| Atrial Septal Defect 1 |
|
Secundum atrial septal defect, Ventricular septal defect, Atrial septal defect, Second degree atr... |
OMIM:108800 |
| Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Hypoplastic left heart, Muscular ventricular septal defect |
OMIM:614474 |
| Atrial Septal Defect 4 |
|
Coarctation of aorta, Patent foramen ovale, Atrial septal defect |
OMIM:611363 |
| Progressive Familial Heart Block, Type Ia |
|
Left anterior fascicular block, Syncope, Sudden cardiac death, Prolonged PR interval, Left poster... |
OMIM:113900 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Hypotension, Reduced left ventricular ejection fraction, Aortic aneurysm, Right atrial enlargemen... |
OMIM:612422 |
| Brugada Syndrome 2 |
|
Syncope, First degree atrioventricular block, Sudden cardiac death, Prolonged PR interval, Ventri... |
OMIM:611777 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, Ventricular a... |
OMIM:602087 |
| Cardiomyopathy, Dilated, 1U |
|
Left ventricular hypertrophy, Syncope, Severely reduced left ventricular ejection fraction, First... |
OMIM:613694 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Ventricular septal defect, Tetralogy of Fallot, Atrial septal defect, Bicuspid aortic valve, Doub... |
OMIM:617912 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Coarctation of aorta, Hypoplastic left heart, Ventricular septal defect, Tetralogy of Fallot, Atr... |
OMIM:615779 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Pulmonary artery atresia, Ventricular septal defect, Left ventricu... |
OMIM:108900 |
| Atrial Fibrillation, Familial, 13 |
|
Aortic valve stenosis, Paroxysmal atrial fibrillation, Left atrial enlargement |
OMIM:615377 |
| Cardiomyopathy, Dilated, 1Nn |
|
Mitral regurgitation, Reduced left ventricular ejection fraction, Abnormal ST segment, Congestive... |
OMIM:615916 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, Ventricular a... |
OMIM:602086 |
| Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
| Aortic Valve Disease 3 |
|
Aortic root aneurysm, Atrial septal defect, Bicuspid aortic valve, Aortic valve stenosis, Ascendi... |
OMIM:618496 |
| Atrial Standstill 1 |
|
Atrial cardiomyopathy, Paroxysmal atrial fibrillation, Atrial standstill, First degree atrioventr... |
OMIM:108770 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Prolonged QTc interval, Left anterior fascicular block, Mitral regurgitation, Left atrial enlarge... |
OMIM:617047 |
| Congenital Left Ventricular Aneurysm |
|
Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnormal ST segment, Congestive ... |
ORPHA:1055 |
| Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
| Glycogen Storage Disease Xv |
|
ST segment elevation, Cardiomyocyte hypertrophy, Type 1 muscle fiber predominance, Scapular wingi... |
OMIM:613507 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Palpitations, Premature ventricular contraction, Left bundle branch bloc... |
OMIM:618920 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Ventricular septal defect, Aortic aneurysm, Tetralogy of Fallot, Left ventricular outflow tract o... |
OMIM:614980 |
| Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Arrhythmia, Abnormal cardiac septum morphology, Bundle branch block |
ORPHA:1479 |
| Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart |
OMIM:241550 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Heart block, Syncope, Supraventricular tachycardia, Sinoatrial block, Muscular dystrophy, Sudden ... |
ORPHA:300751 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ... |
OMIM:613243 |
| Long Qt Syndrome 13 |
|
Cardiac arrest, Prolonged QTc interval, Reduced left ventricular ejection fraction, Torsade de po... |
OMIM:613485 |
| His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy, Neoplasm of the heart |
ORPHA:3283 |
| Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Muscular dystrophy, Cardiomyopathy, Arrhythmia, Calf muscle pseudohypertrophy |
OMIM:300376 |
| Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial septal defect, B... |
OMIM:618719 |
| Long Qt Syndrome 10 |
|
T-wave alternans, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, Atrial fib... |
OMIM:611819 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Right bundle branch block, Tetralogy of Fallot, Atrial septal defect, Abnormal heart morphology, ... |
OMIM:614954 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Cardiac arrest, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left ventricular noncomp... |
OMIM:612158 |
| Cardiomyopathy, Dilated, 2H |
|
Reduced left ventricular ejection fraction, Secundum atrial septal defect, Muscular ventricular s... |
OMIM:620203 |
| Cardiomyopathy, Dilated, 1V |
|
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Syncope, First degree a... |
OMIM:613697 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Right bundle branch block, Atrial septal defect, Arrhythmia, Imperforate tricuspid valve, Atrial ... |
ORPHA:1880 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Situs inversus totalis, Atrial situs ambiguous, Wolff-Parkinson-White syndrome, Atrial septal def... |
ORPHA:216694 |
| Atrioventricular Dissociation |
|
Congenital atrioventricular dissociation |
OMIM:209600 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Ventricular tachycardia, Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Sudden car... |
OMIM:610193 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
ST segment elevation, Cardiomyocyte hypertrophy, Ventricular tachycardia, Shoulder girdle muscle ... |
ORPHA:263297 |
| Progressive Familial Heart Block, Type Ii |
|
Syncope, Sudden cardiac death, Complete heart block with narrow QRS complexes, Sinus bradycardia,... |
OMIM:140400 |
| Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, Palpitations, First degree atrioventricular block, Permanent atri... |
OMIM:617280 |
| Cardiomyopathy, Dilated, 2E |
|
Death in childhood, Death in infancy, Reduced systolic function, Ebstein anomaly of the tricuspid... |
OMIM:619492 |
| Familial Dilated Cardiomyopathy |
|
Left ventricular systolic dysfunction, Mitral regurgitation, Reduced left ventricular ejection fr... |
ORPHA:217607 |
| Isolated Right Ventricular Hypoplasia |
|
Systolic heart murmur, Atrial septal defect, Right ventricular failure, Abnormal atrioventricular... |
ORPHA:439 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular hypertrophy, Left ventricular noncompaction, Sudden cardiac death, Congestive he... |
OMIM:601493 |
| Cardiomyopathy, Dilated, 1G |
|
Ventricular tachycardia, Reduced left ventricular ejection fraction, Premature atrial contraction... |
OMIM:604145 |
| Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Hypertension, Paroxysmal atrial fibrillation, Prolonged PR interval |
OMIM:615378 |
| Tricuspid Atresia |
|
Pulmonary artery atresia, Hypoplasia of right ventricle, Coarctation of aorta, Ventricular septal... |
ORPHA:1209 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Cardiac arrest, Reduced left ventricular ejection fraction, Myopathy, Syncope, First degree atrio... |
OMIM:115197 |
| Coronary Arterial Fistula |
|
Abnormal EKG, Pulmonary arterial hypertension, Systolic heart murmur, Bacterial endocarditis, Atr... |
ORPHA:2041 |
| Cardiomyopathy, Dilated, 2D |
|
Interstitial cardiac fibrosis, Pulmonary arterial hypertension, Mitral regurgitation, Reduced lef... |
OMIM:619371 |
| Atrial Septal Defect 9 |
|
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve |
OMIM:614475 |
| Incessant Infant Ventricular Tachycardia |
|
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Wolff-Parkinson-White syndrome, L... |
ORPHA:45453 |
| Atrial Fibrillation, Familial, 10 |
|
Paroxysmal atrial fibrillation, Left atrial enlargement, Left ventricular hypertrophy, Tricuspid ... |
OMIM:614022 |
| Brugada Syndrome |
|
Cardiac arrest, ST segment elevation, Syncope, Supraventricular tachycardia, Trifascicular block,... |
ORPHA:130 |
| Atrial Fibrillation, Familial, 7 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Palpitations, Premature atrial contractio... |
OMIM:612240 |
| Cardiac Conduction Defect |
|
Syncope, Arrhythmia |
OMIM:115080 |
| Cardiomyopathy, Dilated, 1E |
|
Reduced left ventricular ejection fraction, Syncope, Palpitations, Supraventricular tachycardia, ... |
OMIM:601154 |
| Ebstein Anomaly |
|
Atrial septal defect, Atrial standstill, Atrial fibrillation, Sudden cardiac death, Ebstein anoma... |
OMIM:224700 |
| Ventricular Septal Defect 1 |
|
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Atrioventricular canal defect,... |
OMIM:614429 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Right bundle branch block, Pulmonary arterial hypertension, Systolic heart murmur, Automatic atri... |
ORPHA:99105 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Left bundle branch block, Ventricular tachycardia, Right ventricular dilatation, First degree atr... |
OMIM:615616 |
| Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Syncope, Arrhythmia, Atrioventricular block, Shortened PR interva... |
OMIM:604559 |
| Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation... |
OMIM:604169 |
| 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 |
| Atrial Septal Defect, Ostium Primum Type |
|
Tricuspid regurgitation, Atrial fibrillation, Pulmonary artery dilatation, Recurrent respiratory ... |
ORPHA:99106 |
| Cardiomyopathy, Dilated, 1Bb |
|
Severely reduced left ventricular ejection fraction, Left bundle branch block, Congestive heart f... |
OMIM:612877 |
| Cardiomyopathy, Dilated, 1S |
|
Interstitial cardiac fibrosis, Pulmonary arterial hypertension, Ventricular tachycardia, Mitral r... |
OMIM:613426 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Asymmetric septal hypertrophy, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Syncope, Pa... |
OMIM:600858 |
| Atrial Standstill |
|
Reduced left ventricular ejection fraction, Cardiomyopathy, Abnormal heart morphology, Sick sinus... |
ORPHA:1344 |
| Sick Sinus Syndrome 4 |
|
Paroxysmal atrial fibrillation, Syncope, Sinoatrial block, Abnormal QT interval, Sinus bradycardi... |
OMIM:619464 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia, Patent foramen ovale |
OMIM:617182 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Coronary artery calcification, Mitral regurgitation, Reduced left ventricular ejection fraction, ... |
OMIM:614473 |
| Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Pulmonary arterial hypertension, Syncope, Palpitations, Elevated jugular venous pressure, Tricusp... |
ORPHA:422 |
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Reduced left ventricular ejection fraction, Distal lower limb muscle weakness, Achilles tendon co... |
OMIM:181350 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
| Brugada Syndrome 9 |
|
ST segment elevation, Palpitations, Prolonged QT interval, Presyncope |
OMIM:616399 |
| Ventricular Tachycardia, Familial |
|
Cardiomyopathy, Right bundle branch block, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Mitral regurgitation, Left atrial enlargement, Pulmonic stenosis, Sick sinus syndrome, Bicuspid a... |
OMIM:616201 |
| Long Qt Syndrome 16 |
|
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Perimembranous ve... |
OMIM:618782 |
| Cardiomyopathy, Dilated, 1Oo |
|
Reduced left ventricular ejection fraction, Atrial septal defect, Second degree atrioventricular ... |
OMIM:620247 |
| Heart-Hand Syndrome, Slovenian Type |
|
Abnormal electrophysiology of sinoatrial node origin, Arrhythmia, Supraventricular arrhythmia, Di... |
ORPHA:168796 |
| Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Cardiomyopathy, Muscular dystrophy |
OMIM:309930 |
| Cardiac Valvular Dysplasia 2 |
|
Left ventricular diastolic dysfunction, Pulmonary artery dilatation, Systolic heart murmur, Pulmo... |
OMIM:620067 |
| Nathalie Syndrome |
|
Abnormal EKG, Skeletal muscle atrophy |
OMIM:255990 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Myopathy, Absent P wave, Palpitations, Knee flexion contracture, Decreased cervical spine flexion... |
OMIM:310300 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Interstitial cardiac fibrosis, Stroke, Recurrent respiratory infections, Mitral regurgitation, Le... |
ORPHA:75249 |
| Aortic Valve Disease 2 |
|
Coarctation of aorta, Mitral regurgitation, Pulmonic stenosis, Aortic aneurysm, Calcification of ... |
OMIM:614823 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Abnormal mitral valve morphology, Tricuspid regurgitation, Transient ischemic attack, Supraventri... |
ORPHA:99103 |
| Familial Progressive Cardiac Conduction Defect |
|
Heart block, Syncope, Arrhythmia, Bundle branch block, Congestive heart failure |
ORPHA:871 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Anomalous origin of the left common carotid artery from the main pulmonary artery, Stroke, Pulmon... |
ORPHA:99104 |
| Sick Sinus Syndrome 1 |
|
Absent P wave, Sick sinus syndrome, Sinus bradycardia, Atrioventricular block, Prolonged QT inter... |
OMIM:608567 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Left atrial enlargement, Left ventricular hypertrophy, Reduced left ventricular e... |
OMIM:608751 |
| Diamond-Blackfan Anemia 16 |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:617408 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 9 |
|
Cardiomyocyte mitochondrial proliferation, Hypertrophic cardiomyopathy |
OMIM:616500 |
| Peripartum Cardiomyopathy |
|
Myocarditis, Reduced left ventricular ejection fraction, Abnormal atrioventricular valve morpholo... |
ORPHA:563 |
| Cirrhotic Cardiomyopathy |
|
Left ventricular diastolic dysfunction, Third heart sound, Global systolic dysfunction, Reduced l... |
ORPHA:57777 |
| Congenital Gerbode Defect |
|
Elevated right atrial pressure, Pulmonary arterial hypertension, Systolic heart murmur, Pulmonic ... |
ORPHA:99095 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Ventricular tachycardia, Left ventricular hypertrophy, Left ventricular outflow tract obstruction... |
OMIM:613251 |
| Long Qt Syndrome 14 |
|
Cardiac arrest, Prolonged QTc interval, T-wave alternans, Ventricular fibrillation, 2:1 atriovent... |
OMIM:616247 |
| Lymphoid Interstitial Pneumonia |
|
Aortic valve stenosis, Cor pulmonale |
OMIM:247610 |
| Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia, Syncope, Abnormal QRS complex, Increased heart rate variability |
OMIM:614896 |
| Cardiomyopathy, Dilated, 1Y |
|
Ventricular tachycardia, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Ebs... |
OMIM:611878 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |
| Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect |
OMIM:615981 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Minicore myopathy, Myopathy, Calf muscle hypertrophy, Arrhythmia, Severely reduced left ventricul... |
OMIM:611705 |
| Cardiomyopathy, Dilated, 1A |
|
Second degree atrioventricular block, First degree atrioventricular block, Sudden cardiac death, ... |
OMIM:115200 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Asymmetric septal hypertrophy, Ventricular tachycardia, Left ventricular hypertrophy, Palpitation... |
OMIM:608758 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Syncope, Palpitations, Sudden cardiac death, Ventricular arrhyt... |
OMIM:610476 |
| Loeffler Endocarditis |
|
Left ventricular diastolic dysfunction, Right bundle branch block, Mitral regurgitation, Left atr... |
ORPHA:75566 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
| Brugada Syndrome 7 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Atrial flutter, Prolonged P wave, Permanent... |
OMIM:613120 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Syncope, T-wave... |
OMIM:611528 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect |
OMIM:212090 |
| Bundle Branch Block, Familial Isolated Complete Right |
|
Right bundle branch block |
OMIM:113950 |
| Right Atrial Isomerism |
|
Situs inversus totalis, Pulmonary artery atresia, Dextrocardia, Pulmonic stenosis, Ventricular se... |
OMIM:208530 |
| Cardiomyopathy, Familial Hypertrophic, 3 |
|
Sudden cardiac death, Hypertrophic cardiomyopathy |
OMIM:115196 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Palpitations, S... |
OMIM:604400 |
| Aneurysm Of Interventricular Septum |
|
Vascular dilatation, Abnormal ventricular septum morphology |
OMIM:105805 |
| Sick Sinus Syndrome 2 |
|
Prolonged QTc interval, Cardiac arrest, Paroxysmal atrial fibrillation, Left ventricular hypertro... |
OMIM:163800 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Paroxysmal atrial fibrillation, Abnormal jugular vein morphology, Reduced left ventricular ejecti... |
ORPHA:1677 |
| Williams-Beuren Syndrome (WBS) |
|
Aortic valve stenosis |
DECIPHER:3 |
| Cardiomyopathy, Dilated, 2G |
|
Increased Z-disc width, Mitral regurgitation, Monomorphic ventricular tachycardia, Left atrial en... |
OMIM:619897 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Left atrial enlargement, Biv... |
OMIM:619424 |
| Partial Atrioventricular Septal Defect |
|
Hypoplastic left heart, Bacterial endocarditis, Tetralogy of Fallot, Transient ischemic attack, A... |
ORPHA:1330 |
| Myopathy, Myofibrillar, 1 |
|
EMG: myopathic abnormalities, Facial palsy, Restrictive cardiomyopathy, Dilated cardiomyopathy, H... |
OMIM:601419 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Asymmetric septal hypertrophy, Ventricular tachycardia, Reduced left ventricular ejection fractio... |
OMIM:613838 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Cardiac arrest, Left anterior fascicular block, Ventricular tachycardia, Left ventricular hypertr... |
OMIM:612098 |
| Cardiomyopathy, Dilated, 1R |
|
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left vent... |
OMIM:613424 |
| Aortic Valve Disease 1 |
|
Ventricular septal defect, Mitral atresia, Tetralogy of Fallot, Bicuspid aortic valve, Double out... |
OMIM:109730 |
| Brugada Syndrome 6 |
|
Cardiac arrest, ST segment elevation, Ventricular fibrillation |
OMIM:613119 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus |
ORPHA:228190 |
| Ethanolaminosis |
|
Cardiomegaly, Death in infancy |
OMIM:227150 |
| Familial Short Qt Syndrome |
|
Syncope, Palpitations, Shortened QT interval, Sudden cardiac death, Atrioventricular block, Ventr... |
ORPHA:51083 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Arrhythmia, Sick sinus syndrome, Prolonged PR interval, Patent foramen ovale, Bradycardia, Ventri... |
ORPHA:542306 |
| Brugada Syndrome 8 |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block |
OMIM:613123 |
| Wolff-Parkinson-White Syndrome |
|
Ventricular preexcitation with multiple accessory pathways, Prolonged QRS complex, Wolff-Parkinso... |
OMIM:194200 |
| Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Leg muscle stiffness, Intrinsic hand muscle atrophy, Wrist drop, Heart block, Cardiomyopathy, Pro... |
ORPHA:98912 |
| Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Arrhythmia, Sudden cardiac death |
OMIM:212500 |
| Attrv30M Amyloidosis |
|
Arrhythmia, Cardiomyopathy, Cardiomegaly, Atrioventricular block |
ORPHA:85447 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Pulmonary artery dilatation, Pulmonary arterial hypertension, Atrial septal defect, Thoracic aort... |
OMIM:613834 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Cardiac arrest, Ventricular tachycardia, Fibrofatty replacement of right ventricular myocardium, ... |
OMIM:609040 |
| Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Reduced left ventricular ejection fraction, Pulmonary venous hypertension,... |
ORPHA:75565 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Muscular dystrophy, Skeletal muscle hypertrophy, Right bundle branch block |
OMIM:613158 |
| Long Qt Syndrome 15 |
|
Cardiac arrest, Prolonged QTc interval, Left ventricular noncompaction, Syncope, Ventricular bige... |
OMIM:616249 |
| Heart Block, Congenital |
|
Mitral regurgitation, Cardiomyopathy, Atrioventricular block, Myocardial fibrosis, Absent atriove... |
OMIM:234700 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Stroke, Descending aortic dissection, Posterior cerebral artery stenosis, Thoracic aortic aneurys... |
OMIM:132900 |
| Congenital Aortic Valve Stenosis |
|
Abnormal T-wave, Endocarditis, Left ventricular hypertrophy, Dysplastic aortic valve, Thoracic ao... |
ORPHA:3093 |
| Congenital Myopathy 24 |
|
Type 1 muscle fiber predominance, Cardiomyopathy, Nemaline bodies, First degree atrioventricular ... |
OMIM:617336 |
| Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Atrial septal defect, Ventricular septal defect, Left ventri... |
ORPHA:860 |
| Supravalvular Aortic Stenosis |
|
Arrhythmia, Supravalvular aortic stenosis |
ORPHA:3193 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure, Subvalvular aortic stenosis |
OMIM:192600 |
| Cardiomyopathy, Familial Hypertrophic, 2 |
|
Reduced left ventricular ejection fraction, Atrial fibrillation, Angina pectoris, Hypertrophic ca... |
OMIM:115195 |
| Attrv122I Amyloidosis |
|
Abnormal EKG, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Arrhythmi... |
ORPHA:85451 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Reduced muscle fiber alpha dystroglycan, Proximal amyotrophy, Left ventricular systolic dysfuncti... |
ORPHA:206559 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Bicuspid aortic valve, Aortic valve stenosis |
OMIM:615599 |
| Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Angina pectoris, Bradycardia, Atrial fibrillation, Mitral regurgitation, ... |
ORPHA:66529 |
| Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies |
|
Asymmetric septal hypertrophy, Cardiomyocyte hypertrophy, Mitral regurgitation, Increased myocard... |
OMIM:620236 |
| Ventricular Septal Defect 3 |
|
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect |
OMIM:614432 |
| Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG, Lower limb muscle weakness, Cardiomyopathy, Lower limb hypertonia, Generalized amyo... |
ORPHA:1177 |
| Brugada Syndrome 1 |
|
Cardiac arrest, Syncope, Supraventricular tachycardia with an accessory connection mediated pathw... |
OMIM:601144 |
| Atrial Septal Defect 8 |
|
Anomalous pulmonary venous return, Atrial septal defect |
OMIM:614433 |
| Scapuloperoneal Myopathy, X-Linked Dominant |
|
Lower limb muscle weakness, Forearm supination contracture, Skeletal muscle atrophy, Knee flexion... |
OMIM:300695 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Left ventricular systolic dysfunction, Mitral regurgitati... |
OMIM:615373 |
| Pfeiffer-Palm-Teller Syndrome |
|
Aortic valve stenosis |
ORPHA:2871 |
| Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Abnormal tricuspid valve morphology |
ORPHA:1208 |
| Left Ventricular Noncompaction 2 |
|
Left ventricular noncompaction cardiomyopathy |
OMIM:609470 |
| Desminopathy |
|
Concentric hypertrophic cardiomyopathy, Distal lower limb muscle weakness, Weakness of facial mus... |
ORPHA:98909 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Cardiac arrest, Prolonged QTc interval, Left anterior fascicular block, Atrial fibrillation, Paro... |
OMIM:616117 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Ventricular septal defect, Atrioventricular canal defect, Left ventricula... |
ORPHA:3092 |
| Cardiomyopathy, Familial Hypertrophic, 9 |
|
Hypertrophic cardiomyopathy |
OMIM:613765 |
| Heart-Hand Syndrome, Spanish Type |
|
Sick sinus syndrome |
OMIM:140450 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Reduced left ventricular ejection fraction, Arrhythmia, Supraventricular tachycardi... |
ORPHA:45452 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
OMIM:604381 |
| Cardiac Lipidosis, Familial |
|
Cardiomyopathy, Death in infancy, Congestive heart failure |
OMIM:212080 |
| Atrial Septal Defect 2 |
|
Dextrocardia, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect, Atrial septal d... |
OMIM:607941 |
| Cardiomyopathy, Dilated, 1P |
|
Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia |
OMIM:609909 |
| Timothy Syndrome |
|
Pulmonary arterial hypertension, Ventricular tachycardia, Tetralogy of Fallot, Ventricular septal... |
OMIM:601005 |
| Cardiomyopathy, Dilated, 1M |
|
Reduced left ventricular ejection fraction, Impaired myocardial contractility, Congestive heart f... |
OMIM:607482 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Macroglossia, ST segment elevation, Prolonged QRS complex, Hypotension, Increased myocardial glyc... |
OMIM:261740 |
| Cardiomyopathy, Dilated, 1I |
|
Reduced left ventricular ejection fraction, Reduced systolic function, Congestive heart failure, ... |
OMIM:604765 |
| Ataxia, Deafness, And Cardiomyopathy |
|
Cardiomyopathy |
OMIM:208750 |
| Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot |
OMIM:125520 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Prolonged QTc interval, Cerebral hemorrhage, Left ventricular hypertrophy, Syncope, Ischemic stro... |
ORPHA:90065 |
| Congenital Tricuspid Valve Dysplasia |
|
Systolic heart murmur, Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse, Tri... |
ORPHA:555874 |
| Danon Disease |
|
Ventricular tachycardia, Lower limb amyotrophy, Wolff-Parkinson-White syndrome, Syncope, Severely... |
OMIM:300257 |
| Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect |
ORPHA:3449 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Pulmonary arterial hypertension, Abnormal T-wave, Right ventricular failure, Syncope, Palpitation... |
ORPHA:70591 |
| Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Hepatomegaly, Complete atrioventricular canal defect, Cyanosis, Ab... |
ORPHA:1329 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating alanine aminotransferase concentration, Death in infancy, Elevated circulati... |
OMIM:615395 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Muscle fiber hyaline bodies, Proximal amyotrophy, Fourth heart sound, Right axis deviation, Calf ... |
OMIM:255160 |
| Myopathy, Myofibrillar, 3 |
|
Distal amyotrophy, Cardiomyopathy, Myofibrillar myopathy, Achilles tendon contracture, Muscle fib... |
OMIM:609200 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Hypertrophic cardiomyopathy |
ORPHA:79281 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Hypoplastic left heart, Enlarged kidney, Atrial septal defect, Ventricular septal defect, Atriove... |
OMIM:306955 |
| 8p23.1 deletion syndrome |
|
Atrioventricular canal defect, Abnormal heart morphology, Atrial septal defect |
DECIPHER:39 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Coarctation of aorta, Ventricular septal defect, Patent foramen ovale, Patent ductus arteriosus, ... |
OMIM:610338 |
| Distal Myopathy With Posterior Leg And Anterior Hand Involvement |
|
Proximal muscle weakness in lower limbs, Intrinsic hand muscle atrophy, Distal lower limb muscle ... |
ORPHA:63273 |
| Combined Oxidative Phosphorylation Deficiency 44 |
|
Hypertrophic cardiomyopathy |
OMIM:618855 |
| Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal mitral valve morphology, Death in infan... |
ORPHA:1354 |
| Cardiomyopathy, Familial Hypertrophic, 15 |
|
Cardiomyocyte hypertrophy, Pulmonary arterial hypertension, Apical hypertrophic cardiomyopathy, L... |
OMIM:613255 |
| Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin |
OMIM:609438 |
| Epilepsy, Early-Onset, With Or Without Developmental Delay |
|
Patent foramen ovale |
OMIM:618832 |
| Nathalie Syndrome |
|
Arrhythmia |
ORPHA:2663 |
| Glycogen Storage Disease 0, Muscle |
|
Stroke, Left atrial enlargement, Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle g... |
OMIM:611556 |
| Cardiac Valvular Dysplasia, X-Linked |
|
Short chordae tendineae of the mitral valve, Mitral regurgitation, Aortic regurgitation, Tricuspi... |
OMIM:314400 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Tricuspid regurgitation, Right ventricular dilatation, Wolff-Parkinson-White syndrome, Hypertroph... |
OMIM:619705 |
| Aorta Coarctation |
|
Stroke, Pulmonary arterial hypertension, Hypoplastic left heart, Coarctation of the descending ao... |
ORPHA:1457 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Bicuspid aortic valve, Atrial septal defect |
OMIM:617744 |
| Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Aortic valve stenosis, Aortic regurgitation, Aortic valve calcification |
OMIM:114065 |
| Cardiomyopathy, Dilated, 2A |
|
Cardiomyocyte hypertrophy, Myofiber disarray, Congestive heart failure, Increased left ventricula... |
OMIM:611880 |
| Sick Sinus Syndrome 3, Susceptibility To |
|
Sick sinus syndrome |
OMIM:614090 |
| Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:178370 |
| Atrial Fibrillation, Familial, 11 |
|
Prolonged QRS complex, Prolonged P wave, Atrial fibrillation, Reduced left ventricular ejection f... |
OMIM:614049 |
| Cardiomyopathy, Dilated, 1D |
|
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Left ventricular noncom... |
OMIM:601494 |
| Cardiac Diverticulum |
|
Abnormality of the diaphragm, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallo... |
ORPHA:1686 |
| Cardiomyopathy, Familial Hypertrophic, 28 |
|
Asymmetric septal hypertrophy, Stroke, Concentric hypertrophic cardiomyopathy, Left atrial enlarg... |
OMIM:619402 |
| 46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect |
OMIM:618901 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiac arrest, Left ventricular diastolic dysfunction, Cardiomyocyte hypertrophy, Concentric hyp... |
OMIM:618052 |
| Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Congestive heart failure, Dilated cardiomyopathy, Ventricular ... |
OMIM:600884 |
| Polyvalvular Heart Disease Syndrome |
|
Pulmonic stenosis, Arrhythmia, Abnormal heart valve morphology, Tricuspid regurgitation, Aortic v... |
ORPHA:228410 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Anomalous origin of left coronary artery from the pulmonary artery, Hypoplastic left heart, Doubl... |
OMIM:618845 |
| Long Qt Syndrome 9 |
|
Cardiac arrest, Syncope, Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Ventricular a... |
OMIM:611818 |
| White Forelock With Malformations |
|
Prominent veins on trunk, Atrial septal defect |
OMIM:277740 |
| Cardiomyopathy, Dilated, 1Ff |
|
Death in middle age, Severely reduced left ventricular ejection fraction, Congestive heart failur... |
OMIM:613286 |
| Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Hypoplastic left heart, Atrial septal defect, Ventricular septal ... |
ORPHA:392 |
| D-2-Hydroxyglutaric Aciduria 2 |
|
Cardiomyopathy |
OMIM:613657 |
| Kearns-Sayre Syndrome |
|
Third degree atrioventricular block, Skeletal muscle atrophy, Ragged-red muscle fibers |
ORPHA:480 |
| Asplenia, Isolated Congenital |
|
Howell-Jolly bodies, Asplenia, Thrombocytosis |
OMIM:271400 |
| Atrial Septal Defect 5 |
|
Secundum atrial septal defect |
OMIM:612794 |
| Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
| Adams-Oliver Syndrome 5 |
|
Pulmonary arterial hypertension, Pulmonic stenosis, Right atrial enlargement, Right ventricular h... |
OMIM:616028 |
| Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Cardiomyopathy, Hepatomegaly |
OMIM:609016 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Patent ductus arteriosus, Pulmonic stenosis, Ventricular septal defect |
OMIM:249670 |
| Atrial Septal Defect 6 |
|
Bradycardia, Atrial fibrillation, Atrial septal defect |
OMIM:613087 |
| Neonatal Lupus Erythematosus |
|
Cutaneous photosensitivity, Abnormal electrophysiology of sinoatrial node origin, Heart block, Ar... |
ORPHA:398124 |
| Distal 7Q11.23 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrial septal defect |
ORPHA:254351 |
| Nephronophthisis 16 |
|
Situs inversus totalis, Pulmonic stenosis, Aortic valve stenosis, Patent ductus arteriosus, Hyper... |
OMIM:615382 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, Hypotension, Cardiomyopathy, Hepatomegal... |
OMIM:212138 |
| Cardiomyopathy, Familial Restrictive, 1 |
|
Restrictive cardiomyopathy, Sudden cardiac death, Left atrial enlargement, Left ventricular hyper... |
OMIM:115210 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Syncope, Palpitations, Second degree atrioventricular block, Muscular dystrophy, Skeletal muscle ... |
OMIM:616812 |
| Cardiomyopathy, Dilated, 1L |
|
Reduced left ventricular ejection fraction, Sudden cardiac death, Reduced systolic function, Cong... |
OMIM:606685 |
| Weill-Marchesani Syndrome 3 |
|
Aortic valve stenosis, Pulmonic stenosis |
OMIM:614819 |
| Familial Bicuspid Aortic Valve |
|
Heart murmur, Coarctation of aorta, Hypoplastic left heart, Aortic arch aneurysm, Hypertension, A... |
ORPHA:402075 |
| Cardiomyopathy, Dilated, 1W |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... |
OMIM:611407 |
| Cardiomyopathy, Dilated, 1Cc |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... |
OMIM:613122 |
| Long Qt Syndrome 2 |
|
Cardiac arrest, Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventri... |
OMIM:613688 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Secundum atrial septal defect, Pulmonary artery atresia, Coarctation of aorta, Pulmonic stenosis,... |
OMIM:613854 |
| Criss-Cross Heart |
|
Pulmonic stenosis, Ventricular septal defect, Abnormal mitral valve morphology, Supravalvular aor... |
ORPHA:1461 |
| Distal Myopathy, Welander Type |
|
Intrinsic hand muscle atrophy, Myopathy, Cardiomyopathy, EMG: myopathic abnormalities, Distal upp... |
ORPHA:603 |
| Myopathy, Distal, 4 |
|
Abnormality of the calf musculature, Distal lower limb amyotrophy, Thenar muscle weakness, Myopat... |
OMIM:614065 |
| Cardiac Valvular Dysplasia 1 |
|
Double inlet left ventricle, Atrial septal defect, Ventricular septal defect, Tricuspid regurgita... |
OMIM:212093 |
| Laubry-Pezzi Syndrome |
|
Dilatation of the sinus of Valsalva, Right ventricular outlet tract obstruction, Abnormal coronar... |
ORPHA:99094 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Pulmonary artery atresia, Dextrocardia, Coarctation of aorta, Double inlet left ventricle, Atrial... |
OMIM:270100 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia |
OMIM:619170 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Restrictive cardiomyopathy, Endocardial fibroelastosis, Pericardial effusion, Right atrial enlarg... |
OMIM:619313 |
| Pulmonary Atresia With Intact Ventricular Septum |
|
Pulmonary artery atresia, Hypoplastic right heart |
OMIM:265150 |
| Pulmonary Hypertension, Primary, 4 |
|
Pulmonary arterial hypertension, First degree atrioventricular block, Elevated pulmonary artery p... |
OMIM:615344 |
| Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Mitral regurgitation, Aortic regurgitation, Tricuspid regurgitation, Pulmonary insufficiency, Rig... |
ORPHA:555877 |
| Atrial Fibrillation, Familial, 6 |
|
Reduced left ventricular ejection fraction, Elevated left ventricular end-diastolic diameter, Lef... |
OMIM:612201 |
| Cardiogenic Shock |
|
Cardiac arrest, Abnormal EKG, ST segment elevation, Mitral regurgitation, Hypotension, Elevated j... |
ORPHA:97292 |
| Gne Myopathy |
|
Lower limb amyotrophy, Shoulder girdle muscle weakness, Hip flexor weakness, Lower limb muscle we... |
ORPHA:602 |
| Congenital Myopathy 11 |
|
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect |
OMIM:619967 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval |
OMIM:220400 |
| Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Arrhythmia, Cardiomyopathy, Hamstring contractures, Knee flexion contracture, Muscu... |
OMIM:310200 |
| Cardiomyopathy, Dilated, 1J |
|
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... |
OMIM:605362 |
| Cardiomyopathy, Dilated, 1Dd |
|
Congestive heart failure, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden c... |
OMIM:613172 |
| Recessive Mitochondrial Ataxia Syndrome |
|
ST segment elevation |
ORPHA:94125 |
| Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Supraventricular arrhythmia, Cardiomyopathy, Leg muscle stiffness, Distal lower limb muscle weakness |
ORPHA:320360 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
| Absence Of The Pulmonary Artery |
|
Reduced left ventricular ejection fraction, Atrial septal defect, Tetralogy of Fallot, Right aort... |
ORPHA:980 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis, Myopathy, Low-output congestive heart failure, Hypertrophic cardiomyopathy |
ORPHA:91130 |
| Scimitar Syndrome |
|
Hypoplastic left heart, Ventricular septal defect, Tetralogy of Fallot, Atrial septal defect, Lef... |
ORPHA:185 |
| Myofibrillar Myopathy 10 |
|
Prolonged QTc interval, Left ventricular hypertrophy, Knee flexion contracture, EMG: myopathic ab... |
OMIM:619040 |
| Pericardial And Diaphragmatic Defect |
|
Tetralogy of Fallot, Atrial septal defect, Palpitations, Abnormal heart morphology, Bicuspid aort... |
ORPHA:2847 |
| Sinus Node Disease And Myopia |
|
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin |
OMIM:182190 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Left ventricular hypertrophy, Myofiber disarray, Hypertrophic cardiomyopathy, Mitral valve prolap... |
OMIM:614676 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber splitting, Type 1 muscle fiber predominance, Muscular dystrophy, Skeletal muscle atr... |
OMIM:253700 |
| Naxos Disease |
|
Prolonged QRS complex, Abnormal morphology of right ventricular trabeculae, Right ventricular car... |
OMIM:601214 |
| Long Qt Syndrome 11 |
|
Prolonged QTc interval, Syncope |
OMIM:611820 |
| Lessel-Kreienkamp Syndrome |
|
Pulmonic stenosis, Atrial septal defect, Bicuspid aortic valve, Patent foramen ovale, Patent duct... |
OMIM:619149 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Death in childhood, Reduced left ventricular ejection fraction, Death in infancy, Neonatal death,... |
OMIM:614096 |
| Cardiomyopathy, Dilated, 1Gg |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:613642 |
| Hypoplastic Left Heart Syndrome 2 |
|
Mitral atresia, Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect |
OMIM:614435 |
| Left Ventricular Noncompaction 10 |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:615396 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Arrhythmia, Pulmonary embolism, Hypertension, Abnormal heart valve morphology, Congestive heart f... |
ORPHA:1345 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Proximal muscle weakness in lower limbs, Reduced left ventricular ejection fraction... |
ORPHA:268 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Arrhythmia, Hamstring contractures, Skeletal muscle atrophy, Skeletal muscle hypertrophy, EMG: my... |
OMIM:300696 |
| Down Syndrome |
|
Macroglossia, Atrial septal defect, Tetralogy of Fallot, Atrioventricular canal defect, Ventricul... |
OMIM:190685 |
| Aortic Aneurysm, Familial Thoracic 12 |
|
Aortic root aneurysm, Aortic regurgitation, Bicuspid aortic valve, Ascending tubular aorta aneury... |
OMIM:619825 |
| Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Stillbirth, Pericardial effusion, Pleural effusion, Ge... |
OMIM:618773 |
| Combined Oxidative Phosphorylation Deficiency 23 |
|
Arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy |
OMIM:616198 |
| Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Stroke, Bicuspid aortic valve, Cerebral hemorrhage |
OMIM:300049 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Exercise-induced rhabdomyolysis, Ventricular tachycardia, Jaundice, Tachycardia, Atrial septal de... |
ORPHA:26793 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Pulmonary arterial hypertension, Left ventricular hypertrophy, Ventricular septal defect, Hyperte... |
OMIM:615474 |
| Atrial Fibrillation, Familial, 9 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Syncope, Palpitations, Permanent atrial f... |
OMIM:613980 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Atr... |
OMIM:265380 |
| Cardiomyopathy, Dilated, 1Jj |
|
Dilated cardiomyopathy, Reduced left ventricular ejection fraction |
OMIM:615235 |
| Nephrosialidosis |
|
Pericardial effusion, Ascites |
OMIM:256150 |
| Li-Campeau Syndrome |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619189 |
| Atrial Fibrillation, Familial, 15 |
|
Left atrial enlargement, Supraventricular tachycardia, Sudden cardiac death, Atrial flutter, Atri... |
OMIM:615770 |
| Aortic Arch Interruption |
|
Ventricular septal defect, Left ventricular outflow tract obstruction, Abnormal heart morphology,... |
ORPHA:2299 |
| Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Atrial septal defect, Tricuspid regurgitation, Patent foramen ovale, P... |
OMIM:618652 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Bicuspid aortic valve |
ORPHA:397951 |
| Cardiomyopathy, Familial Hypertrophic, 7 |
|
Wolff-Parkinson-White syndrome, Apical hypertrophic cardiomyopathy, Ventricular hypertrophy, Hype... |
OMIM:613690 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, Myopathy, Absent muscle fiber emerin, Decreased cervical... |
ORPHA:98855 |
| Stiff Skin Syndrome |
|
Bicuspid aortic valve |
OMIM:184900 |
| Cardiomyopathy, Dilated, 1Ee |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:613252 |
| Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
| Obsolete: Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Distal lower limb muscle weakness, Hand muscle weakness, Increased endomysial connective tissue, ... |
ORPHA:437572 |
| Sneddon Syndrome |
|
Stroke, Cerebral hemorrhage, Ischemic stroke, Hypertension, Bicuspid aortic valve |
OMIM:182410 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Proximal amyotrophy, Myopathy, Arrhythmia, Cardiomyopathy, Muscular dystrophy, Scapular winging, ... |
OMIM:612999 |
| Nestor-Guillermo Progeria Syndrome |
|
Pulmonary arterial hypertension, Mitral regurgitation, Left atrial enlargement, Sinus tachycardia... |
OMIM:614008 |
| Romano-Ward Syndrome |
|
Prolonged QTc interval, Abnormal T-wave, Torsade de pointes, Syncope, Sudden cardiac death, Sinus... |
ORPHA:101016 |
| Scheie Syndrome |
|
Aortic valve stenosis, Aortic regurgitation |
OMIM:607016 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Secundum atrial septal defect, Mitral regurgitation, Atrial septal defect, Ventricular septal def... |
OMIM:620066 |
| Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, Myopathy, Absent muscle fiber emerin, Decreased cervical... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, Myopathy, Absent muscle fiber emerin, Decreased cervical... |
ORPHA:98853 |
| Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Paroxysmal atrial fibrillation, Shortened PR interval, Permanent a... |
OMIM:108950 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Atrial septal defect |
OMIM:614868 |
| Ritscher-Schinzel Syndrome 1 |
|
Hypoplastic left heart, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Ventricular... |
OMIM:220210 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Coarctation of aorta, Atrial septal defect, Atrioventricular canal defect, Tricuspid regurgitatio... |
ORPHA:1120 |
| Long Qt Syndrome 6 |
|
Cardiac arrest, Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventri... |
OMIM:613693 |
| Cardiomyopathy, Dilated, 1Kk |
|
Mitral regurgitation, Left ventricular hypertrophy, Congestive heart failure, Dilated cardiomyopa... |
OMIM:615248 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Dysplastic tricuspid valve, Dysplastic pulmonary valve, Atrial septal defect, Tricuspid regurgita... |
OMIM:612863 |
| Atrial Standstill 2 |
|
Atrial cardiomyopathy, Palpitations, Atrial standstill, Cardiomyopathy, Absent P wave, Bradycardi... |
OMIM:615745 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Ventricular tachycardia, Paroxysmal atrial fibrillation, Sudden cardiac death, Reduced left ventr... |
OMIM:612124 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Calf muscle hypertrophy, Cardiomyopathy, EMG: myopathic abnormalities, Scapular winging, Increase... |
OMIM:608099 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Vascular dilatation, Aortic valve stenosis, Patent ductus arteriosus |
OMIM:220220 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in lower limbs, Distal lower limb muscle weakness, Cardiomyopathy, Scapu... |
OMIM:301075 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Autophagic vacuoles, Hypertrophic cardiomyopathy |
OMIM:609500 |
| Singleton-Merten Syndrome 2 |
|
Arrhythmia, Aortic valve stenosis, Aortic valve calcification |
OMIM:616298 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Arrhythmia, Camptodactyly |
OMIM:618453 |
| Muscular Dystrophy, Progressive Pectorodorsal |
|
Arrhythmia, Muscular dystrophy, Shoulder girdle muscle weakness, Scapular winging |
OMIM:310095 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, Myopathy, Absent muscle fiber emerin, Decreased cervical... |
ORPHA:98863 |
| Primary Effusion Lymphoma |
|
Pleural effusion, Pericardial effusion |
ORPHA:48686 |
| Intellectual Developmental Disorder, Autosomal Recessive 47 |
|
Mitral valve prolapse |
OMIM:616193 |
| Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Ventricular septal defect |
OMIM:253300 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Camptodactyly, Mitral regurgitation, Restrictive cardiomyopathy, Patent foramen ovale, Flexion co... |
ORPHA:88630 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Coarctation of aorta, Ventricular septal defect, Atrial septal defect, Hypertension, Bicuspid aor... |
ORPHA:371428 |
| Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Left ventricular hypertrophy |
OMIM:607487 |
| Congenital Alveolar Capillary Dysplasia |
|
Pulmonary arterial hypertension, Hypoplastic left heart, Atrial septal defect, Tetralogy of Fallo... |
ORPHA:210122 |
| Glycogen Storage Disease Ii |
|
Subarachnoid hemorrhage, Macroglossia, Wolff-Parkinson-White syndrome, Right axis deviation, Sinu... |
OMIM:232300 |
| Choanal Atresia And Lymphedema |
|
Lymphedema, Pericardial effusion |
OMIM:613611 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Death in childhood, Cardiomyopathy |
OMIM:619651 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Intrauterine growth retardation, Pericardial effusion, Oligohydramnios, Hypertrophic cardiomyopat... |
OMIM:614702 |
| Atrial Fibrillation, Familial, 3 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Syncope, Sudden cardiac death, Permanent ... |
OMIM:607554 |
| Brugada Syndrome 3 |
|
Syncope, Shortened QT interval, Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation... |
OMIM:611875 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Cardiomyopathy, Fatty replacement of skeletal muscle, Supraventricular tachycardia, Myopathy |
OMIM:255100 |
| Distal Nebulin Myopathy |
|
Sternocleidomastoid amyotrophy, Weakness of facial musculature, Cardiomyopathy, EMG: myopathic ab... |
ORPHA:399103 |
| Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Distal amyotrophy, Cardiomyopathy |
OMIM:610100 |
| Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
| Cardiomyopathy, Dilated, 1Z |
|
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death |
OMIM:611879 |
| Wild Type Attr Amyloidosis |
|
Abnormal EKG, Arrhythmia, Myocardial infarction, Congestive heart failure, Orthostatic hypotensio... |
ORPHA:330001 |
| Hypoplastic Left Heart Syndrome |
|
Hypoplastic left heart, Atrial septal defect, Mitral atresia, Hypoplastic aortic arch, Patent duc... |
ORPHA:2248 |
| Long Qt Syndrome 1 |
|
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventricular fibrillati... |
OMIM:192500 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Cardiac arrest, Ventricular tachycardia, Syncope, Palpitations, Bidirectional ventricular tachyca... |
OMIM:614021 |
| Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Transposition of the great arteries, Right aortic arch, Ventricula... |
OMIM:231060 |
| Double Outlet Right Ventricle |
|
Pulmonary artery atresia, Coarctation of aorta, Hypoplastic left heart, Pulmonic stenosis, Tetral... |
ORPHA:3426 |
| Cardiomyopathy, Dilated, 2C |
|
Death in childhood, Pulmonary arterial hypertension, Reduced left ventricular ejection fraction, ... |
OMIM:618189 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Secundum atrial septal defect, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Cardi... |
OMIM:616866 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of left pulmonary artery from ascending aorta, Hypoplastic left heart, Right aor... |
ORPHA:99050 |
| Dohle Bodies And Leukemia |
|
Secundum atrial septal defect |
OMIM:223350 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Macroglossia, Left ventricular hypertrophy, Left ventricular outflow tract obstruction, Low-outpu... |
ORPHA:308552 |
| Cardiomyopathy, Dilated, 1Hh |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy |
OMIM:613881 |
| Retinitis Pigmentosa 89 |
|
Bicuspid aortic valve |
OMIM:618955 |
| Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Heart block, Premature ventricular contraction, Bacterial endocarditis |
ORPHA:1964 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
| Microphthalmia, Syndromic 9 |
|
Pulmonary artery atresia, Coarctation of aorta, Hypoplastic spleen, Pulmonic stenosis, Atrial sep... |
OMIM:601186 |
| Sensorineural Deafness With Dilated Cardiomyopathy |
|
Abnormal cardiac ventricular function, Congestive heart failure, Dilated cardiomyopathy |
ORPHA:217622 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Pulmonic stenosis, Arrhythmia, Paroxysmal supraventricular tachycardia, Perimembranous ventricula... |
OMIM:617877 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Camptodactyly, Atrial septal defect, Perimembranous ventricular septal defect, Abnormal heart mor... |
ORPHA:363444 |
| Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Cardiac arrest, Syncope, Polymorphic ventricular tachycardia, Premature ventricular contraction, ... |
OMIM:615441 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Torsade de pointes, Syncope, Sudden cardiac death, Premature ventricular contraction, Prolonged Q... |
OMIM:612347 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Cardiomyopathy |
OMIM:619647 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Pulmonary arterial hypertension, Ventricular septal defect, Second degree atrioventricular block,... |
OMIM:617021 |
| Familial Atrial Myxoma |
|
Jaundice, Bacterial endocarditis, Pulmonic valve myxoma, Tricuspid regurgitation, Dilatation of t... |
ORPHA:615 |
| Supravalvular Aortic Stenosis |
|
Pulmonary artery stenosis, Supravalvular aortic stenosis, Pulmonic stenosis, Peripheral arterial ... |
OMIM:185500 |
| Birk-Aharoni Syndrome |
|
Muscular ventricular septal defect |
OMIM:620071 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Situs inversus totalis, Pulmonary artery atresia, Dextrocardia, Hypoplasia of right ventricle, Ri... |
OMIM:616749 |
| Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Muscular ventricular septal defect, Dilated cardiomyopathy, Genera... |
ORPHA:66634 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Pulmonary artery atresia, Congenitally corrected transposition of the great arteries with ventric... |
OMIM:617205 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Situs inversus totalis, Hypoplastic left heart, Right aortic arch, Ventricular septal defect, Atr... |
OMIM:619702 |
| Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Pulmonary arterial hypertension, Arterial intimal fibrosis, Hyper... |
OMIM:178600 |
| Congenital Myopathy 8 |
|
Type 1 muscle fiber predominance, Weakness of facial musculature, Muscle fiber atrophy, Congestiv... |
OMIM:618654 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Jaundice, Elevated circulating aspartate aminotransferase concentration, Ventricular septal defec... |
OMIM:614876 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Muscular ventricular septal defect |
OMIM:620062 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Atrioventricular canal defect, Pulmonary artery atresia, Dextrocardia, Right aortic arch with mir... |
OMIM:606217 |
| Recombinant Chromosome 8 Syndrome |
|
Camptodactyly, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Ventricular septal d... |
OMIM:179613 |
| Mitral Valve Prolapse 3 |
|
Mitral valve prolapse |
OMIM:610840 |
| Mitral Valve Prolapse 2 |
|
Mitral valve prolapse |
OMIM:607829 |
| Snijders Blok-Campeau Syndrome |
|
Perimembranous ventricular septal defect, Pulmonic stenosis, Atrial septal defect |
OMIM:618205 |
| Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy |
ORPHA:34587 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Pulmonary arterial hypertension, Pleural effusion, Atelectasis, Recurrent lower respiratory tract... |
OMIM:620233 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Systolic heart murmur, Right aortic arch, Atrial septal defect, Tetralogy of Fallot, Ventricular ... |
OMIM:617478 |
| Schuurs-Hoeijmakers Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac septum morphology, Patent foramen ovale, Patent ductus ar... |
OMIM:615009 |
| Cardiomyopathy, Familial Hypertrophic, 20 |
|
Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left ventricular ejection fraction, Lef... |
OMIM:613876 |
| Craniosynostosis 1 |
|
Aortic valve stenosis, Systolic heart murmur |
OMIM:123100 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypoplastic left heart, Ventricular septal defect, Patent ductus arteriosus, Hypertrophic cardiom... |
OMIM:616276 |
| Distal Myotilinopathy |
|
Abnormal muscle fiber myotilin, Distal amyotrophy, Cardiomyopathy, EMG: myopathic abnormalities, ... |
ORPHA:98911 |
| Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Asymmetric septal hypertrophy, Myopathy |
OMIM:212130 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Overriding aorta, Double outlet rig... |
ORPHA:3304 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Ventricular tachycardia, Left ventricular hypertrophy, Palpitations, Angina pectoris, Hypertrophi... |
OMIM:613873 |
| Developmental And Epileptic Encephalopathy 35 |
|
Cardiomyopathy, Death in infancy |
OMIM:616647 |
| Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Ebstein anomaly of the tricuspid valve |
OMIM:608980 |
| Mucolipidosis Iii Gamma |
|
Aortic valve stenosis, Aortic regurgitation |
OMIM:252605 |
| Cardiomyopathy, Dilated, 3B |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Increased variability in... |
OMIM:302045 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiac arrest, Stroke, Ventricular septal defect, Atrial septal defect, Congestive heart failure... |
ORPHA:49827 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
First degree atrioventricular block, Bundle branch block, Patent ductus arteriosus, Abnormal card... |
ORPHA:589821 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Mitral regurgitation, Tricuspid regurgitation, Aortic valve stenosis, Congestive heart failure, A... |
ORPHA:324410 |
| Craniofaciofrontodigital Syndrome |
|
Stroke, Abnormal cerebral vascular morphology, Pulmonary arterial hypertension, Coarctation of ao... |
ORPHA:363705 |
| Cardiomyopathy, Dilated, 1X |
|
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Incr... |
OMIM:611615 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Pulmonary hypoplasia, Skeletal muscl... |
OMIM:616867 |
| Intellectual Developmental Disorder, X-Linked 106 |
|
Bicuspid aortic valve |
OMIM:300997 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Aspiration pneumonia, Left ventricular systolic dysfunction, Mitral regurgitation, Left ventricul... |
OMIM:619167 |
| Mungan Syndrome |
|
Perimembranous ventricular septal defect, Pulmonic stenosis, Tricuspid regurgitation |
OMIM:611376 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Proximal muscle weakness in lower limbs, Wolff-Parkinson-White syndrome, Distal lower limb muscle... |
OMIM:619566 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect |
OMIM:614262 |
| Propionic Acidemia |
|
Arrhythmia, Cardiomyopathy |
ORPHA:35 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Atrial septal defect, Left ventricular hypertrophy, Abnormal left ventricle morphology, Ventricul... |
ORPHA:466791 |
| Dextrocardia |
|
Situs inversus totalis, Abnormal EKG, Dextrocardia, Congenital malformation of the great arteries... |
ORPHA:1666 |
| Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615297 |
| Leber Hereditary Optic Neuropathy |
|
Retinal telangiectasia, Arrhythmia, Ventricular preexcitation, Myopathy |
ORPHA:104 |
| Histiocytoid Cardiomyopathy |
|
Right bundle branch block, Ventricular tachycardia, Wolff-Parkinson-White syndrome, Ventricular s... |
ORPHA:137675 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... |
OMIM:613759 |
| Combined Oxidative Phosphorylation Deficiency 17 |
|
Death in childhood, Death in infancy, Congestive heart failure, Hypertrophic cardiomyopathy |
OMIM:615440 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Mitral stenosis, Aortic valve stenosis, Hypoplastic left heart, Atrial septal defect |
OMIM:617660 |
| 3-Methylglutaconic Aciduria, Type V |
|
Noncompaction cardiomyopathy, Atrial septal defect, Sudden cardiac death, Congestive heart failur... |
OMIM:610198 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Muscular dystrophy, Cardiomyopathy, Skeletal muscle atrophy, EMG: myopathic abnormalities, Fatty ... |
OMIM:608807 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Camptodactyly, Hepatomegaly, Perimembranous ventricular septal defect, Death in infancy, Neonatal... |
OMIM:608104 |
| 3-Methylglutaconic Aciduria, Type Iv |
|
Subvalvular aortic stenosis, Biventricular hypertrophy |
OMIM:250951 |
| Truncus Arteriosus |
|
Right aortic arch, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Abnormal... |
ORPHA:3384 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Intrinsic hand muscle atrophy, Cardiomyopathy, EMG: myopathic abnormalities, Fatty replacement of... |
ORPHA:399086 |
| Acitretin/Etretinate Embryopathy |
|
Conotruncal defect, Atrioventricular canal defect, Third degree atrioventricular block, Bradycardia |
ORPHA:40366 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Myopathy, Arrhythmia, Hypertension,... |
OMIM:540000 |
| Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Pulmonic stenosis, Hepatomegaly, Chylopericardium, Tricuspid reg... |
ORPHA:2414 |
| Developmental And Epileptic Encephalopathy 101 |
|
Bradycardia, Third degree atrioventricular block, Limb joint contracture |
OMIM:619814 |
| Aortic Aneurysm, Familial Thoracic 10 |
|
Fusiform ascending tubular aorta aneurysm, Mitral regurgitation, Aortic root aneurysm, Left ventr... |
OMIM:617168 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Premature ventricular contraction, Sudden cardiac death |
OMIM:604401 |
| Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Atrial septal defect |
OMIM:113301 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Muscular dystrophy, Cardiomyopathy, Hypoglycosylation of alpha-dystroglycan, Calf muscle hypertro... |
OMIM:609308 |
| Chromosome 5Q12 Deletion Syndrome |
|
Macroglossia, Hypotension, Atrial septal defect, Ventricular septal defect, Patent foramen ovale,... |
OMIM:615668 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Syncope, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation |
OMIM:600919 |
| Hsd10 Disease, Neonatal Type |
|
Abnormal circulating enzyme concentration or activity, Hypertrophic cardiomyopathy |
ORPHA:391457 |
| Dystonia 23 |
|
Arrhythmia, Torticollis |
OMIM:614860 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Camptodactyly, Mitral regurgitation, Patent foramen ovale, Mitral valve prolapse, Facial hypotonia |
OMIM:615539 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Patent foramen ovale, Hypertrophic cardiomyopathy |
OMIM:614582 |
| Cardiomyopathy, Familial Hypertrophic, 18 |
|
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial fibrillation, Left ventricula... |
OMIM:613874 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Camptodactyly, Wolff-Parkinson-White syndrome, Pulmonic stenosis, Atrial septal defect, Ventricul... |
OMIM:619343 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Coarctation of aorta, Pulmonic stenosis, Ventricular septal defect, Abnormal heart morphology, Ve... |
ORPHA:284169 |
| Von Willebrand Disease, Type 1 |
|
Joint hemorrhage, Aortic valve stenosis, Gastrointestinal hemorrhage, Gastrointestinal angiodyspl... |
OMIM:193400 |
| Paternal Uniparental Disomy Of Chromosome 5 |
|
Secundum atrial septal defect |
ORPHA:96190 |
| Endocardial Fibroelastosis |
|
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis |
ORPHA:2022 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Atrial septal defect, Aortic aneurysm, Ventricular septal defect, Abnormal heart morphology, Over... |
ORPHA:477817 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Situs inversus totalis, Dextrocardia, Hypoplastic left heart, Right aortic arch, Total anomalous ... |
OMIM:614779 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Pulmonary arterial hypertension, Ventricular septal defect, Intracranial hemorrhage, Hypertension... |
ORPHA:369929 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Cardiomyopathy, Global systolic dysfunction, Nemaline bodies, Limb muscle weakness |
OMIM:606842 |
| Atrioventricular Septal Defect 4 |
|
Primum atrial septal defect |
OMIM:614430 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Death in infancy, Bradycardia, Ventricular septal defect |
OMIM:616277 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Proximal amyotrophy, Shoulder girdle muscle atrophy, Muscular dystrophy, Scapular winging, Pelvic... |
OMIM:604286 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Restrictive cardiomyopathy, Hepatomegaly, Endocardial fibrosis, Splenomegaly |
OMIM:607685 |
| Scorpion Envenomation |
|
Myocarditis, Rhabdomyolysis, Arrhythmia, Hypertension, Prominent U wave, Premature ventricular co... |
ORPHA:466677 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Pulmonary artery atresia, Right aortic arch, Pulmonic stenosis, Tetralogy of Fallot, Absence of t... |
OMIM:618780 |
| Neutral Lipid Storage Disease With Myopathy |
|
Myopathy, Cardiomyopathy, Hepatomegaly, Elevated hepatic transaminase, Increased muscle lipid con... |
OMIM:610717 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Death in early adulthood, Cardiomyocyte hypertrophy, Ventricular tachycardia, Death in adolescenc... |
OMIM:605676 |
| Familial Aortic Dissection |
|
Stroke, Descending aortic dissection, Aortic root aneurysm, Ascending aortic dissection, Mucoid e... |
ORPHA:229 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Ventricular septal defect, Abnormal heart morphology, Bicuspid aortic valve, Patent foramen ovale... |
ORPHA:500159 |
| Friedreich Ataxia |
|
Abnormal EKG, Congestive heart failure, Hypertrophic cardiomyopathy |
OMIM:229300 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Ventricular septal defect, Hypertension, Shortened PR interval, V... |
OMIM:614947 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Secundum atrial septal defect, Jaundice, Elevated circulating aspartate aminotransferase concentr... |
OMIM:608779 |
| Sudden Cardiac Failure, Infantile |
|
Myocarditis, Bradycardia, Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyop... |
OMIM:617222 |
| Sandestig-Stefanova Syndrome |
|
Muscular ventricular septal defect, Camptodactyly, Perimembranous ventricular septal defect |
OMIM:618804 |
| Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Death in infancy, Neonatal death, Hypertrophic cardiomyopathy |
OMIM:617184 |
| Cardiac-Urogenital Syndrome |
|
Dysplastic tricuspid valve, Mesocardia, Dextrocardia, Hypoplastic left heart, Tachycardia, Atrial... |
OMIM:618280 |
| Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Polymorphic and polytopic ventricular extrasystoles, Left ventricular noncompaction cardiomyopath... |
OMIM:115000 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Autophagic vacuoles, Facial diplegia, Cardiomyopathy, EMG: myopathic abnormalities, Muscle fiber ... |
ORPHA:399058 |
| Naxos Disease |
|
Arrhythmia, Cardiomyopathy, Sudden cardiac death, Congestive heart failure, Paroxysmal ventricula... |
ORPHA:34217 |
| Long Qt Syndrome 5 |
|
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Sinus bradycardia, Ven... |
OMIM:613695 |
| Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities |
|
Muscular ventricular septal defect, Atrial septal defect |
OMIM:618354 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Secundum atrial septal defect, Coarctation of aorta, Atrial septal defect, Ventricular septal def... |
OMIM:600987 |
| Barth Syndrome |
|
Endocardial fibroelastosis, Dilated cardiomyopathy |
ORPHA:111 |
| Maternally-Inherited Diabetes And Deafness |
|
Arrhythmia, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy |
ORPHA:225 |
| Tibial Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, Peroneal muscle atrophy, Myopathy, Cardiomyopathy, EMG: ... |
ORPHA:609 |
| Conotruncal Heart Malformations |
|
Coarctation of aorta, Complete atrioventricular canal defect, Double outlet right ventricle, Trun... |
OMIM:217095 |
| Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Fiber type grouping, Distal lower limb muscle weakness, Premature graying of hair, Thenar muscle ... |
OMIM:619903 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bicuspid aortic valve |
OMIM:619318 |
| Noonan Syndrome 3 |
|
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Bruising susceptibility, Tric... |
OMIM:609942 |
| Familial Cutaneous Collagenoma |
|
Cardiomyopathy, Angina pectoris, Congestive heart failure, Atrial septal defect |
ORPHA:53296 |
| Aapoaiv Amyloidosis |
|
Left ventricular outflow tract obstruction, Cardiac amyloidosis, Hypertension, Supravalvular aort... |
ORPHA:439232 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Stroke, Mucoid extracellular matrix accumulation, Descending thoracic aorta aneurysm, Transient i... |
ORPHA:91387 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Severely reduced left ventricular e... |
ORPHA:444013 |
| Short Qt Syndrome 1 |
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