His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy, Neoplasm of the heart |
ORPHA:3283 |
Cardiomyopathy, Dilated, 1R |
|
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left vent... |
OMIM:613424 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation... |
OMIM:604169 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, Ventricular a... |
OMIM:602087 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular hypertrophy, Left ventricular noncompaction, Sudden cardiac death, Congestive he... |
OMIM:601493 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Cardiac arrest, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left ventricular noncomp... |
OMIM:612158 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, Ventricular a... |
OMIM:602086 |
Atrial Standstill |
|
Reduced left ventricular ejection fraction, Cardiomyopathy, Abnormal heart morphology, Sick sinus... |
ORPHA:1344 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Reduced left ventricular ejection fraction, Distal lower limb muscle weakness, Achilles tendon co... |
OMIM:181350 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Syncope, Palpitations, Sudden cardiac death, Ventricular arrhyt... |
OMIM:610476 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Left ventricular systolic dysfunction, Mitral regurgitati... |
OMIM:615373 |
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies |
|
Asymmetric septal hypertrophy, Cardiomyocyte hypertrophy, Mitral regurgitation, Increased myocard... |
OMIM:620236 |
Heart-Hand Syndrome, Slovenian Type |
|
Abnormal electrophysiology of sinoatrial node origin, Arrhythmia, Supraventricular arrhythmia, Di... |
ORPHA:168796 |
Cardiomyopathy, Dilated, 1Gg |
|
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Congestive heart fail... |
OMIM:613642 |
Left Ventricular Noncompaction 10 |
|
Pulmonary arterial hypertension, Left ventricular noncompaction, Syncope, Congestive heart failur... |
OMIM:615396 |
Coronary Arterial Fistula |
|
Bacterial endocarditis, Atrial septal defect, Abnormal heart morphology, Angina pectoris, Patent ... |
ORPHA:2041 |
Cardiac Conduction Defect |
|
Syncope, Arrhythmia |
OMIM:115080 |
Loeffler Endocarditis |
|
Left ventricular diastolic dysfunction, Right bundle branch block, Mitral regurgitation, Left atr... |
ORPHA:75566 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Left atrial enlargement, Left ventricular hypertrophy, Reduced left ventricular e... |
OMIM:608751 |
Sick Sinus Syndrome 2 |
|
Prolonged QTc interval, Cardiac arrest, Paroxysmal atrial fibrillation, Left ventricular hypertro... |
OMIM:163800 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Muscular dystrophy, Cardiomyopathy, Arrhythmia, Calf muscle pseudohypertrophy |
OMIM:300376 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Arrhythmia, Sudden cardiac death |
OMIM:212500 |
Nathalie Syndrome |
|
Arrhythmia, Short stature |
ORPHA:2663 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Arrhythmia, Intrauterine growth retardation, Congestive heart failure, Dilated cardiomyopathy, Hy... |
OMIM:616198 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Arrhythmia, Hamstring contractures, Skeletal muscle atrophy, Skeletal muscle hypertrophy, EMG: my... |
OMIM:300696 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Minicore myopathy, Myopathy, Calf muscle hypertrophy, Arrhythmia, Severely reduced left ventricul... |
OMIM:611705 |
Incessant Infant Ventricular Tachycardia |
|
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Wolff-Parkinson-White syndrome, L... |
ORPHA:45453 |
Supravalvular Aortic Stenosis |
|
Arrhythmia, Supravalvular aortic stenosis |
ORPHA:3193 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure, Subvalvular aortic stenosis |
OMIM:192600 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Arrhythmia, Abnormal cardiac septum morphology, Bundle branch block |
ORPHA:1479 |
Long Qt Syndrome 15 |
|
Prolonged QTc interval, Cardiac arrest, Left ventricular noncompaction, Syncope, Ventricular bige... |
OMIM:616249 |
Cardiomyopathy, Dilated, 1P |
|
Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia |
OMIM:609909 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
ST segment elevation, Cardiomyocyte hypertrophy, Ventricular tachycardia, Shoulder girdle muscle ... |
ORPHA:263297 |
Cardiomyopathy, Dilated, 1E |
|
Reduced left ventricular ejection fraction, Syncope, Palpitations, Supraventricular tachycardia, ... |
OMIM:601154 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiac arrest, Left ventricular diastolic dysfunction, Cardiomyocyte hypertrophy, Concentric hyp... |
OMIM:618052 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Situs inversus totalis, Atrial situs ambiguous, Wolff-Parkinson-White syndrome, Atrial septal def... |
ORPHA:216694 |
Familial Dilated Cardiomyopathy |
|
Left ventricular systolic dysfunction, Mitral regurgitation, Reduced left ventricular ejection fr... |
ORPHA:217607 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Arrhythmia, Pulmonary embolism, Hypertension, Abnormal heart valve morphology, Congestive heart f... |
ORPHA:1345 |
Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Ventricular septal defect, Atrioventricular canal defect, Left ventricula... |
ORPHA:3092 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Cardiac arrest, Left anterior fascicular block, Ventricular tachycardia, Left ventricular hypertr... |
OMIM:612098 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Asymmetric septal hypertrophy, Ventricular tachycardia, Left ventricular hypertrophy, Palpitation... |
OMIM:608758 |
Atrial Septal Defect, Sinus Venosus Type |
|
Right bundle branch block, Pulmonary arterial hypertension, Systolic heart murmur, Automatic atri... |
ORPHA:99105 |
Cardiomyopathy, Dilated, 1D |
|
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Left ventricular noncom... |
OMIM:601494 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Asymmetric septal hypertrophy, Ventricular tachycardia, Reduced left ventricular ejection fractio... |
OMIM:613838 |
Ebstein Malformation Of The Tricuspid Valve |
|
Right bundle branch block, Atrial septal defect, Arrhythmia, Imperforate tricuspid valve, Atrial ... |
ORPHA:1880 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Asymmetric septal hypertrophy, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Syncope, Pa... |
OMIM:600858 |
Naxos Disease |
|
Prolonged QRS complex, Abnormal morphology of right ventricular trabeculae, Right ventricular car... |
OMIM:601214 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Cardiac arrest, Reduced left ventricular ejection fraction, Ventricular hypertrophy, Muscular ven... |
OMIM:115197 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Proximal amyotrophy, Myopathy, Arrhythmia, Cardiomyopathy, Muscular dystrophy, Scapular winging, ... |
OMIM:612999 |
Cardiac Diverticulum |
|
Abnormality of the diaphragm, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defec... |
ORPHA:1686 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Ventricular tachycardia, Ventricular couplet, Paroxysmal atrial fibrillation, Effort-induced poly... |
OMIM:604772 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Aortic regurgitation,... |
OMIM:616501 |
Partial Atrioventricular Septal Defect |
|
Mitral regurgitation, Hypoplastic left heart, Bacterial endocarditis, Tetralogy of Fallot, Syncop... |
ORPHA:1330 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Palpitations, S... |
OMIM:604400 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Heart block, Syncope, Supraventricular tachycardia, Sinoatrial block, Muscular dystrophy, Sudden ... |
ORPHA:300751 |
Peripartum Cardiomyopathy |
|
Myocarditis, Reduced left ventricular ejection fraction, Abnormal atrioventricular valve morpholo... |
ORPHA:563 |
Obsolete: Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Distal lower limb muscle weakness, Hand muscle weakness, Increased endomysial connective tissue, ... |
ORPHA:437572 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Arrhythmi... |
ORPHA:85451 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Abnormal mitochondria in muscle tissue, Left ventricular noncompaction, Short stature, Dilated ca... |
OMIM:252011 |
Polyvalvular Heart Disease Syndrome |
|
Pulmonic stenosis, Arrhythmia, Abnormal heart valve morphology, Short stature, Tricuspid regurgit... |
ORPHA:228410 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Myopathy, Arrhythmia, Hypertension,... |
OMIM:540000 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Arrhythmia, Polyhydramnios, Capillary leak, Abnormal heart morphology,... |
ORPHA:1041 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Cardiac arrest, Prolonged QTc interval, Left anterior fascicular block, Atrial fibrillation, Paro... |
OMIM:616117 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Arrhythmia, Camptodactyly, Short stature |
OMIM:618453 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Syncope, T-wave... |
OMIM:611528 |
Cirrhotic Cardiomyopathy |
|
Left ventricular diastolic dysfunction, Third heart sound, Global systolic dysfunction, Reduced l... |
ORPHA:57777 |
Familial Isolated Restrictive Cardiomyopathy |
|
Interstitial cardiac fibrosis, Mitral regurgitation, Left atrial enlargement, Syncope, Pulmonary ... |
ORPHA:75249 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increased variability ... |
OMIM:617228 |
Maternally-Inherited Diabetes And Deafness |
|
Arrhythmia, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy |
ORPHA:225 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Abnormal pulmonary valve morphology, Camptodactyly of finger, Arrhythmia, Intrauterine growth ret... |
ORPHA:1194 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Palpitations, Premature ventricular contraction, Left bundle branch bloc... |
OMIM:618920 |
Cardiomyopathy, Dilated, 1A |
|
Second degree atrioventricular block, First degree atrioventricular block, Sudden cardiac death, ... |
OMIM:115200 |
Attrv30M Amyloidosis |
|
Arrhythmia, Cardiomyopathy, Cardiomegaly, Atrioventricular block |
ORPHA:85447 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Cardiac arrest, Ventricular tachycardia, Fibrofatty replacement of right ventricular myocardium, ... |
OMIM:609040 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Pulmonary arterial hypertension, Syncope, Palpitations, Elevated jugular venous pressure, Tricusp... |
ORPHA:422 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Left ventricular noncompaction, Hypertrophic cardiomyopathy |
OMIM:615917 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Pulmonary arterial hypertension, Systolic heart murmur, Pulmonic ... |
ORPHA:99095 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Reduced left ventricular ejection fraction, Hydrops fetalis, Arrhythmia, Supraventr... |
ORPHA:45452 |
Atrial Septal Defect, Ostium Secundum Type |
|
Abnormal mitral valve morphology, Tricuspid regurgitation, Transient ischemic attack, Supraventri... |
ORPHA:99103 |
Cardiomyopathy, Dilated, 1S |
|
Interstitial cardiac fibrosis, Pulmonary arterial hypertension, Ventricular tachycardia, Mitral r... |
OMIM:613426 |
Leber Hereditary Optic Neuropathy |
|
Retinal telangiectasia, Arrhythmia, Ventricular preexcitation, Myopathy |
ORPHA:104 |
Naxos Disease |
|
Arrhythmia, Cardiomyopathy, Sudden cardiac death, Congestive heart failure, Paroxysmal ventricula... |
ORPHA:34217 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Ventricular tachycardia, Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Sudden car... |
OMIM:610193 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Arrhythmia, Skeletal muscle atrophy, Gastrointestinal hemorrhage, Spina bifida occulta, Mitral va... |
ORPHA:230839 |
Hemochromatosis, Type 2A |
|
Arrhythmia, Cardiomyopathy, Congestive heart failure, Dilated cardiomyopathy |
OMIM:602390 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Situs inversus totalis, Atrial septal defect, Ventricular septal defect, Arrhythmia, Cardiomyopat... |
OMIM:249270 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Ventricular tachycardia, Left ventricular hypertrophy, Palpitations, Angina pectoris, Hypertrophi... |
OMIM:613873 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Reduced left ventricular ejection fraction, Pulmonary venous hypertension,... |
ORPHA:75565 |
Propionic Acidemia |
|
Arrhythmia, Cardiomyopathy |
ORPHA:35 |
Dk1-Cdg |
|
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Arrhythmia, Short stature, Congestive h... |
ORPHA:91131 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Angina pectoris, Bradycardia, Atrial fibrillation, Mitral regurgitation, ... |
ORPHA:66529 |
Congenital Left Ventricular Aneurysm |
|
Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnormal ST segment, Congestive ... |
ORPHA:1055 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Paroxysmal atrial fibrillation, Reduced left ventricular ejection fraction, Syncope, Palpitations... |
ORPHA:1677 |
Atrial Septal Defect, Ostium Primum Type |
|
Tricuspid regurgitation, Atrial fibrillation, Pulmonary arterial hypertension, Third heart sound,... |
ORPHA:99106 |
Symmetrical Thalamic Calcifications |
|
Polyhydramnios, Arrhythmia |
ORPHA:1314 |
Craniofaciofrontodigital Syndrome |
|
Macroglossia, Pulmonary arterial hypertension, Mitral regurgitation, Edema, Atrial septal defect,... |
ORPHA:363705 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Arrhythmia, Myocardial infarction, Pulmonary edema, Congestive heart failure, Ortho... |
ORPHA:330001 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormal pulmonary valve morphology, Aplasia/Hypoplasia of the abdominal wall musculature, Pulmon... |
ORPHA:500 |
Pericardial And Diaphragmatic Defect |
|
Aplasia of the left hemidiaphragm, Tetralogy of Fallot, Atrial septal defect, Palpitations, Abnor... |
ORPHA:2847 |
Dystonia 23 |
|
Arrhythmia, Torticollis |
OMIM:614860 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Pulmonic stenosis, Arrhythmia, Paroxysmal supraventricular tachycardia, Perimembranous ventricula... |
OMIM:617877 |
Atrial Septal Defect, Coronary Sinus Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Right ventricular failure, Unroofed coron... |
ORPHA:99104 |
Cardiomyopathy, Dilated, 1Nn |
|
Mitral regurgitation, Reduced left ventricular ejection fraction, Abnormal ST segment, Congestive... |
OMIM:615916 |
Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Arrhythmia, Cardiomyopathy, Hamstring contractures, Knee flexion contracture, Muscu... |
OMIM:310200 |
Brugada Syndrome |
|
Cardiac arrest, ST segment elevation, Syncope, Supraventricular tachycardia, Trifascicular block,... |
ORPHA:130 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Proximal amyotrophy, Arrhythmia, Facial palsy, Dilated cardiomyopathy, Generalized amyotrophy, Ra... |
OMIM:615084 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arrhythmia, Cardiomyopathy, Hypertension |
ORPHA:3222 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Mitral regurgitation, Left ventricular systolic dysfunction, Left ventricular hypertrophy, Left v... |
OMIM:619167 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Arrhythmia, Sick sinus syndrome, Prolonged PR interval, Patent foramen ovale, Bradycardia, Ventri... |
ORPHA:542306 |
Muscular Dystrophy, Progressive Pectorodorsal |
|
Arrhythmia, Muscular dystrophy, Shoulder girdle muscle weakness, Scapular winging |
OMIM:310095 |
Hemochromatosis, Type 4 |
|
Arrhythmia, Cardiomyopathy |
OMIM:606069 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Cardiac arrest, Ventricular tachycardia, Syncope, Palpitations, Bidirectional ventricular tachyca... |
OMIM:614021 |
Noonan Syndrome 5 |
|
Pulmonic stenosis, Atrial septal defect, Arrhythmia, Polyhydramnios, Short stature, Hypertrophic ... |
OMIM:611553 |
Polymyositis |
|
Vasculitis, Arrhythmia, Abnormal mitral valve morphology, Abnormal muscle fiber morphology, Gastr... |
ORPHA:732 |
Familial Progressive Cardiac Conduction Defect |
|
Heart block, Syncope, Arrhythmia, Bundle branch block, Congestive heart failure |
ORPHA:871 |
Rheumatic Fever |
|
Myocarditis, Aplasia/Hypoplasia of the abdominal wall musculature, Endocarditis, Arrhythmia, Abno... |
ORPHA:3099 |
Hec Syndrome |
|
Polyhydramnios, Arrhythmia, Cardiomyopathy, Endocardial fibroelastosis |
ORPHA:2119 |
Hemochromatosis, Type 1 |
|
Arrhythmia, Cardiomyopathy, Telangiectasia, Congestive heart failure, Pleural effusion, Cardiomeg... |
OMIM:235200 |
Neonatal Lupus Erythematosus |
|
Abnormal electrophysiology of sinoatrial node origin, Heart block, Arrhythmia, Abnormal heart mor... |
ORPHA:398124 |
Cardiac Valvular Dysplasia 2 |
|
Left ventricular diastolic dysfunction, Systolic heart murmur, Pulmonic stenosis, Dysplastic aort... |
OMIM:620067 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Exercise-induced rhabdomyolysis, Ventricular tachycardia, Tachycardia, Atrial septal defect, Vent... |
ORPHA:26793 |
Infantile Refsum Disease |
|
Arrhythmia, Cardiomyopathy, Short stature, Facial palsy |
ORPHA:772 |
Subaortic Stenosis-Short Stature Syndrome |
|
Short stature, Arrhythmia, Subvalvular aortic stenosis, Membranous subvalvular aortic stenosis |
ORPHA:3191 |
Refsum Disease, Classic |
|
Arrhythmia, Cardiomyopathy, Congestive heart failure, Cardiomegaly, Limb muscle weakness |
OMIM:266500 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Myopathy, Arrhythmia, Weakness of facial musculature, Dilated cardiomyopathy, Generalized amyotro... |
ORPHA:352447 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Arrhythmia, Cardiomyopathy, EMG: myopathic abnormalities, Bradycardia, Ragged-red muscle fibers, ... |
OMIM:609286 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Umbilical hernia, Arrhythmia, Hypertension, Intrauterine growth retardation, Neonatal death, Grow... |
OMIM:614052 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Arrhythmia, Sudden cardiac death, Skeletal muscle atrophy, Hypertrophic cardiomyopathy |
ORPHA:156 |
Fabry Disease |
|
Delayed puberty, Left ventricular hypertrophy, Arrhythmia, Hypertension, Transient ischemic attac... |
OMIM:301500 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Palpitations, Atrial standstill, Cardiomyopathy, Absent P wave, Bradycardi... |
OMIM:615745 |
Barth Syndrome |
|
Arrhythmia, Skeletal myopathy, Tricuspid regurgitation, Growth delay, Congestive heart failure, D... |
OMIM:302060 |
Al Amyloidosis |
|
Macroglossia, Abnormal EKG, Reduced left ventricular ejection fraction, Abnormal cardiac atrium m... |
ORPHA:85443 |
Congenital Hypothyroidism |
|
Macroglossia, Hypotension, Umbilical hernia, Arrhythmia, Hypertension, Short stature, Palpebral e... |
ORPHA:442 |
American Trypanosomiasis |
|
Myocarditis, Edema, Arrhythmia, Cardiomyopathy, Periorbital edema, Congestive heart failure |
ORPHA:3386 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Myopathy, Arrhythmia, Skeletal muscle atrophy, Congestive heart failure, Flexion contracture |
ORPHA:157973 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Arrhythmia, Muscular dystrophy, Generalized amyotrophy, Elbow flexion contracture, Joint contracture |
OMIM:616516 |
Eisenmenger Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Atrioventricular canal defect, Bacterial endocarditis,... |
ORPHA:97214 |
Wolff-Parkinson-White Syndrome |
|
Ventricular preexcitation with multiple accessory pathways, Prolonged QRS complex, Wolff-Parkinso... |
OMIM:194200 |
Systemic Capillary Leak Syndrome |
|
Myocarditis, Hypotension, Arrhythmia, Pulmonary edema, Pleural effusion, Pericarditis, Pedal edema |
ORPHA:188 |
Ataxia With Vitamin E Deficiency |
|
Arrhythmia, Skeletal muscle atrophy, Hypertrophic cardiomyopathy |
ORPHA:96 |
Laubry-Pezzi Syndrome |
|
Right ventricular outlet tract obstruction, Subarterial ventricular septal defect, Left ventricul... |
ORPHA:99094 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Rhabdomyolysis, Myopathy, Arrhythmia, Cardiomyopathy, Ventricular hypertrophy |
ORPHA:228305 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Myopathy, Arrhythmia, Skeletal muscle atrophy, Cardiomegaly |
ORPHA:42 |
Chromosome 2Q37 Deletion Syndrome |
|
Short stature, Arrhythmia, Subvalvular aortic stenosis |
OMIM:600430 |
Wild Type Abeta2M Amyloidosis |
|
Macroglossia, Abnormality of the thenar eminence, Abnormal tendon morphology, Arrhythmia, Gastroi... |
ORPHA:85446 |
Idiopathic Pulmonary Arterial Hypertension |
|
Pulmonary arterial hypertension, Syncope, Palpitations, Tricuspid regurgitation, Right ventricula... |
ORPHA:275766 |
19P13.12 Microdeletion Syndrome |
|
Mitral regurgitation, Atrial septal defect, Ventricular septal defect, Arrhythmia, Intrauterine g... |
ORPHA:254346 |
Lymphedema-Distichiasis Syndrome |
|
Nonimmune hydrops fetalis, Tetralogy of Fallot, Ventricular septal defect, Arrhythmia, Predominan... |
OMIM:153400 |
Kearns-Sayre Syndrome |
|
Arrhythmia, Cardiomyopathy, Short stature, Third degree atrioventricular block, Ragged-red muscle... |
OMIM:530000 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Arrhythmia, Skeletal muscle atrophy, Hand muscle atrophy |
ORPHA:99944 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Rhabdomyolysis, Myopathy, Hydrops fetalis, Arrhythmia, Congestive heart failure, Dilated cardiomy... |
OMIM:609015 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Arrhythmia, Camptodactyly of finger, Short stature |
ORPHA:2928 |
Singleton-Merten Syndrome 2 |
|
Arrhythmia, Aortic valve stenosis, Short stature, Aortic valve calcification |
OMIM:616298 |
Ogden Syndrome |
|
Torticollis, Ventricular septal defect, Arrhythmia, Postnatal growth retardation, Cardiogenic shock |
ORPHA:276432 |
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Arrhythmia |
ORPHA:1808 |
Mitochondrial Trifunctional Protein Deficiency |
|
Rhabdomyolysis, Mitral regurgitation, Left ventricular hypertrophy, Lower limb muscle weakness, A... |
ORPHA:746 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Abnormality of the calf musculature, Coronary artery stenosis, Palpitations, Cardiomyopathy, Low-... |
ORPHA:565612 |
Carnitine Palmitoyltransferase I Deficiency |
|
Arrhythmia, Cardiomegaly |
OMIM:255120 |
Pagod Syndrome |
|
Situs inversus totalis, Encephalocele, Hypoplastic left heart, Spina bifida, Meningocele, Arrhyth... |
ORPHA:991 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Atrial septal defect, Arrhythmia, Intrauterine growth retardation, Patent foramen ovale, Postnata... |
OMIM:619184 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Joint swelling, Decreased muscle mass, Arrhythmia, Cardiomyopathy, Elevated jugular venous pressu... |
ORPHA:465508 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Rhabdomyolysis, Arrhythmia, Cardiomyopathy, Skeletal muscle atrophy, Abnormal heart morphology, S... |
ORPHA:26791 |
Jervell And Lange-Nielsen Syndrome |
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Prolonged QTc interval, Torsade de pointes, Syncope, Arrhythmia, Ventricular fibrillation |
ORPHA:90647 |
Progressive Familial Heart Block, Type Ib |
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Left anterior fascicular block, Syncope, Arrhythmia, Atrioventricular block, Shortened PR interva... |
OMIM:604559 |
Fabry Disease |
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Delayed puberty, Mitral regurgitation, Left ventricular hypertrophy, Telangiectasia of the skin, ... |
ORPHA:324 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
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Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Decreased muscle mass, A... |
ORPHA:57 |
Mgat2-Cdg |
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Ventricular septal defect, Reflex asystolic syncope, Arrhythmia, Hydrops fetalis, Abnormal heart ... |
ORPHA:79329 |
Ogden Syndrome |
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Secundum atrial septal defect, Ventricular septal defect, Atrial septal defect, Perimembranous ve... |
OMIM:300855 |
Carnitine-Acylcarnitine Translocase Deficiency |
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Rhabdomyolysis, Ventricular tachycardia, Hypotension, Arrhythmia, Cardiomyopathy |
ORPHA:159 |
Autosomal Dominant Progressive External Ophthalmoplegia |
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Shoulder girdle muscle weakness, Reduced left ventricular ejection fraction, Left ventricular hyp... |
ORPHA:254892 |
Ileal Neuroendocrine Tumor |
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Hypotension, Pulmonic stenosis, Right ventricular failure, Arrhythmia, Palpitations, Cardiogenic ... |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
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Hypotension, Pulmonic stenosis, Right ventricular failure, Arrhythmia, Palpitations, Cardiogenic ... |
ORPHA:100077 |
Juvenile Dermatomyositis |
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Vasculitis, Arrhythmia, Cardiomyopathy, Mucosal telangiectasiae, Palpebral edema, Angina pectoris... |
ORPHA:93672 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Hypotension, Reduced left ventricular ejection fraction, Heart block, Arrhythmia, Capillary leak,... |
ORPHA:542323 |
Liddle Syndrome |
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Arrhythmia, Hypertension, Cerebral ischemia |
ORPHA:526 |
Legionnaires Disease |
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Myocarditis, Endocarditis, Hypotension, Arrhythmia, Pericarditis |
ORPHA:549 |
Mucopolysaccharidosis Type 2 |
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Macroglossia, Abnormal pulmonary valve morphology, Umbilical hernia, Cardiomyopathy, Abnormal mit... |
ORPHA:580 |
Agel Amyloidosis |
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Edema, Arrhythmia, Cardiomyopathy, Xerostomia, Blepharochalasis, Facial palsy, Orthostatic hypote... |
ORPHA:85448 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
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Arrhythmia, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Type 2 muscle fiber predominanc... |
OMIM:615471 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
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Macroglossia, Pulmonary arterial hypertension, Absent muscle fiber merosin, Reduced left ventricu... |
ORPHA:258 |
Specc1L-Related Hypertelorism Syndrome |
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Atrial septal defect, Tetralogy of Fallot, Umbilical hernia, Ventricular septal defect, Arrhythmi... |
ORPHA:1519 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
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Cardiac arrest, Arrhythmia, Growth delay |
ORPHA:168593 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Delayed puberty, Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Ventricular... |
OMIM:300967 |
Thrombotic Thrombocytopenic Purpura |
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Myocardial infarction, Arrhythmia |
ORPHA:54057 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
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Antenatal intracerebral hemorrhage, Arrhythmia, Knee flexion contracture, Dilated cardiomyopathy,... |
OMIM:608836 |
Scorpion Envenomation |
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Myocarditis, Rhabdomyolysis, Edema, Arrhythmia, Hypertension, Prominent U wave, Premature ventric... |
ORPHA:466677 |
Mucopolysaccharidosis Type 2, Severe Form |
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Macroglossia, Abnormal pulmonary valve morphology, Camptodactyly of finger, Umbilical hernia, Car... |
ORPHA:217085 |
Phakomatosis Pigmentokeratotica |
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Raynaud phenomenon, Spina bifida, Arrhythmia, Lymphedema, Rhabdomyosarcoma |
ORPHA:2874 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5 |
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Arrhythmia, Mildly reduced left ventricular ejection fraction |
OMIM:618098 |
Mucopolysaccharidosis Type 2, Attenuated Form |
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Macroglossia, Abnormal pulmonary valve morphology, Camptodactyly of finger, Umbilical hernia, Car... |
ORPHA:217093 |
Typhoid |
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Cardiac arrest, Arrhythmia, Epistaxis, Gastrointestinal hemorrhage |
ORPHA:99745 |
Familial Multiple Nevi Flammei |
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Arrhythmia, Intracranial hemorrhage, Edema, Pulmonary embolism |
ORPHA:624 |
Microscopic Polyangiitis |
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Vasculitis, Arrhythmia, Gastrointestinal hemorrhage, Congestive heart failure, Epistaxis, Pericar... |
ORPHA:727 |
Giant Cell Arteritis |
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Vasculitis, Double outlet right ventricle with subpulmonary ventricular septal defect without pul... |
ORPHA:397 |
Spontaneous Periodic Hypothermia |
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Arrhythmia |
ORPHA:29822 |
Colchicine Poisoning |
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Myocarditis, Dehydration, Hypotension, Arrhythmia, Congestive heart failure, Hypovolemia, Cardiog... |
ORPHA:31824 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Atrial septal defect, Ventricular septal defect, Arrhythmia, Short stature, Overriding aorta, Jun... |
OMIM:309801 |
Acquired Methemoglobinemia |
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Syncope, Palpitations, Tachycardia, Arrhythmia |
ORPHA:464453 |
Duodenal Neuroendocrine Tumor |
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Hypotension, Pulmonic stenosis, Right ventricular failure, Arrhythmia, Palpitations, Edema, Melen... |
ORPHA:100076 |
Heart-Hand Syndrome Type 2 |
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Arrhythmia |
ORPHA:1350 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Heart block, Arrhythmia, Cardiomyopathy, Abnormal myocardium morphology, Cardiomegaly |
ORPHA:228308 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
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Arrhythmia |
OMIM:616949 |
Kleefstra Syndrome |
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Macroglossia, Tetralogy of Fallot, Ventricular septal defect, Arrhythmia, Short stature, Bicuspid... |
ORPHA:261494 |
Lymphedema-Distichiasis Syndrome |
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Arrhythmia, Predominantly lower limb lymphedema, Patent ductus arteriosus |
ORPHA:33001 |
Spinocerebellar Ataxia, Autosomal Recessive 33 |
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Arrhythmia |
OMIM:620208 |
Oculodentodigital Dysplasia |
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Umbilical hernia, Camptodactyly of finger, Arrhythmia, Ventricular septal defect |
ORPHA:2710 |
Ulnar-Mammary Syndrome |
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Delayed puberty, Camptodactyly of finger, Ventricular septal defect, Arrhythmia, Short stature, A... |
ORPHA:3138 |
Hyperkalemic Periodic Paralysis |
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Myopathy, Arrhythmia, Skeletal muscle atrophy, Skeletal muscle hypertrophy, Congestive heart fail... |
ORPHA:682 |
Dominant Beta-Thalassemia |
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Delayed puberty, High-output congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Growth... |
ORPHA:231226 |
Lyme Disease |
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Arrhythmia, Atrioventricular block, Joint swelling |
ORPHA:91546 |
Holoprosencephaly |
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Encephalocele, Spinal dysraphism, Abnormal pulmonary valve morphology, Ventricular septal defect,... |
ORPHA:2162 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
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Arrhythmia, Camptodactyly of finger, Short stature |
ORPHA:3201 |
Familial Isolated Hypoparathyroidism |
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Arrhythmia, Short stature, Myopathy |
ORPHA:2238 |
Von Hippel-Lindau Disease |
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Myocarditis, Distal lower limb muscle weakness, Arrhythmia, Cardiomyopathy, Hypertension, Palpita... |
ORPHA:892 |
Generalized Pseudohypoaldosteronism Type 1 |
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Hypovolemic shock, Arrhythmia, Proportionate short stature, Dehydration |
ORPHA:171876 |
Carnitine Palmitoyltransferase Ii Deficiency |
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Rhabdomyolysis, Arrhythmia, Cardiomyopathy, Myopathy |
ORPHA:157 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Myocarditis, Arrhythmia, Atrioventricular block, Rhizomelic arm shortening, Disproportionate shor... |
ORPHA:93317 |
Alternating Hemiplegia Of Childhood |
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Abnormal T-wave, Dehydration, Arrhythmia, Cardiomyopathy, Cardiac conduction abnormality, Facial ... |
ORPHA:2131 |
Beta-Thalassemia Major |
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Delayed puberty, High-output congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Growth... |
ORPHA:231214 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
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Arrhythmia, Ventricular bigeminy, Facial palsy, Left bundle branch block, Limb muscle weakness |
OMIM:610131 |
16P11.2P12.2 Microdeletion Syndrome |
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Camptodactyly of finger, Arrhythmia, Intrauterine growth retardation, Short stature, Tricuspid re... |
ORPHA:261211 |
Dermatomyositis |
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Myocarditis, Pulmonary arterial hypertension, Vasculitis, Edema, Sinus tachycardia, Arrhythmia, I... |
ORPHA:221 |
Kawasaki Disease |
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Myocarditis, Vasculitis, Edema, Double outlet right ventricle with subpulmonary ventricular septa... |
ORPHA:2331 |
Genetic Recurrent Myoglobinuria |
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Viral infection-induced rhabdomyolysis, Lower limb muscle weakness, Arrhythmia, Abnormality of ja... |
ORPHA:99845 |
Noonan Syndrome |
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Abnormal pulmonary valve morphology, Aplasia/Hypoplasia of the abdominal wall musculature, Arrhyt... |
ORPHA:648 |
Schwartz-Jampel Syndrome |
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Pulmonary arterial hypertension, Myopathy, Flexion contracture of toe, Umbilical hernia, Arrhythm... |
ORPHA:800 |
Microphthalmia With Linear Skin Defects Syndrome |
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Mitral regurgitation, Severe short stature, Arrhythmia, Tricuspid valve prolapse, Tricuspid regur... |
ORPHA:2556 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
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Arrhythmia, Cerebral ischemia, Telangiectasia of the skin |
ORPHA:60040 |
Familial Mediterranean Fever |
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Vasculitis, Arrhythmia, Myocardial infarction, Pericarditis, Pedal edema, Ascites |
ORPHA:342 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
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Abnormal EKG, Arrhythmia, EMG: myopathic abnormalities, Prolonged QT interval, Acute rhabdomyolysis |
ORPHA:480864 |
Autoimmune Hemolytic Anemia |
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Arrhythmia, Congestive heart failure |
ORPHA:98375 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
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Arrhythmia, Prolonged QT interval |
ORPHA:2151 |
Costello Syndrome |
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Macroglossia, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Arrhythmia, Pol... |
OMIM:218040 |
Neuroleptic Malignant Syndrome |
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Rhabdomyolysis, Dehydration, Hypotension, Arrhythmia, Hypertension, Pulmonary embolism, Bradycard... |
ORPHA:94093 |
Mastocytosis |
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Hypotension, Angioedema, Arrhythmia, Gastrointestinal hemorrhage, Telangiectasia of the skin |
ORPHA:98292 |
Granulomatosis With Polyangiitis |
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Vasculitis, Recurrent intrapulmonary hemorrhage, Arrhythmia, Periorbital edema, Hypertension, Ang... |
ORPHA:900 |
Hennekam-Beemer Syndrome |
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Camptodactyly of finger, Hypotension, Arrhythmia, Short stature, Telangiectasia of the skin |
ORPHA:2135 |
Localized Scleroderma |
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Raynaud phenomenon, Vasculitis, Myopathy, Arrhythmia, Skeletal muscle atrophy, Flexion contracture |
ORPHA:90289 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Macroglossia, Diastasis recti, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect... |
OMIM:312870 |
Oculodentodigital Dysplasia |
|
Joint contracture of the 5th finger, Arrhythmia, Atrial septal defect |
OMIM:164200 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Arrhythmia |
OMIM:273400 |
Botulism |
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Arrhythmia, Xerostomia |
ORPHA:1267 |
Foodborne Botulism |
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Arrhythmia, Xerostomia |
ORPHA:228371 |
Amoebiasis Due To Free-Living Amoebae |
|
Arrhythmia, Myocardial necrosis, Cerebral edema, Facial palsy |
ORPHA:68 |
Carney Triad |
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Arrhythmia, Hypertension, Leiomyosarcoma, Gastrointestinal hemorrhage, Tachycardia, Ascites |
ORPHA:139411 |
Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
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Arrhythmia, Camptodactyly of finger, Short stature |
ORPHA:3220 |
Leber Optic Atrophy |
|
Arrhythmia, Myopathy |
OMIM:535000 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Myocarditis, Atrial septal defect, Arrhythmia, Rhizomelia, Disproportionate short stature |
OMIM:250220 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Macroglossia, Camptodactyly of finger, Flexion contracture of toe, Arrhythmia, Skeletal muscle at... |
OMIM:256040 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
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Arrhythmia, Short stature |
OMIM:171480 |
Leptospirosis |
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Rhabdomyolysis, Pleural effusion, Hypotension, Arrhythmia, First degree atrioventricular block, S... |
ORPHA:509 |
African Trypanosomiasis |
|
Myocarditis, Abnormal EKG, Arrhythmia, Second degree atrioventricular block, Myelopathy, Congesti... |
ORPHA:3385 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Arrhythmia |
ORPHA:2878 |
Wiskott-Aldrich Syndrome |
|
Vasculitis, Recurrent intrapulmonary hemorrhage, Hematochezia, Arrhythmia, Intracranial hemorrhag... |
ORPHA:906 |
Ivic Syndrome |
|
Arrhythmia, Severe short stature |
ORPHA:2307 |
Cockayne Syndrome A |
|
Severe postnatal growth retardation, Arrhythmia, Hypertension, Intrauterine growth retardation, S... |
OMIM:216400 |
Plague |
|
Hypotension, Endocarditis, Edema, Arrhythmia, Hematemesis, Tachycardia |
ORPHA:707 |
Cockayne Syndrome B |
|
Severe short stature, Arrhythmia, Hypertension, Intrauterine growth retardation, Postnatal growth... |
OMIM:133540 |
Stickler Syndrome |
|
Macroglossia, Arrhythmia, Skeletal muscle atrophy, Short stature, Mitral valve prolapse |
ORPHA:828 |
Ulnar-Mammary Syndrome |
|
Arrhythmia, Delayed puberty, Elbow flexion contracture, Ventricular septal defect |
OMIM:181450 |
Autosomal Dominant Hypocalcemia |
|
Arrhythmia, Congestive heart failure, Hypotension |
ORPHA:428 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Arrhythmia, Aortic regurgitation |
OMIM:106300 |
Sarcoidosis |
|
Ventricular tachycardia, Joint swelling, Heart block, Arrhythmia, Abnormal cardiac ventricular fu... |
ORPHA:797 |
Hypermobile Ehlers-Danlos Syndrome |
|
Umbilical hernia, Aplasia/Hypoplasia of the abdominal wall musculature, Tendon rupture, Arrhythmia |
ORPHA:285 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Arrhythmia, Arthrogryposis multiplex congenita |
ORPHA:163746 |