| Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... |
OMIM:613424 |
| Cardiomyopathy, Familial Restrictive, 1 |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Left atrial enlar... |
OMIM:115210 |
| Atrial Fibrillation, Familial, 6 |
|
Left ventricular hypertrophy, Atrial fibrillation, Elevated left ventricular end-diastolic diamet... |
OMIM:612201 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:607487 |
| Glycogen Storage Disease 0, Muscle |
|
Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiomyopathy, Left atrial enla... |
OMIM:611556 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... |
OMIM:601493 |
| Cardiomyopathy, Dilated, 1M |
|
Increased left ventricular end-diastolic volume, Endocardial fibroelastosis, Impaired myocardial ... |
OMIM:607482 |
| Cardiomyopathy, Dilated, 2A |
|
Myofiber disarray, Increased left ventricular end-diastolic volume, Cardiomyocyte hypertrophy, Di... |
OMIM:611880 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Myofiber disarray, Left ventricular hypertrophy, Mitral valve prolapse, Atrial fibrillation, Hype... |
OMIM:614676 |
| Cardiomyopathy, Dilated, 1U |
|
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... |
OMIM:613694 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... |
OMIM:612158 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602087 |
| Cardiomyopathy, Familial Hypertrophic, 18 |
|
Atrial fibrillation, Left ventricular hypertrophy, Paroxysmal atrial fibrillation, Hypertrophic c... |
OMIM:613874 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function |
OMIM:604765 |
| Cardiomyopathy, Familial Hypertrophic, 20 |
|
Left ventricular hypertrophy, Atrial fibrillation, Hypertrophic cardiomyopathy |
OMIM:613876 |
| Cardiomyopathy, Dilated, 1Kk |
|
Left ventricular hypertrophy, Mitral regurgitation, Increased left ventricular end-diastolic volu... |
OMIM:615248 |
| Cardiomyopathy, Familial Hypertrophic, 15 |
|
Myofiber disarray, Apical hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Left ventricu... |
OMIM:613255 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Cardiomyopathy, Dilated, 1Dd |
|
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic... |
OMIM:613172 |
| Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... |
OMIM:604169 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602086 |
| Cardiomyopathy, Dilated, 1L |
|
Reduced systolic function, Sudden cardiac death, Increased left ventricular end-diastolic volume,... |
OMIM:606685 |
| Cardiac Lipidosis, Familial |
|
Cardiomyopathy, Congestive heart failure |
OMIM:212080 |
| Cardiomyopathy, Dilated, 1J |
|
Abnormal left ventricular function, Dilated cardiomyopathy, Congestive heart failure, Sudden card... |
OMIM:605362 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Ventricular tachycardia... |
OMIM:613251 |
| Cardiomyopathy, Dilated, 1Ff |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure |
OMIM:613286 |
| Cardiomyopathy, Dilated, 1P |
|
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure |
OMIM:609909 |
| Incessant Infant Ventricular Tachycardia |
|
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... |
ORPHA:45453 |
| Cardiomyopathy, Dilated, 1V |
|
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... |
OMIM:613697 |
| Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Abnormal cardiac septum morphology, Arrhythmia |
ORPHA:1479 |
| Cardiomyopathy, Dilated, 1Hh |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure |
OMIM:613881 |
| Cardiomyopathy, Dilated, 1Ee |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure |
OMIM:613252 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric septal hypertrophy, Subvalvular aortic stenosis, Arrhythmia, Congestive heart failure |
OMIM:192600 |
| Cardiomyopathy, Familial Hypertrophic 27 |
|
Tricuspid regurgitation, Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, M... |
OMIM:618052 |
| Muscular Dystrophy, Becker Type |
|
Muscular dystrophy, Arrhythmia, Calf muscle pseudohypertrophy, Abnormal EKG, Cardiomyopathy |
OMIM:300376 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, End... |
OMIM:608751 |
| Left Ventricular Noncompaction 8 |
|
Mitral regurgitation, Left ventricular noncompaction, Arrhythmia, Dilated cardiomyopathy, Left ve... |
OMIM:615373 |
| Cardiomyopathy, Dilated, 1Z |
|
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure |
OMIM:611879 |
| Cardiomyopathy, Dilated, 1Bb |
|
Left bundle branch block, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... |
OMIM:612877 |
| Sensorineural Deafness With Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function |
ORPHA:217622 |
| Left Ventricular Noncompaction 10 |
|
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... |
OMIM:615396 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Abnormality of the shoulder girdle musculature, Calf muscle hypertrophy, Left ventricular hypertr... |
ORPHA:206546 |
| Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... |
OMIM:600884 |
| Usher Syndrome, Type 1M |
|
Left ventricular hypertrophy |
OMIM:618632 |
| Cardiomyopathy, Dilated, 1Gg |
|
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure |
OMIM:613642 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, Synco... |
OMIM:613838 |
| Atrial Standstill |
|
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... |
ORPHA:1344 |
| Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Tricuspid regurgitation, Left ventricular hypertrophy, Atrial flut... |
OMIM:614022 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber necrosis, Increased endomysial connective tissue, Flexion contracture, Right ventric... |
OMIM:253700 |
| Pulmonary Hypertension, Primary, 5 |
|
Angina pectoris, Right ventricular hypertrophy, Right ventricular failure, Syncope, Pulmonary art... |
OMIM:265400 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... |
OMIM:604400 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Right bund... |
OMIM:614954 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Myocardial fibrosis, Angina pectoris, Left ventricular hypertrophy, Palpitations, Ventricular tac... |
OMIM:613873 |
| Cardiomyopathy, Dilated, 1K |
|
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure |
OMIM:605582 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... |
OMIM:612098 |
| Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... |
OMIM:601494 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Ventricular sep... |
OMIM:108900 |
| Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... |
OMIM:618654 |
| Muscular Dystrophy, Cardiac Type |
|
Muscular dystrophy, Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
| Carvajal Syndrome |
|
Dilated cardiomyopathy, Congestive heart failure |
ORPHA:65282 |
| Loeffler Endocarditis |
|
Myocardial fibrosis, Aortic valve stenosis, Abnormal morphology of the chordae tendinae of the mi... |
ORPHA:75566 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Supraventricular tachycardia, Left bundle branch block, Left ventricular hypertrophy, Sudden card... |
OMIM:608758 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... |
OMIM:600858 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased endomysial connective tissue, Macroglossia, Right ventricular hypertrophy, Calf muscle ... |
ORPHA:353 |
| Cardiomyopathy, Dilated, 2G |
|
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Myofiber disarray, M... |
OMIM:619897 |
| Attrv122I Amyloidosis |
|
Angina pectoris, Cardiac amyloidosis, Atrial arrhythmia, Aortic valve stenosis, Tendon rupture, R... |
ORPHA:85451 |
| Familial Dilated Cardiomyopathy |
|
Left bundle branch block, Left ventricular hypertrophy, Palpitations, Mitral regurgitation, Eleva... |
ORPHA:217607 |
| Myofibrillar Myopathy 10 |
|
Flexion contracture of finger, EMG: myopathic abnormalities, Left ventricular hypertrophy, Prolon... |
OMIM:619040 |
| Coronary Arterial Fistula |
|
Angina pectoris, Abnormal heart morphology, Abnormal left ventricular function, Bacterial endocar... |
ORPHA:2041 |
| Ventricular Tachycardia, Familial |
|
Sudden cardiac death, Cardiomyopathy, Paroxysmal ventricular tachycardia, Right bundle branch block |
OMIM:192605 |
| Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... |
OMIM:601154 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Arrhythmia, Abnormal heart valve morphology, Hypertension, Hypertrophic cardi... |
ORPHA:1345 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Decreased muscle mass, Shoulder girdle muscle weakness, EMG: myopathic abnormalities, Palpitation... |
ORPHA:263297 |
| Sick Sinus Syndrome 2 |
|
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... |
OMIM:163800 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy |
OMIM:616974 |
| Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... |
OMIM:608569 |
| Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Arrhythmia, Syncope, Heart block, Congestive heart failure |
ORPHA:871 |
| Combined Oxidative Phosphorylation Deficiency 23 |
|
Arrhythmia, Cardiomyopathy, Congestive heart failure |
OMIM:616198 |
| Nathalie Syndrome |
|
Skeletal muscle atrophy, Abnormal EKG |
OMIM:255990 |
| Combined Oxidative Phosphorylation Deficiency 17 |
|
Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:615440 |
| Long Qt Syndrome 13 |
|
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... |
OMIM:613485 |
| Danon Disease |
|
Myocardial fibrosis, Wolff-Parkinson-White syndrome, EMG: myopathic abnormalities, Myocardial nec... |
OMIM:300257 |
| Congenital Left Ventricular Aneurysm |
|
Abnormal T-wave, Abnormal ST segment, Arrhythmia, Abnormal left ventricle morphology, Congestive ... |
ORPHA:1055 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Left anterior fascicular block, Permanent atrial fibrillation, Right atrial enlargement, Left bun... |
OMIM:617047 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... |
OMIM:616117 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Angina pectori... |
ORPHA:3092 |
| Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope |
OMIM:614896 |
| Myopathy, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Scapuloperoneal amyotrophy, Calf muscle hypertrophy, EMG: myopathic abnorma... |
OMIM:255160 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Cardiac shunt, Anomalous p... |
ORPHA:860 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Right atrial enlargement, Left bundle branch block, Congestive heart failure, Myofiber disarray, ... |
OMIM:115197 |
| Cardiomyopathy, Dilated, 1G |
|
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... |
OMIM:604145 |
| Sudden Cardiac Failure, Infantile |
|
Myocardial fibrosis, Sudden cardiac death, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy,... |
OMIM:617222 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... |
OMIM:611528 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... |
OMIM:613243 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Left ventricular hypertrophy,... |
OMIM:540000 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Thigh hypertrophy, Left ventricular hypertrophy, Calf muscle hypertrophy, Increased variability i... |
ORPHA:86812 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... |
OMIM:618920 |
| Endocardial Fibroelastosis |
|
Restrictive cardiomyopathy, Endocardial fibroelastosis, Congestive heart failure |
ORPHA:2022 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Muscular ... |
ORPHA:300751 |
| Cardiomyopathy, Dilated, 2B |
|
Atrial fibrillation, Dilated cardiomyopathy, Congestive heart failure |
OMIM:614672 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Scapular winging, Dilated cardi... |
ORPHA:206559 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Myopathy, Congestive heart failure |
OMIM:618234 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy, Myopathy |
OMIM:617713 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Left ventricular hypertrophy, Ventricular hypertrophy, Congestive heart failure, Br... |
OMIM:619048 |
| Cardiomyopathy, Dilated, 1Nn |
|
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... |
OMIM:615916 |
| Classic Multiminicore Myopathy |
|
Multiple joint contractures, Muscle fiber atrophy, Right ventricular hypertrophy, Weakness of fac... |
ORPHA:324604 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Supraventricular arrhythmia, Supraventricular tachycardia, Premature atrial contractions, Atrial ... |
ORPHA:99105 |
| Paget Disease Of Bone 6 |
|
Left ventricular hypertrophy |
OMIM:616833 |
| Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... |
OMIM:115200 |
| Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Abnormal left ventricular function, Intrinsic hand muscle atrophy, Limb-girdle muscle weakness, F... |
ORPHA:98912 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Congestive heart failure |
OMIM:300886 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... |
OMIM:609040 |
| Congenital Gerbode Defect |
|
Bacterial endocarditis, Right atrial enlargement, Elevated right atrial pressure, Tricuspid regur... |
ORPHA:99095 |
| Congenital Aortic Valve Stenosis |
|
Angina pectoris, Aortic valve calcification, Abnormal left ventricular function, Aortic valve ste... |
ORPHA:3093 |
| Long Qt Syndrome 16 |
|
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Perimembranous ve... |
OMIM:618782 |
| Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular fibrillation... |
OMIM:619747 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure |
OMIM:605676 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Bradycardia |
OMIM:614654 |
| Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... |
ORPHA:1329 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Pulmonic stenosis, Abnormal EKG, Secundum atrial septal defect |
OMIM:178650 |
| Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... |
ORPHA:439 |
| Desminopathy |
|
Supraventricular arrhythmia, Concentric hypertrophic cardiomyopathy, Weakness of facial musculatu... |
ORPHA:98909 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... |
OMIM:610193 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Imperforate tricuspid valve, Abnormal cardiac septum morphology, Atrial septal defect, Sudden car... |
ORPHA:1880 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Right ventricular hypertrophy, Left ventricular hypertrophy, Seve... |
ORPHA:444013 |
| Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... |
ORPHA:45452 |
| Cardiomyopathy, Familial Hypertrophic, 2 |
|
Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, Atrial fibrillation, ... |
OMIM:115195 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Premature ventricular contraction, Right ventricular cardiomyopathy, Sudden cardiac death, Ventri... |
OMIM:607450 |
| Brugada Syndrome |
|
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... |
ORPHA:130 |
| Familial Atrial Myxoma |
|
Bacterial endocarditis, Tricuspid regurgitation, Heart murmur, Pulmonic valve myxoma, Cardiomegal... |
ORPHA:615 |
| Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal heart valve morphology, Congestive heart failure, Heart murmur |
ORPHA:3400 |
| Naxos Disease |
|
Abnormal heart morphology, Prolonged QRS complex, Premature ventricular contraction, Right ventri... |
OMIM:601214 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
| Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart ... |
OMIM:602390 |
| Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Right ventricular hypertrophy, Palpitations, Elevated pulmonary artery p... |
ORPHA:275766 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Macroglossia, Flexion contracture, Skeletal muscle hypertrophy, Left ventricular hypertrophy, Mus... |
OMIM:613156 |
| Familial Cutaneous Collagenoma |
|
Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure |
ORPHA:53296 |
| Pituitary Adenoma 1, Multiple Types |
|
Left ventricular hypertrophy, Cardiomyopathy, Hypertension |
OMIM:102200 |
| Maternally-Inherited Diabetes And Deafness |
|
Hypertension, Hypertrophic cardiomyopathy, Arrhythmia, Congestive heart failure |
ORPHA:225 |
| Atrial Standstill 1 |
|
Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Endocardial fibroela... |
OMIM:108770 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Left ventricular hypertrophy, EMG: myopathic abnormalities, Heart murmur, Ragged-red muscle fiber... |
OMIM:615418 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Left bundle branch block, Ventricular tachycardia, Right ventricular dilatation, First degree atr... |
OMIM:615616 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Paroxysmal atrial tachycardia, Ventricular septal defect, Cardiac arrest, C... |
ORPHA:49827 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Hypertension, Flexion contracture |
OMIM:616733 |
| Sandhoff Disease |
|
Hepatomegaly, Splenomegaly, Congestive heart failure |
ORPHA:796 |
| Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular hypertrophy, Right ventricular failure, Hyperte... |
OMIM:178600 |
| Naxos Disease |
|
Sudden cardiac death, Paroxysmal ventricular tachycardia, Arrhythmia, Cardiomyopathy, Congestive ... |
ORPHA:34217 |
| Familial Dyskinesia And Facial Myokymia |
|
Limb hypertonia, Dilated cardiomyopathy, Facial myokymia, Congestive heart failure |
ORPHA:324588 |
| Peripartum Cardiomyopathy |
|
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Hypertension, Left bundle ... |
ORPHA:563 |
| Cardiac Valvular Dysplasia, X-Linked |
|
Bicuspid aortic valve, Tricuspid regurgitation, Mitral regurgitation, Short chordae tendineae of ... |
OMIM:314400 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Muscular edema, Right ventricular hypertrophy, Proximal muscle weakness in lower limbs, Calf musc... |
ORPHA:268 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Atrial arrhyt... |
OMIM:310300 |
| Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Abnormal cardiac septum morphology, Increased endomysial connective tissue, Scapular winging, Inc... |
ORPHA:437572 |
| Progressive Familial Heart Block, Type Ia |
|
Left anterior fascicular block, Left posterior fascicular block, Sudden cardiac death, Syncope, R... |
OMIM:113900 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Macroglossia, Hypotension, Shortened PR interval, Biventricular hypertrophy, Bradycardia, Myopath... |
OMIM:261740 |
| Bronchopulmonary Dysplasia |
|
Right ventricular failure, Right ventricular hypertrophy |
ORPHA:70589 |
| Butyrylcholinesterase Deficiency |
|
Myocardial infarction, Congestive heart failure |
ORPHA:132 |
| Hemochromatosis, Type 2B |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Congestive heart failure |
OMIM:613313 |
| Agenesis Of The Corpus Callosum And Congenital Lymphedema |
|
Hypertension, Pulmonary arterial hypertension, Right ventricular hypertrophy |
OMIM:613623 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Arrhythmia, Cardiomyopathy, Atrioventricular block |
ORPHA:85447 |
| Cirrhotic Cardiomyopathy |
|
Right atrial enlargement, Hepatomegaly, Third heart sound, Left ventricular diastolic dysfunction... |
ORPHA:57777 |
| Muscular Dystrophy, Duchenne Type |
|
Hamstring contractures, Flexion contracture, Calf muscle hypertrophy, Muscular dystrophy, Arrhyth... |
OMIM:310200 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Left ventricular hypertrophy, Ventricular septal defect, Biventricular hypertrophy, Patent forame... |
OMIM:615474 |
| Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Right ventricular hypertrophy |
OMIM:614261 |
| Brugada Syndrome 1 |
|
Sudden cardiac death, Syncope, Supraventricular tachycardia with an accessory connection mediated... |
OMIM:601144 |
| 3-Methylglutaconic Aciduria, Type V |
|
Sudden cardiac death, Noncompaction cardiomyopathy, Dilated cardiomyopathy, Prolonged QT interval... |
OMIM:610198 |
| Tropical Endomyocardial Fibrosis |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Reduce... |
ORPHA:75565 |
| Congenital Fibrinogen Deficiency |
|
Left ventricular hypertrophy, Tachycardia, Internal hemorrhage, Right ventricular hypertrophy |
ORPHA:335 |
| Long Qt Syndrome 2 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... |
OMIM:613688 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Right atrial enlargement, Atrioventricular block, Hepatomegaly, Complete heart block with narrow ... |
ORPHA:1677 |
| Tangier Disease |
|
Facial diplegia, Hepatomegaly, Splenomegaly, Left ventricular hypertrophy, Distal amyotrophy, Myo... |
OMIM:205400 |
| Ebstein Anomaly |
|
Atrial septal defect, Atrial standstill, Sudden cardiac death, Ventricular preexcitation, Right b... |
OMIM:224700 |
| Glycogen Storage Disease Xv |
|
Ventricular arrhythmia, Right bundle branch block |
OMIM:613507 |
| Autosomal Recessive Centronuclear Myopathy |
|
Facial diplegia, Hip contracture, Left ventricular hypertrophy, Facial palsy, Scapular winging, T... |
ORPHA:169186 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Reduced muscle carnitine level, Endocardial fibroelastosis, Myopathy, Hypertrophic ... |
OMIM:212140 |
| Adams-Oliver Syndrome 5 |
|
Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosis, Splenomegaly, Patent ... |
OMIM:616028 |
| Long Qt Syndrome 9 |
|
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... |
OMIM:611818 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Hypertrophic cardiomyopathy, Myopathy, Low-output congestive heart failure |
ORPHA:91130 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Mobitz I atrioventricular block, Heart murmur, Sick sinus syndrome, Ventricular septal defect, Ab... |
ORPHA:216694 |
| Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Tricuspid regurgitation, Mitral regurgitation, Sudden cardiac death, Left ... |
OMIM:613426 |
| Atrial Septal Defect, Ostium Primum Type |
|
Systolic heart murmur, Right bundle branch block, Atrioventricular block, Palpitations, Syncope, ... |
ORPHA:99106 |
| Refsum Disease, Classic |
|
Arrhythmia, Limb muscle weakness, Cardiomyopathy, Cardiomegaly, Congestive heart failure |
OMIM:266500 |
| Cardiomyopathy, Dilated, 1Y |
|
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Ebstein anomaly of the tricu... |
OMIM:611878 |
| Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Left ventricular hypertrophy |
OMIM:614458 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval |
OMIM:220400 |
| Immune-Mediated Necrotizing Myopathy |
|
Muscle fiber necrosis, Raynaud phenomenon, Proximal muscle weakness in lower limbs, EMG: myopathi... |
ORPHA:206569 |
| Tako-Tsubo Cardiomyopathy |
|
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Prolonged QT interva... |
ORPHA:66529 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Ragged-red muscle fibers, Congestive heart failure |
OMIM:616794 |
| Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Left ventricular n... |
OMIM:616249 |
| Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... |
OMIM:604559 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Muscular dystrophy, Right bundle branch block, Skeletal muscle hypertrophy |
OMIM:613158 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Supraventricular arrhythmia, Abnormal mitral valve morphology, Systolic heart murmur, Transient i... |
ORPHA:99103 |
| Noonan Syndrome 8 |
|
Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Mitral regurgitation, Vent... |
OMIM:615355 |
| Sick Sinus Syndrome 4 |
|
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... |
OMIM:619464 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Tricuspid regurgitation, Left ventricular noncompaction, Left ventricular hypertrop... |
OMIM:619167 |
| Long Qt Syndrome 10 |
|
Sudden cardiac death, T-wave alternans, Atrial fibrillation, Prolonged QT interval, Atrioventricu... |
OMIM:611819 |
| Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Congestive heart failure |
OMIM:301021 |
| Childhood-Onset Spasticity With Hyperglycinemia |
|
Left ventricular hypertrophy |
ORPHA:401866 |
| Wild Type Attr Amyloidosis |
|
Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Myocardial infarc... |
ORPHA:330001 |
| Atrioventricular Septal Defect 3 |
|
Inlet ventricular septal defect, Primum atrial septal defect, Atrioventricular canal defect, Mids... |
OMIM:600309 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... |
OMIM:604772 |
| Congenital Pulmonary Lymphangiectasia |
|
Chylopericardium, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Pulmonic stenosis, Pulmona... |
ORPHA:2414 |
| Cardiac Diverticulum |
|
Angina pectoris, Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Abnormal heart... |
ORPHA:1686 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Splenomegaly, Cardiomegaly, Congestive heart failure |
OMIM:269920 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Abnormal left ventricular function, Left ventricular hypertrophy, Skeletal myopathy, Distal amyot... |
ORPHA:3208 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Hyperte... |
ORPHA:1457 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Flexion contracture, Arrhythmia, Skeletal muscle atrophy, Myopathy, Congestive heart failure |
ORPHA:157973 |
| Aortic Arch Interruption |
|
Blood pressure substantially higher in arms than legs, Systolic heart murmur, Heart murmur, Ventr... |
ORPHA:2299 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Ventricular septal defect, Hepatomegaly, Arthrogryposis multiplex congenita, Right ventricular hy... |
OMIM:613404 |
| Brugada Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Right bundle branch block, Prolonged PR ... |
OMIM:611777 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Cont... |
ORPHA:324410 |
| Atrial Fibrillation, Familial, 9 |
|
Permanent atrial fibrillation, Palpitations, Prolonged QTc interval, Syncope, Paroxysmal atrial f... |
OMIM:613980 |
| Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... |
OMIM:194200 |
| Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Generalized amyotrophy, Abnormal EKG, Lower limb muscle weakness, Lower limb hypertonia |
ORPHA:1177 |
| Familial Hyperaldosteronism Type Iii |
|
Left ventricular hypertrophy, Intracranial hemorrhage, Prolonged QT interval, Hypertension, Epist... |
ORPHA:251274 |
| Laubry-Pezzi Syndrome |
|
Bicuspid aortic valve, Mildly reduced left ventricular ejection fraction, Right ventricular outle... |
ORPHA:99094 |
| Timothy Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Patent foramen ovale, Prolonged QT interval, Card... |
OMIM:601005 |
| Meckel Syndrome, Type 7 |
|
Atrial septal defect, Aortic valve stenosis, Right ventricular hypertrophy, Hepatosplenomegaly, S... |
OMIM:267010 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Abnormal pulmonary valve morphology, Hepatomegaly, Flexion contracture, Camptodactyly of finger, ... |
ORPHA:1194 |
| Dk1-Cdg |
|
Arrhythmia, Cardiomyocyte hypertrophy, Interstitial cardiac fibrosis, Dilated cardiomyopathy, Con... |
ORPHA:91131 |
| X-Linked Intellectual Disability, Hedera Type |
|
Left ventricular hypertrophy, Hypomimic face |
ORPHA:93952 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul... |
OMIM:612949 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Pulmonary arterial hypertension, Right ventricular hypertrophy |
ORPHA:217563 |
| Brugada Syndrome 9 |
|
Presyncope, Palpitations, ST segment elevation, Prolonged QT interval |
OMIM:616399 |
| Long Qt Syndrome 11 |
|
Syncope, Prolonged QTc interval |
OMIM:611820 |
| Hydrops Fetalis, Nonimmune |
|
Congestive heart failure |
OMIM:236750 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Splenomegaly, Arrhythmia, Telangiectasia, Cardiomyopathy, Cardiomegaly, Congestive ... |
OMIM:235200 |
| Long Qt Syndrome 6 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... |
OMIM:613693 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Ragged-red muscle fibers, Dilated cardiomyopathy, Hypertension, Hypertrophic cardiomyopathy, Cong... |
ORPHA:1349 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Limb hypertonia, Dilated cardiomyopathy, Facial myokymia, Congestive heart failure |
OMIM:606703 |
| Long Qt Syndrome 14 |
|
Prolonged QTc interval, Prolonged QT interval, T-wave alternans, Ventricular fibrillation, Cardia... |
OMIM:616247 |
| Combined Oxidative Phosphorylation Deficiency 22 |
|
Pulmonary arterial hypertension, Congestive heart failure |
OMIM:616045 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Supraventricular arrhythmia, Bundle branch block, Unroofed coronary sinus, Anomalous pulmonary ve... |
ORPHA:99104 |
| Romano-Ward Syndrome |
|
Torsade de pointes, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Prolo... |
ORPHA:101016 |
| Atrial Fibrillation, Familial, 11 |
|
Atrial fibrillation, Prolonged QRS complex, Prolonged P wave |
OMIM:614049 |
| Atrial Fibrillation, Familial, 3 |
|
Permanent atrial fibrillation, Sudden cardiac death, Prolonged QTc interval, Syncope, Atrial fibr... |
OMIM:607554 |
| Bundle Branch Block, Familial Isolated Complete Right |
|
Right bundle branch block |
OMIM:113950 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
ST segment depression, Cerebral hemorrhage, Left ventricular hypertrophy, Cerebral ischemia, Sync... |
ORPHA:90065 |
| Morbid Obesity And Spermatogenic Failure |
|
Myocardial infarction, Hypertension, Congestive heart failure |
OMIM:615703 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Atrial septal defect, Right ventricular hypertrophy, Ventricular septal defect, Patent foramen ov... |
OMIM:208085 |
| Atrial Standstill 2 |
|
Atrial arrhythmia, Atrial standstill, Palpitations, Absent P wave, Atrial cardiomyopathy, Dilatat... |
OMIM:615745 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Muscular dystrophy |
OMIM:613153 |
| Mulibrey Nanism |
|
Myocardial fibrosis, Congestive heart failure, Hepatomegaly, Cardiomegaly, Pericardial constriction |
OMIM:253250 |
| Collagenoma, Familial Cutaneous |
|
Tricuspid regurgitation, Right ventricular cardiomyopathy, Vasculitis, Atrial fibrillation, Cardi... |
OMIM:115250 |
| Long Qt Syndrome 1 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... |
OMIM:192500 |
| Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Hepatomegaly, Splenomegaly, Congestive heart failure |
ORPHA:163596 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... |
OMIM:614021 |
| Atransferrinemia |
|
Congestive heart failure |
OMIM:209300 |
| Polymyositis |
|
Abnormal mitral valve morphology, Abnormal muscle fiber morphology, Hepatomegaly, Arrhythmia, Vas... |
ORPHA:732 |
| Brugada Syndrome 3 |
|
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... |
OMIM:611875 |
| Non-Involuting Congenital Hemangioma |
|
Telangiectasia of the skin, Congestive heart failure |
ORPHA:141179 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Abnormal heart morphology, Hypertrophic cardiomyopathy, Congestive heart failure |
ORPHA:70472 |
| Cardiogenic Shock |
|
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... |
ORPHA:97292 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Calf muscle h... |
ORPHA:254361 |
| Absence Of The Pulmonary Artery |
|
Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect, Systolic hea... |
ORPHA:980 |
| Weiss-Kruszka Syndrome |
|
Ventricular septal defect, Left ventricular hypertrophy, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
| American Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Arrhythmia, Myocarditis, Achalasia, Cardiomyopathy, Congestive heart ... |
ORPHA:3386 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Tricuspid reg... |
OMIM:620066 |
| Wild Type Abeta2M Amyloidosis |
|
Abnormality of the thenar eminence, Macroglossia, Abnormal tendon morphology, Arrhythmia, Gastroi... |
ORPHA:85446 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Macroglossia, Left ventricular outflow tract obstruction, Left ventricular hypertro... |
ORPHA:308552 |
| Fabry Disease |
|
Angina pectoris, Left ventricular hypertrophy, Arrhythmia, Myocardial infarction, Ventricular sep... |
OMIM:301500 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion, Cardiomegaly |
OMIM:239850 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... |
OMIM:615441 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Aortic valve stenosis, Left ventricular outflow tract obstruction, Myxomat... |
OMIM:614980 |
| Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Facial hypotonia, Atrial septal defect, Decreased muscle mass, Congestive heart failure |
ORPHA:500533 |
| Pituitary Gigantism |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
ORPHA:99725 |
| Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Hypotension, Heart murmur, Pulmonary arterial hypert... |
ORPHA:95459 |
| Brugada Syndrome 5 |
|
Bundle branch block, ST segment elevation, Ventricular fibrillation |
OMIM:612838 |
| Aapoaiv Amyloidosis |
|
Sinus bradycardia, Left bundle branch block, Cardiac amyloidosis, Left ventricular outflow tract ... |
ORPHA:439232 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Klippel-Trénaunay Syndrome |
|
Atrial septal defect, Hepatomegaly, Pulmonary embolism, Internal hemorrhage, Gastrointestinal hem... |
ORPHA:90308 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Torsade de pointes, Premature ventricular contraction, Sudden cardiac death, Syncope, Prolonged Q... |
OMIM:612347 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Muscle fiber atrophy, Secundum atrial septal defect, Flexion contracture, Diaphragmatic eventrati... |
OMIM:616866 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hepatomegaly, Ventricular tachycardia, Cardiomegaly |
OMIM:600649 |
| Rapidly Involuting Congenital Hemangioma |
|
Telangiectasia of the skin, Congestive heart failure |
ORPHA:141184 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Myocardial infarction, Hypertension, Congestive heart failure |
OMIM:614473 |
| Friedreich Ataxia |
|
Hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure |
OMIM:229300 |
| Stuve-Wiedemann Syndrome 2 |
|
Pulmonary arterial hypertension, Camptodactyly, Congestive heart failure |
OMIM:619751 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Left ventricular hypertrophy, Camptodactyly |
OMIM:611209 |
| Synaptic Congenital Myasthenic Syndromes |
|
Hand muscle weakness, Right ventricular hypertrophy, Type 2 muscle fiber atrophy, Scapular wingin... |
ORPHA:98915 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Fa... |
ORPHA:52430 |
| Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... |
OMIM:608567 |
| Mucopolysaccharidosis, Type X |
|
Left ventricular hypertrophy, Thickened aortic valve cusp, Aortic valve stenosis, Aortic regurgit... |
OMIM:619698 |
| Brugada Syndrome 8 |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block |
OMIM:613123 |
| Cednik Syndrome |
|
Congestive heart failure |
ORPHA:66631 |
| Brugada Syndrome 7 |
|
Permanent atrial fibrillation, Prolonged P wave, ST segment elevation, Atrial flutter, Paroxysmal... |
OMIM:613120 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Left ventricular hypertrophy, Mitral regurgitation, Arrhythmia, Lower li... |
ORPHA:746 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Bicuspid aortic valve, Pulmonic stenosis, Mitral regurgitation, Sick sinus syndrome, Atrial flutt... |
OMIM:616201 |
| Al Amyloidosis |
|
Abnormal cardiac ventricle morphology, Abnormal P wave, Jaw claudication, Hepatomegaly, Macroglos... |
ORPHA:85443 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Abnormal muscle glycogen content, Hepatomegaly, Flexion contracture, Hepatosplenomegaly, Dilated ... |
ORPHA:367 |
| Barth Syndrome |
|
Tricuspid regurgitation, Arrhythmia, Increased left ventricular end-diastolic volume, Endocardial... |
OMIM:302060 |
| Dextrocardia |
|
Situs inversus totalis, Dextrocardia, T-wave inversion, Abnormal EKG, Abnormal heart morphology |
ORPHA:1666 |
| Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Bacterial endocarditis, Heart block, Premature ventricular contraction |
ORPHA:1964 |
| Scimitar Syndrome |
|
Tricuspid atresia, Abnormal heart morphology, Double outlet right ventricle, Anomalous pulmonary ... |
ORPHA:185 |
| Apparent Mineralocorticoid Excess |
|
Left ventricular hypertrophy, Hypertension |
ORPHA:320 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Dilated cardiomyopathy, Hypertension, Cardiomegaly, Congestive heart failure |
OMIM:208000 |
| Babesiosis |
|
Myocardial infarction, Hepatomegaly, Splenomegaly, Congestive heart failure |
ORPHA:108 |
| Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Patent foramen ovale, C... |
OMIM:618652 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Tachycardia, Splenomegaly, Congestive heart failure |
ORPHA:90037 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Hepatomegaly, Tachycardia, Junction... |
ORPHA:137675 |
| Pseudoxanthoma Elasticum |
|
Angina pectoris, Intermittent claudication, Mitral stenosis, Restrictive cardiomyopathy, Weak pul... |
OMIM:264800 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval |
OMIM:600919 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Limb muscle weakness, Cardiomyopathy, Cardiomegaly, Congestive heart failure |
OMIM:619259 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Right bundle branch block |
OMIM:616479 |
| Primary Lipodystrophy |
|
Angina pectoris, Splenomegaly, Skeletal muscle hypertrophy, Hypertension, Cardiomyopathy, Myopath... |
ORPHA:90970 |
| Andersen-Tawil Syndrome |
|
Torsade de pointes, Abnormal T-wave, Premature ventricular contraction, Polymorphic ventricular t... |
ORPHA:37553 |
| Craniofaciofrontodigital Syndrome |
|
Persistent fetal circulation, Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect,... |
ORPHA:363705 |
| Autoimmune Hemolytic Anemia |
|
Arrhythmia, Splenomegaly, Congestive heart failure |
ORPHA:98375 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Arrhythmia, Hepatomegaly, Cardiomegaly |
OMIM:255120 |
| Familial Short Qt Syndrome |
|
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... |
ORPHA:51083 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Atrial septal defect, Tendon rupture, Tricuspid regurgitation, Left ventricular hypertrophy, Mitr... |
ORPHA:230851 |
| Truncus Arteriosus |
|
Abnormal heart valve physiology, Atrial septal defect, Right ventricular hypertrophy, Pulmonic st... |
ORPHA:3384 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Hepatomegaly, Decreased muscle mass, Splenomegaly, Arrhythmia, Portal hypertension, Cardiomegaly,... |
ORPHA:465508 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Pulmonary arterial hypertension, Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Splenomegaly, Skeletal muscle hypertrophy, Abnormality of skeletal muscle fiber siz... |
ORPHA:2348 |
| Noonan Syndrome 10 |
|
Mitral stenosis, Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Mitral re... |
OMIM:616564 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Tricuspid regurgitation, Hypertrophic cardiomyopathy, Ventricular hypertrophy, Pulmonary arterial... |
OMIM:619051 |
| Short Qt Syndrome 1 |
|
Cardiac arrest, Palpitations, Sudden cardiac death, Syncope, Paroxysmal atrial fibrillation, Shor... |
OMIM:609620 |
| Maternal Uniparental Disomy Of Chromosome X |
|
Camptodactyly of finger, Flexion contracture, Congestive heart failure |
ORPHA:261519 |
| Congenital Sialidosis Type 2 |
|
Hepatomegaly, Hepatosplenomegaly, Abnormal EKG, Telangiectasia, Abnormal heart morphology |
ORPHA:93400 |
| Long Qt Syndrome 12 |
|
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval |
OMIM:612955 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Splenomegaly, Skeletal muscle hypertrophy, Calf muscle pseudohypertrophy, Abnormali... |
ORPHA:79083 |
| Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Splenomegaly, Dilated cardiomyopathy, Abnormal heart valve morphology, Hypertrophic... |
OMIM:230500 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure |
OMIM:611126 |
| Long Qt Syndrome 5 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... |
OMIM:613695 |
| Brugada Syndrome 6 |
|
Cardiac arrest, Ventricular fibrillation, ST segment elevation |
OMIM:613119 |
| Neonatal Lupus Erythematosus |
|
Hepatomegaly, Splenomegaly, Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Dil... |
ORPHA:398124 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Triglyceride Deposit Cardiomyovasculopathy |
|
Angina pectoris, Hepatomegaly, Abnormality of the shoulder girdle musculature, Abnormality of the... |
ORPHA:565612 |
| Noonan Syndrome With Multiple Lentigines |
|
Bundle branch block, Abnormal mitral valve morphology, Abnormal pulmonary valve morphology, Atrio... |
ORPHA:500 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Increased muscle glycogen content, Hepatomegaly, Right axis devia... |
OMIM:232300 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Arrhythmia, Rhabdomyolysis, Dilated cardiomyopathy, Myopathy, Congestive heart failure |
OMIM:609015 |
| Friedreich Ataxia And Congenital Glaucoma |
|
Concentric hypertrophic cardiomyopathy, Muscular subvalvular aortic stenosis, Abnormal EKG, Hyper... |
OMIM:229310 |
| Friedreich Ataxia 2 |
|
Muscular subvalvular aortic stenosis, Abnormal EKG, Congestive heart failure, Concentric hypertro... |
OMIM:601992 |
| Long Qt Syndrome 3 |
|
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... |
OMIM:603830 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Cerebellar hemorrhage, EMG: myopathic abnormalities, Sudden cardiac death, Dilated cardiomyopathy... |
ORPHA:99901 |
| Long Qt Syndrome 8 |
|
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... |
OMIM:618447 |
| Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined |
|
Intrinsic hand muscle atrophy, Concentric hypertrophic cardiomyopathy, Foot dorsiflexor weakness,... |
OMIM:302900 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Abnormal left ventricular function, Right atrial enlargement, Abnormal T-wave, Rig... |
ORPHA:70591 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Left ventricular hypertrophy, Congestive heart failure |
OMIM:619355 |
| Aneurysm Of Sinus Of Valsalva |
|
Bacterial endocarditis, Aortic regurgitation, Congestive heart failure, Heart murmur |
ORPHA:1054 |
| Non-Functioning Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:94080 |
| Carney Complex, Type 1 |
|
Cardiac myxoma, Congestive heart failure |
OMIM:160980 |
| Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Increased blood pressure, Portal ... |
OMIM:619487 |
| Atrial Fibrillation, Familial, 14 |
|
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation |
OMIM:615378 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Arrhythmia, Distal arthrogryposis, Cardiomegaly, Skeletal muscle atrophy, Myopathy |
ORPHA:42 |
| Mucopolysaccharidosis, Type Iiib |
|
Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:252920 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Splenomegaly, Skeletal muscle atrophy, Cardiomyopathy, Cardiomegaly |
OMIM:256550 |
| Jervell And Lange-Nielsen Syndrome |
|
Torsade de pointes, Arrhythmia, Prolonged QTc interval, Syncope, Ventricular fibrillation |
ORPHA:90647 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Arrhythmia, Increased intramyocellular lipid droplets, Rhabdomyolysis, Scapular win... |
ORPHA:26791 |
| Mucolipidosis Type Ii |
|
Diastasis recti, Abnormal mitral valve morphology, Hip contracture, Telangiectases of the cheeks,... |
ORPHA:576 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Atrial septal defect, Camptodactyly, Right bundle branch block, Hypertrophic cardiomyopathy, Cong... |
OMIM:617403 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Double outlet right ventricle, Mitral regurgitation, Pulmonary insufficiency, Heart murmur, Aorti... |
ORPHA:2326 |
| Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... |
OMIM:609621 |
| Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... |
OMIM:612240 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Congest... |
OMIM:171420 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Right ventricular hypertroph... |
OMIM:300967 |
| Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Macroglossia, Skeletal muscle hypertrophy, Hypertrophic cardiomyopathy, Congestive ... |
ORPHA:528 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Tachycardia |
OMIM:618321 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Abnormal pericardium morphology, Recurrent intrapulmonary hemorrhage, Endocarditis, Myositis, Myo... |
ORPHA:183 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Hypoplastic left heart, Left-to-right shunt, Left ventricular outflow tract... |
ORPHA:99050 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Diastasis recti, Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Hypoplasti... |
OMIM:265380 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Tachycardia, Splenomegaly, Congestive heart failure |
ORPHA:90033 |
| African Iron Overload |
|
Abnormal heart morphology, Hepatomegaly, Congestive heart failure |
ORPHA:139507 |
| Fabry Disease |
|
Angina pectoris, Telangiectasia of the skin, Bundle branch block, Mucosal telangiectasiae, Achala... |
ORPHA:324 |
| Malignant Hyperthermia Of Anesthesia |
|
Supraventricular tachycardia, High-output congestive heart failure, Premature ventricular contrac... |
ORPHA:423 |
| Pulmonary Hypertension, Primary, 4 |
|
Elevated pulmonary artery pressure, Pulmonary arterial hypertension with lack of acute response t... |
OMIM:615344 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Hypoglycosylation of alpha-dystroglycan, Flexion contracture, Muscular dystrophy, Congenital musc... |
OMIM:615351 |
| Capillary Malformation-Arteriovenous Malformation |
|
Abnormal heart morphology, High-output congestive heart failure, Abnormality of the musculature o... |
ORPHA:137667 |
| Vici Syndrome |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Cardiomyopathy, Myopathy, Congestive heart ... |
OMIM:242840 |
| Familial Aortic Dissection |
|
Abnormal left ventricular function, Aortic regurgitation, Cardiomegaly |
ORPHA:229 |
| Mogs-Cdg |
|
Hepatomegaly, Atrial septal defect, Left ventricular hypertrophy, Hepatosplenomegaly, Cardiomegaly |
ORPHA:79330 |
| Myotonic Dystrophy 2 |
|
Premature ventricular contraction, Type 2 muscle fiber atrophy, Palpitations, Tachycardia, Weakne... |
OMIM:602668 |
| Juvenile Dermatomyositis |
|
Angina pectoris, Telangiectasia of the skin, Bundle branch block, Mucosal telangiectasiae, Arrhyt... |
ORPHA:93672 |
| Graves Disease, Susceptibility To, 1 |
|
Congestive heart failure |
OMIM:275000 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Facial diplegia, Left ventricular hypertrophy, Quadriceps muscle weakness, EMG: myopathic abnorma... |
ORPHA:254892 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Sudden cardiac death, Exercise-induced rhabdomyolysis, Hypertrophic cardiomyopathy,... |
OMIM:201475 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Congestive heart failure |
ORPHA:3077 |
| Hutchinson-Gilford Progeria Syndrome |
|
Angina pectoris, Myocardial infarction, Congestive heart failure |
OMIM:176670 |
| Hyperkalemic Periodic Paralysis |
|
Flexion contracture, Skeletal muscle hypertrophy, Arrhythmia, Skeletal muscle atrophy, Myopathy, ... |
ORPHA:682 |
| Eisenmenger Syndrome |
|
Angina pectoris, Supraventricular arrhythmia, Hepatomegaly, Atrioventricular canal defect, Heart ... |
ORPHA:97214 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Abnormal pericardium morphology, Constrictive pericarditis, Congestive heart failure |
ORPHA:67 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Atrial septal defect, Hepatomegaly, Tachycardia, Arrhythmia, Exercise-induced rhabdomyolysis, Ven... |
ORPHA:26793 |
| Pseudo-Torch Syndrome 3 |
|
Hypertension, Cerebral hemorrhage, Cardiomegaly |
OMIM:618886 |
| Scorpion Envenomation |
|
Bundle branch block, Premature ventricular contraction, ST segment depression, Tachycardia, Arrhy... |
ORPHA:466677 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Supraventricular arrhythmia, Hepatomegaly, Splenomegaly, Skeletal muscle hypertrophy, Ventricular... |
ORPHA:280365 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Hepatosplenomegaly, Heart murmur, Diffuse alveolar hemorrhage, Cardiomegaly |
ORPHA:99931 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Glycogen accumulation in muscle fiber lysosomes, Hepatomegaly, Flexion contracture, Macroglossia,... |
ORPHA:365 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
| Microscopic Polyangiitis |
|
Arrhythmia, Vasculitis, Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Congestive heart fa... |
ORPHA:727 |
| Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Flexion contracture, Splenomegaly, Macroglossia, Hepatosplenomegaly, Abnormal heart... |
OMIM:309900 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Pulmonic stenosis, Left ventricular hypertrophy, Small thenar eminence, Camptodactyly |
OMIM:619148 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Hepatomegaly, Splenomegaly, Congestive heart failure |
ORPHA:75564 |
| Tangier Disease |
|
Facial diplegia, Left ventricular hypertrophy, Hepatosplenomegaly, Coronary artery stenosis |
ORPHA:31150 |
| Simple Cryoglobulinemia |
|
Abnormal heart morphology, Raynaud phenomenon, Vasculitis, Myocardial infarction, Gastrointestina... |
ORPHA:91139 |
| Marbach-Rustad Progeroid Syndrome |
|
Pulmonary insufficiency, Ventricular septal hypertrophy, Right bundle branch block |
OMIM:619322 |
| Neutral Lipid Storage Myopathy |
|
Hand muscle weakness, Hepatomegaly, Rimmed vacuoles, Pelvic girdle muscle weakness, Foot dorsifle... |
ORPHA:98908 |
| Leigh Syndrome With Cardiomyopathy |
|
Pulmonic stenosis, Mitral regurgitation, Dilated cardiomyopathy, Cardiac conduction abnormality, ... |
ORPHA:70474 |
| Gm1 Gangliosidosis |
|
Macroglossia, Splenomegaly, Hepatosplenomegaly, Camptodactyly of finger, Aplasia/Hypoplasia of th... |
ORPHA:354 |
| Pediatric-Onset Graves Disease |
|
Hepatomegaly, Sinus tachycardia, Splenomegaly, Palpitations, Hypertension, Atrial fibrillation, C... |
ORPHA:525731 |
| Spinal Arteriovenous Metameric Syndrome |
|
Congestive heart failure |
ORPHA:53721 |
| Atrophoderma Vermiculata |
|
Heart block |
ORPHA:79100 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:613320 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Atrial septal defect, Congenital diaphragmatic hernia, Left ventricular hy... |
OMIM:245600 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Atrial septal defect, Hepatomegaly, Flexion contracture, Splenomegaly, Macroglossia, Enlarged kid... |
OMIM:617303 |
| Colchicine Poisoning |
|
Hypovolemia, Arrhythmia, Cardiogenic shock, Hypotension, Myocarditis, Congestive heart failure |
ORPHA:31824 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Atrial septal defect, Tricuspid regurgitation, Right ventricular hypertrophy, Left ventricular hy... |
ORPHA:466791 |
| Atrial Septal Defect 1 |
|
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Secundum atrial septal defect... |
OMIM:108800 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Ventricular septal defect, Mitral regurgitation, Aortic regurgitation, Congestive heart failure |
OMIM:123700 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Splenomegaly, Skeletal muscle atrophy, Congestive heart failure, Abnormal heart mor... |
OMIM:608779 |
| Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Congestive heart failure |
ORPHA:137608 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Splenomegaly, Hematochezia, Dilated cardiomyopathy, Skeletal muscle atrophy, Cardio... |
OMIM:615895 |
| Aarskog-Scott Syndrome |
|
Camptodactyly of finger, Congestive heart failure |
ORPHA:915 |
| Brugada Syndrome 4 |
|
Atrial fibrillation, Shortened QT interval, Syncope |
OMIM:611876 |
| Gaucher Disease, Type Iiic |
|
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... |
OMIM:231005 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic valve stenosis, Mitral regurgitation, Intracranial hemorrhage, Mitral valve calcification,... |
ORPHA:363618 |
| Chromosome 18Q Deletion Syndrome |
|
Absence of the pulmonary valve, Aortic valve stenosis, Atrial septal defect, Dysplastic pulmonary... |
OMIM:601808 |
| Lethal Acantholytic Erosive Disorder |
|
Hypovolemic shock, Camptodactyly of toe, Impaired myocardial contractility, Cardiomyopathy, Cardi... |
ORPHA:158687 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Atrial septal defect, Right ventricular hypertrophy, Proximal muscle weakness in lower limbs, Fle... |
ORPHA:280633 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
| Mucopolysaccharidosis Type 1 |
|
Splenomegaly, Abnormal tendon morphology, Abnormal aortic valve morphology, Abnormal heart valve ... |
ORPHA:579 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Pulmonary arterial hypertension, Congestive heart failure |
OMIM:616482 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormal heart morphology, Atrial septal defect, Tricuspid regurgitation, Flexion contracture, Hy... |
ORPHA:505248 |
| Rett Syndrome |
|
Skeletal muscle atrophy, Abnormal T-wave, Prolonged QTc interval |
OMIM:312750 |
| Neonatal Inflammatory Skin And Bowel Disease |
|
Left ventricular hypertrophy |
ORPHA:294023 |
| Monosomy 18Q |
|
Absence of the pulmonary valve, Aortic valve stenosis, Secundum atrial septal defect, Dysplastic ... |
ORPHA:1600 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
EMG: myopathic abnormalities, Acute rhabdomyolysis, Arrhythmia, Abnormal EKG, Prolonged QT interval |
ORPHA:480864 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
| Geleophysic Dysplasia 1 |
|
Mitral stenosis, Hepatomegaly, Aortic valve stenosis, Joint contracture of the hand, Tricuspid st... |
OMIM:231050 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Sudden cardiac death, Tachycardia, Cardiomegaly, Ventricular septal defect, Rhabdom... |
OMIM:614921 |
| Osteogenesis Imperfecta, Type Ii |
|
Pulmonary insufficiency, Congestive heart failure |
OMIM:166210 |
| Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Hepatomegaly |
OMIM:260400 |
| Seckel Syndrome 10 |
|
Ventricular hypertrophy, Hypertension, Congestive heart failure |
OMIM:617253 |
| Martsolf Syndrome 1 |
|
Cardiac arrest, Cardiomyopathy, Congestive heart failure |
OMIM:212720 |
| Alstrom Syndrome |
|
Hypertension, Dilated cardiomyopathy, Hepatomegaly, Congestive heart failure |
OMIM:203800 |
| Short Qt Syndrome 3 |
|
Palpitations, Tachycardia, Shortened QT interval |
OMIM:609622 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Flexion contracture, Hypertensive crisis, Pulmonary arterial hyperten... |
ORPHA:220393 |
| Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Myocarditis, Myocardial infarction, Dilated cardiomyopathy, Abnormal ... |
ORPHA:3342 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Muscle fiber atrophy, EMG: myopathic abnormalities, Mitral valve prolapse, Wrist drop, Arterial r... |
ORPHA:1900 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:231625 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
| Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Mitral regurgitation, Tricuspid regurgitation, Right bundle branch block, Camptodactyly |
OMIM:619576 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Orthostatic syncope, Orthostatic hypotension, Abnormal EKG, Syncope |
ORPHA:230 |
| Drug-Induced Lupus Erythematosus |
|
Pericarditis, Pericardial effusion, Prolonged QTc interval |
ORPHA:231111 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:276621 |
| Leopard Syndrome 1 |
|
Bundle branch block, Pulmonic stenosis, Third degree atrioventricular block, Subvalvular aortic s... |
OMIM:151100 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Flexion contracture, Cardiomegaly |
OMIM:616897 |
| Sickle Cell Anemia |
|
Hypertension, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:603903 |
| Pheochromocytoma |
|
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Congest... |
OMIM:171300 |
| Hereditary Hemorrhagic Telangiectasia |
|
Telangiectasia of the skin, Mucosal telangiectasiae, Cerebral hemorrhage, Retinal telangiectasia,... |
ORPHA:774 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Dilated cardiomyopathy, Pericardial effusion, Congestive heart failure |
ORPHA:73224 |
| Nestor-Guillermo Progeria Syndrome |
|
Right atrial enlargement, Flexion contracture, Mitral regurgitation, Left atrial enlargement, Rig... |
OMIM:614008 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia |
ORPHA:2151 |
| Heart Block, Congenital |
|
Myocardial fibrosis, Absent atrioventricular node, Atrial arrhythmia, Mitral regurgitation, Myoca... |
OMIM:234700 |
| Bardet-Biedl Syndrome 1 |
|
Left ventricular hypertrophy, Hypertension |
OMIM:209900 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Arrhythmia, Abnormal myocardium morphology, Heart block, Cardiomyopathy, Cardiomegaly |
ORPHA:228308 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Ethylene Glycol Poisoning |
|
Facial palsy, Tachycardia, Hypotension, Shock, Hypertension, Atrial fibrillation, Prolonged QT in... |
ORPHA:31826 |
| Tetrasomy 5P |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Pulmonary arterial hypertension, Congestive... |
ORPHA:3309 |
| Mucolipidosis Ii Alpha/Beta |
|
Diastasis recti, Hepatomegaly, Macroglossia, Splenomegaly, Mitral regurgitation, Heart murmur, En... |
OMIM:252500 |
| Sandhoff Disease |
|
Hepatomegaly, Macroglossia, Orthostatic hypotension, Hepatosplenomegaly, Skeletal muscle atrophy,... |
OMIM:268800 |
| Refsum Disease |
|
Heart block, Skeletal muscle atrophy, Cardiomyopathy, Splenomegaly |
ORPHA:773 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hepatomegaly, Tricuspid regurgitation, Flexion contracture, Left ventricular hypertrophy, Mitral ... |
OMIM:619127 |
| Dilated Cardiomyopathy With Ataxia |
|
Muscular ventricular septal defect, Diaphragmatic eventration, Dilated cardiomyopathy, Prolonged ... |
ORPHA:66634 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure |
ORPHA:508542 |
| Crimean-Congo Hemorrhagic Fever |
|
Melena, Hemoperitoneum, Subdural hemorrhage, Hepatomegaly, Hemothorax, Myocarditis, Bundle branch... |
ORPHA:99827 |
| Atrial Tachyarrhythmia With Short Pr Interval |
|
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal ... |
OMIM:108950 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatomegaly, Hepatosplenomegaly, Gastrointestinal hemorrhage, Hypertension, Myopathy, Congestive... |
ORPHA:85450 |
| Waldenström Macroglobulinemia |
|
Hepatomegaly, Splenomegaly, Retinal hemorrhage, Vasculitis, Gastrointestinal hemorrhage, Epistaxi... |
ORPHA:33226 |
| Cutis Laxa, Autosomal Recessive, Type Iic |
|
Atrial septal defect, Tricuspid regurgitation, Mitral valve prolapse, Aortic regurgitation, Biven... |
OMIM:617402 |
| Recessive Mitochondrial Ataxia Syndrome |
|
ST segment elevation |
ORPHA:94125 |
| Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Facial palsy, Arrhythmia |
ORPHA:68 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Dilatation of the ventricular cavity, Abnormal cardiac ventricular function, Supravalvular aortic... |
ORPHA:90349 |
| Cerebellar-Facial-Dental Syndrome |
|
Abnormal T-wave, Limb hypertonia, Ventricular septal defect, Mitral valve prolapse, Foot joint co... |
ORPHA:444072 |
| Kawasaki Disease |
|
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... |
ORPHA:2331 |
| Erdheim-Chester Disease |
|
Abnormal aortic valve morphology, Abnormal pericardium morphology, Congestive heart failure |
ORPHA:35687 |
| Pancreatic insufficiency, combined exocrine |
|
Congestive heart failure |
OMIM:260450 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect... |
ORPHA:99125 |
| Triosephosphate Isomerase Deficiency |
|
Skeletal muscle atrophy, Splenomegaly, Myopathy, Congestive heart failure |
OMIM:615512 |
| Leigh Syndrome |
|
Multiple joint contractures, Ventricular septal defect, Hypertrophic cardiomyopathy, Skeletal mus... |
ORPHA:506 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Flexion contracture of finger, Atrial septal defect, Hepatomegaly, Splenomegaly, Pulmonic stenosi... |
OMIM:602782 |
| Cantú Syndrome |
|
Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:1517 |
| Weill-Marchesani Syndrome 2 |
|
Aortic valve stenosis, Pulmonic stenosis, Mitral regurgitation, Ventricular septal defect, Flexio... |
OMIM:608328 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Flexion contracture, Splenomegaly, Skeletal muscle hypertrophy, Muscular dystrophy,... |
OMIM:613327 |
| Pseudohypoparathyroidism Type 2 |
|
Prolonged QT interval |
ORPHA:94090 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Atrioventricular canal defect, Enlarged kidney, Ventricular septal defect, Cardiome... |
OMIM:306955 |
| Cranioectodermal Dysplasia 2 |
|
Atrial septal defect, Hepatomegaly, Splenomegaly, Left ventricular hypertrophy, Patent foramen ov... |
OMIM:613610 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Arrhythmia, Enlarged kidney, Increased muscle lipid content, Dilated cardiomyopathy... |
OMIM:608836 |
| Alternating Hemiplegia Of Childhood |
|
Abnormal T-wave, Arrhythmia, Cardiac conduction abnormality, Facial hypotonia, Cardiomyopathy |
ORPHA:2131 |
| Werner Syndrome |
|
Telangiectasia of the skin, Myocardial infarction, Hypertension, Skeletal muscle atrophy, Congest... |
ORPHA:902 |
| Schimke Immuno-Osseous Dysplasia |
|
Cerebral ischemia, Ischemic stroke, Hypertension, Transient ischemic attack, Pulmonary arterial h... |
ORPHA:1830 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Diastasis recti, Hepatomegaly, Atrial septal defect, Congenital diaphragmatic hernia, Right ventr... |
OMIM:312870 |
| Gitelman Syndrome |
|
Abnormal T-wave, ST segment depression, Raynaud phenomenon, Palpitations, Syncope, Rhabdomyolysis... |
ORPHA:358 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Abnormal left ventricular function, Bicuspid aortic valve, Hypovolemia, Subarachnoid hemorrhage, ... |
ORPHA:91387 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:29072 |
| Angioosteohypertrophic Syndrome |
|
Tricuspid valve prolapse, Telangiectasia of the skin, Pulmonary embolism, Gastrointestinal hemorr... |
ORPHA:2346 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Congestive heart failure |
ORPHA:2505 |
| Avian Influenza |
|
Rhabdomyolysis, Congestive heart failure |
ORPHA:454836 |
| Idiopathic Hypereosinophilic Syndrome |
|
Supraventricular arrhythmia, Vasculitis in the skin, Raynaud phenomenon, Splenomegaly, Intracrani... |
ORPHA:3260 |
| Simpson-Golabi-Behmel Syndrome |
|
Bundle branch block, Atrial septal defect, Hepatomegaly, Congenital diaphragmatic hernia, Splenom... |
ORPHA:373 |
| Abetalipoproteinemia |
|
Hepatomegaly, Cardiomegaly, Distal lower limb muscle weakness, Myopathy, Congestive heart failure |
ORPHA:14 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Facial hypotonia, Cardiomegaly |
OMIM:618798 |
| Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Overriding aorta, Cardiomegaly, Torticollis |
OMIM:617022 |
| Dominant Beta-Thalassemia |
|
High-output congestive heart failure, Hypoplasia of the musculature, Splenomegaly, Hepatosplenome... |
ORPHA:231226 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Torsade de pointes, Acute rhabdomyolysis, Prolonged QTc interval, Rhabdomyolysis, Ventricular tac... |
OMIM:616878 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Flexion contracture, Congestive heart failure |
OMIM:616271 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly, Telangiectasia of the oral mucosa |
ORPHA:79280 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Atrial septal defect, Tricuspid regurgitation, Pulmonic stenosis, Mitral regurgitation, Ventricul... |
OMIM:617506 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Palpitations, Prolonged QTc interval, Syncope, Bidirectional ventricular ectopy, Prominent U wave... |
OMIM:170390 |
| Beta-Thalassemia Major |
|
High-output congestive heart failure, Hepatomegaly, Hypoplasia of the musculature, Splenomegaly, ... |
ORPHA:231214 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Bicuspid aortic valve, Right ventricular hypertrophy, Partial anomalous pulmonary venous return, ... |
OMIM:150230 |
| Autoimmune Hypoparathyroidism |
|
Abnormal left ventricular function, Prolonged QT interval, Ventricular arrhythmia |
