Congenitally Uncorrected Transposition Of The Great Arteries |
|
Left ventricular outflow tract obstruction, Abnormal aortic arch morphology, Biventricular hypert... |
ORPHA:860 |
Aorta Coarctation |
|
Patent ductus arteriosus, Pulmonary arterial hypertension, Aortic valve atresia, Perimembranous v... |
ORPHA:1457 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Left ventricular outflow tract obstruction, Hypoplastic pulmonary ... |
OMIM:613854 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Aortic rupture, Aortic aneurysm, Ascending aortic dissection, Descending aortic dissection |
OMIM:613780 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Familial Aortic Dissection |
|
Aortic root aneurysm, Patent ductus arteriosus, Exertional dyspnea, Descending aortic dissection,... |
ORPHA:229 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Ascending tubular aorta aneurysm, Moyamoya phenomenon, Descending aortic dissection, Aortic aneur... |
OMIM:611788 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Transposition of the great arteries, Right aortic arch, Ventricula... |
OMIM:231060 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Moyamoya Disease 5 |
|
Ascending tubular aorta aneurysm, Moyamoya phenomenon |
OMIM:614042 |
Conotruncal Heart Malformations |
|
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Complete atrioventricula... |
OMIM:217095 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Patent ductus arteriosus, Carotid artery stenosis, Ascending tubular aorta aneurysm, Posterior ce... |
OMIM:132900 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect, T-wave al... |
OMIM:618782 |
Aorto-Ventricular Tunnel |
|
Aortic root aneurysm, Ventricular hypertrophy, Abnormal aortic morphology, Heart murmur, Congesti... |
ORPHA:3400 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Systolic heart murmur, Webbed neck, Truncus arteriosus, Ventricular septal defect, Death in infan... |
OMIM:617478 |
Cleft-Limb-Heart Malformation Syndrome |
|
Truncus arteriosus |
OMIM:215850 |
Congenital Heart Defects, Multiple Types, 2 |
|
Subvalvular aortic stenosis, Left ventricular outflow tract obstruction, Myxomatous mitral valve ... |
OMIM:614980 |
Aortic Aneurysm, Familial Abdominal, 1 |
|
Abdominal aortic aneurysm |
OMIM:100070 |
Cardiomyopathy, Dilated, 1Ff |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Increased left ven... |
OMIM:613286 |
Cardiomyopathy, Dilated, 1M |
|
Impaired myocardial contractility, Reduced left ventricular ejection fraction, Congestive heart f... |
OMIM:607482 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... |
OMIM:615436 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... |
OMIM:617912 |
Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Vascular dilatation, Ventricular arrhythmia, Congestive heart ... |
OMIM:600884 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of left pulmonary artery from ascending aorta, Patent ductus arteriosus, Left ve... |
ORPHA:99050 |
Left Ventricular Noncompaction 1 |
|
Patent ductus arteriosus, Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia... |
OMIM:604169 |
Cardiac Lipidosis, Familial |
|
Cardiomyopathy, Congestive heart failure, Death in infancy |
OMIM:212080 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Hydranencephaly, Webbed neck, Truncus arteriosus, Ventricular septal defect |
OMIM:601355 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia... |
OMIM:618780 |
Cardiomyopathy, Dilated, 2A |
|
Myofiber disarray, Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular e... |
OMIM:611880 |
Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Ventricular septal defect, Common atrium, Transposition of the gre... |
OMIM:613751 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection |
OMIM:617349 |
Aortic Arch Interruption |
|
Pedal edema, Systolic heart murmur, Left ventricular outflow tract obstruction, Aortopulmonary wi... |
ORPHA:2299 |
Congenital Heart Defects, Multiple Types, 4 |
|
Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... |
OMIM:615779 |
Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Hypoplastic left heart, ... |
OMIM:614779 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Pulmonary arterial hypertension, Myofiber disarray, Apical hypertrophic cardiomyopathy, Left vent... |
OMIM:613255 |
Truncus Arteriosus |
|
Truncus arteriosus, Tachycardia, Pulmonary artery stenosis, Ventricular septal defect, Interrupte... |
ORPHA:3384 |
Heterotaxy, Visceral, 7, Autosomal |
|
Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Common atrium,... |
OMIM:616749 |
Factor V Excess With Spontaneous Thrombosis |
|
Pulmonary embolism, Peripheral arterial stenosis |
OMIM:134400 |
Distal 7Q11.23 Microduplication Syndrome |
|
Patent ductus arteriosus, Aortic aneurysm, Frontal encephalocele |
ORPHA:261102 |
Scimitar Syndrome |
|
Truncus arteriosus, Heart block, Abnormal vena cava morphology, Double outlet right ventricle, Ve... |
ORPHA:185 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... |
OMIM:613424 |
Cardiomyopathy, Dilated, 1L |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Incre... |
OMIM:606685 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Aortic aneur... |
OMIM:612422 |
Periventricular Nodular Heterotopia |
|
Patent ductus arteriosus, Aortic regurgitation, Aortic aneurysm, Abnormal bleeding |
ORPHA:98892 |
Congenital Gerbode Defect |
|
Pedal edema, Systolic heart murmur, Palpitations, Peripheral edema, Elevated right atrial pressur... |
ORPHA:99095 |
Ciliary Dyskinesia, Primary, 40 |
|
Patent ductus arteriosus, Congenitally corrected transposition of the great arteries, Atrioventri... |
OMIM:618300 |
Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... |
OMIM:617205 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Aortic tortuosity, Atrial fibrillation, Ascending aortic dissection, Thoracic aortic aneurysm |
OMIM:616166 |
Partial Atrioventricular Septal Defect |
|
Angina pectoris, Palpitations, Atrial arrhythmia, Double outlet right ventricle, Partial atrioven... |
ORPHA:1330 |
Cardiomyopathy, Dilated, 1S |
|
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:613426 |
Cardiomyopathy, Dilated, 1Ee |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:613252 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect |
OMIM:212090 |
Ventricular Septal Defect 1 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... |
OMIM:614429 |
Absence Of The Pulmonary Artery |
|
Pedal edema, Systolic heart murmur, Truncus arteriosus, Abnormal cardiac septum morphology, Abnor... |
ORPHA:980 |
Heterotaxy, Visceral, 12, Autosomal |
|
Double outlet right ventricle, Patent foramen ovale, Ventricular septal defect, Left superior ven... |
OMIM:619702 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Patent ductus arteriosus, Pulmonary arterial hypertension, Common carotid artery aneurysm, Aortic... |
OMIM:613834 |
Cardiomyopathy, Dilated, 1I |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congestive heart failure, Red... |
OMIM:604765 |
Coronary Arterial Fistula |
|
Pedal edema, Systolic heart murmur, Angina pectoris, Abnormal left ventricular function, Palpitat... |
ORPHA:2041 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Abnormal aortic morphology, Webbed neck, Truncus arteriosus, Ventricular septal defect, Short neck |
ORPHA:2516 |
Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Systolic heart murmur, Ascending tubular aorta aneurysm, Left vent... |
ORPHA:3092 |
Autosomal Dominant Coarctation Of Aorta |
|
Patent ductus arteriosus, Aortic arch aneurysm, Ventricular septal defect, Abnormal aortic arch m... |
ORPHA:1455 |
Cardiomyopathy, Dilated, 1Dd |
|
Sudden cardiac death, Left ventricular systolic dysfunction, Congestive heart failure, Dilated ca... |
OMIM:613172 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Patent ductus arteriosus, Double outlet right ventricle, Death in infancy, Bicuspid aortic valve,... |
OMIM:618845 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Patent ductus arteriosus, Hydrops fetalis, Ventricular septal defect, Vascular ring, Lymphedema, ... |
OMIM:601927 |
Tricuspid Atresia |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Hypo... |
ORPHA:1209 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Congestive heart fail... |
OMIM:601493 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Dilated cardiomyopathy, Congestive heart failure, Edema, Ventricular tachycardia, Death in early ... |
OMIM:605676 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Truncus arteriosus |
OMIM:611867 |
Cardiomyopathy, Dilated, 1J |
|
Sudden cardiac death, Abnormal left ventricular function, Congestive heart failure, Dilated cardi... |
OMIM:605362 |
Cardiomyopathy, Dilated, 1P |
|
Ventricular arrhythmia, Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy |
OMIM:609909 |
Adams-Oliver Syndrome 6 |
|
Hepatic fibrosis, Ventricular septal defect, Truncus arteriosus, Portal hypertension, Splenomegal... |
OMIM:616589 |
Mass Syndrome |
|
Aortic aneurysm, Ascending aortic dissection |
OMIM:604308 |
Fibromuscular Dysplasia, Arterial |
|
Arterial fibromuscular dysplasia, Intermittent claudication, Myocardial infarction, Renovascular ... |
OMIM:135580 |
Aortic Valve Disease 2 |
|
Aortic tortuosity, Calcification of the aorta, Aortic aneurysm, Ascending aortic dissection, Coar... |
OMIM:614823 |
Cardiomyopathy, Dilated, 1Hh |
|
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume |
OMIM:613881 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Familial Cerebral Saccular Aneurysm |
|
Aortic root aneurysm, Transient ischemic attack, Atherosclerosis, Intracranial hemorrhage, Abnorm... |
ORPHA:231160 |
Familial Atrial Myxoma |
|
Pedal edema, Vascular dilatation, Bacterial endocarditis, Heart murmur, Pulmonic valve myxoma, Co... |
ORPHA:615 |
Cardiomyopathy, Dilated, 1U |
|
Severely reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Conge... |
OMIM:613694 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Asplenia, Hepatic fibrosis, Truncus arteriosus, Malformation of the hepatic ductal plate, Hypertr... |
OMIM:615415 |
Isolated Polycystic Liver Disease |
|
Respiratory insufficiency, Vascular dilatation, Polycystic liver disease, Gastrointestinal hemorr... |
ORPHA:2924 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Heart murmur, Coarc... |
ORPHA:3426 |
Meacham Syndrome |
|
Patent ductus arteriosus, Neonatal death, Death in childhood, Cardiac total anomalous pulmonary v... |
OMIM:608978 |
Takayasu Arteritis |
|
Pulmonary arterial hypertension, Ascending tubular aorta aneurysm, Vascular dilatation, Cerebral ... |
ORPHA:3287 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Pneumothorax, Ischemic stroke, Mucoid extracellular matrix accumulation, Ascending aortic dissect... |
ORPHA:91387 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Atrial septal defect, Abnormal heart morphology, P... |
ORPHA:401935 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... |
OMIM:613251 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Perimembranous ventricular septal defect, Atrial septal defect, Oligohydramnios, Hypertrophic car... |
OMIM:620135 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Aneurysm Of Interventricular Septum |
|
Vascular dilatation |
OMIM:105805 |
Heparin-Induced Thrombocytopenia |
|
Pulmonary embolism, Cerebral ischemia, Myocardial infarction, Stroke, Abnormal onset of bleeding |
ORPHA:3325 |
Sensorineural Deafness With Dilated Cardiomyopathy |
|
Abnormal cardiac ventricular function, Dilated cardiomyopathy, Congestive heart failure |
ORPHA:217622 |
Distal Trisomy 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:1705 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Bilateral superior vena cava with bridging vein, Wolff-Parkinson-White syndrome, Abnormal left ve... |
ORPHA:216694 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Elevated circulating alanine aminotransferase concentration, Ventricular septal defect, Portal in... |
OMIM:613759 |
Left Ventricular Noncompaction 10 |
|
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Incre... |
OMIM:615396 |
Cardiomyopathy, Dilated, 1Gg |
|
Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Dilated ... |
OMIM:613642 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Congestive heart failure, Left ve... |
OMIM:615373 |
Laubry-Pezzi Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Elevated pulmonary artery pressure, Ascending tub... |
ORPHA:99094 |
Telangiectasia, Hereditary Benign |
|
Vascular dilatation, Diffuse telangiectasia |
OMIM:187260 |
Aortic Aneurysm, Familial Thoracic 12 |
|
Aortic root aneurysm, Ascending tubular aorta aneurysm, Chronic pulmonary obstruction, Ascending ... |
OMIM:619825 |
Cardiomyopathy, Dilated, 1Kk |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Congestive heart failure, Increased left ve... |
OMIM:615248 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Endocardial fibroelastosis, Impaired myocardial contractility, Left ventricular diastolic dysfunc... |
OMIM:618052 |
Cardiomyopathy, Dilated, 1Z |
|
Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy |
OMIM:611879 |
Familial Dilated Cardiomyopathy |
|
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... |
ORPHA:217607 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Subvalvular aortic stenosis, Congestive heart failure, Asymmetric septal hypertrophy, Arrhythmia |
OMIM:192600 |
Cardiomyopathy, Dilated, 1Bb |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:612877 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
ORPHA:228190 |
Cardiomyopathy, Dilated, 1K |
|
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm |
OMIM:605582 |
Ciliary Dyskinesia, Primary, 37 |
|
Right aortic arch, Situs inversus totalis, Dextrocardia |
OMIM:617577 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... |
OMIM:115197 |
Atrial Septal Defect 2 |
|
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal... |
OMIM:607941 |
Igg4-Related Aortitis |
|
Ascending tubular aorta aneurysm, Asthma, Abnormal common carotid artery morphology, Dilated left... |
ORPHA:449400 |
Vein Of Galen Aneurysmal Malformation |
|
Vascular dilatation, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology |
ORPHA:1053 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Interrupted aortic arch, Hypoplastic left heart, Tetralogy of Fallot, ... |
ORPHA:1727 |
Cardiac Valvular Dysplasia 2 |
|
Systolic heart murmur, Ascending tubular aorta aneurysm, Left ventricular diastolic dysfunction, ... |
OMIM:620067 |
Temtamy Syndrome |
|
Aortic aneurysm |
ORPHA:1777 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Reduced left ventricular ejection fraction, Death in infancy, Congestive heart failure, Hypertrop... |
OMIM:614096 |
Klippel-Trénaunay Syndrome |
|
Patent ductus arteriosus, Pulmonary embolism, Hydrops fetalis, Abnormality of the pulmonary arter... |
ORPHA:90308 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... |
OMIM:608751 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Cardiomyopathy, Dilated, 1V |
|
Reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Congestive hea... |
OMIM:613697 |
Incessant Infant Ventricular Tachycardia |
|
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac rhabdomyoma, Cardiac arrest, W... |
ORPHA:45453 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Double outlet right ventricle, Pulmonary insufficiency, Heart murmur, Congestive heart failure, D... |
ORPHA:2326 |
Loeffler Endocarditis |
|
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Myocardial fibrosis, Pericard... |
ORPHA:75566 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Limb hypertonia, Perimembranous ventricular septal defect |
OMIM:619170 |
Atrial Septal Defect, Sinus Venosus Type |
|
Systolic heart murmur, Supraventricular arrhythmia, Premature atrial contractions, Palpitations, ... |
ORPHA:99105 |
Aortic Valve Disease 1 |
|
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Mitral stenosis, Bicusp... |
OMIM:109730 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Patent ductus arteriosus, Ventricular septal defect, Torticollis, Atrial septal defect, Pulmonic ... |
OMIM:249670 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Patent ductus arteriosus, Pedal edema, Ventricular septal defect, Peripheral arterial stenosis, V... |
OMIM:126320 |
Megabladder, Congenital |
|
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:618719 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Hypertrophic cardiomyopathy, Death in childhood, Congestive heart failure, Death in infancy |
OMIM:615440 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Patent ductus arteriosus, Perimembranous ventricular septal defect, Camptodactyly, Oligohydramnio... |
OMIM:608104 |
Ventricular Septal Defect 3 |
|
Patent ductus arteriosus, Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect |
OMIM:614432 |
Carvajal Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:65282 |
Hypoplastic Left Heart Syndrome |
|
Patent ductus arteriosus, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic left... |
ORPHA:2248 |
Congenital Heart Defects, Multiple Types, 3 |
|
Right bundle branch block, Atrial septal defect, Atrioventricular block, Atrioventricular dissoci... |
OMIM:614954 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Polyhydramnios, Atrioventricular canal defect, Nonimmune hydrops fetalis, Pulmonary artery dilata... |
OMIM:265380 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
OMIM:604381 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Cardiac Diverticulum |
|
Angina pectoris, Bicuspid pulmonary valve, Palpitations, Pulmonary artery stenosis, Endocarditis,... |
ORPHA:1686 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Arterial calcification, Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogeni... |
OMIM:614473 |
Heart Defects-Limb Shortening Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Death in infancy, Abnormality of the... |
ORPHA:1354 |
Ebstein Malformation Of The Tricuspid Valve |
|
Patent ductus arteriosus, Sudden cardiac death, Imperforate tricuspid valve, Right bundle branch ... |
ORPHA:1880 |
Skraban-Deardorff Syndrome |
|
Right aortic arch, Ventricular septal defect |
OMIM:617616 |
Congenital Aortic Valve Stenosis |
|
Sudden cardiac death, Abnormal T-wave, Increased QRS voltage, Exertional dyspnea, Reduced left ve... |
ORPHA:3093 |
Atrial Standstill |
|
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... |
ORPHA:1344 |
Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Hypertension, Arterial stenosis, Aortic regu... |
ORPHA:79094 |
Coarctation Of Aorta |
|
Coarctation of aorta |
OMIM:120000 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Decreased liver function, Hepatic fibrosis, Ventricular septal defect |
ORPHA:306550 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... |
OMIM:604400 |
Cardiomyopathy, Dilated, 2B |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e... |
OMIM:614672 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Hepatic arteriovenous malformation, Telangiectasia, Pulmonary arteriovenous malformation, Cerebra... |
OMIM:175050 |
Aortic Valve Disease 3 |
|
Aortic root aneurysm, Aortic valve stenosis, Ascending aortic dissection |
OMIM:618496 |
Microphthalmia, Syndromic 9 |
|
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Hypoplastic left atrium,... |
OMIM:601186 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Jaundice, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:614876 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... |
OMIM:612158 |
Morbid Obesity And Spermatogenic Failure |
|
Myocardial infarction, Premature coronary artery atherosclerosis, Congestive heart failure, Hyper... |
OMIM:615703 |
Rin2 Syndrome |
|
Umbilical hernia, Aortic aneurysm, Bruising susceptibility |
ORPHA:217335 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris... |
OMIM:612098 |
Heart And Brain Malformation Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Polyhydramnios |
OMIM:616920 |
Long Qt Syndrome 13 |
|
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... |
OMIM:613485 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Patent ductus arteriosus, Ventricular septal defect, Hypertension, Oligohydramnios, Arrhythmia |
OMIM:617021 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Ventricular septal defect, Hydrocephalus, Atrial septal defect, Hy... |
OMIM:220210 |
Isolated Right Ventricular Hypoplasia |
|
Bidirectional shunt, Systolic heart murmur, Right bundle branch block, Abnormal atrioventricular ... |
ORPHA:439 |
Recombinant Chromosome 8 Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Joint contrac... |
OMIM:179613 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Paroxysmal atrial tachycardia, Ventricular septal defect, Cardiac arrest, Congestive heart failur... |
ORPHA:49827 |
Vascular Hyalinosis |
|
Subarachnoid hemorrhage, Vascular dilatation, Hematochezia |
OMIM:277175 |
Peripartum Cardiomyopathy |
|
Pedal edema, Sinus tachycardia, Cardiogenic shock, Palpitations, Peripheral edema, Elevated jugul... |
ORPHA:563 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Coarctation of aorta |
OMIM:241550 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Patent ductus arteriosus, Patent foramen ovale, Truncus arteriosus, Ventricular septal defect, Pe... |
OMIM:600001 |
Idiopathic Pulmonary Arterial Hypertension |
|
Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Pedal edema, Heart murmur, S... |
ORPHA:275766 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythm... |
ORPHA:1345 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic root aneurysm, Abdominal aortic aneurysm, Aortic arch aneurysm, Mitral regurgitation, Coro... |
OMIM:617168 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... |
OMIM:617047 |
Stankiewicz-Isidor Syndrome |
|
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect |
OMIM:617516 |
Hydrops Fetalis, Nonimmune |
|
Nonimmune hydrops fetalis, Hydrops fetalis, Congestive heart failure |
OMIM:236750 |
Cardiomyopathy, Dilated, 1G |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... |
OMIM:604145 |
Sandhoff Disease |
|
Congestive heart failure, Cherry red spot of the macula |
ORPHA:796 |
Emanuel Syndrome |
|
Patent ductus arteriosus, Truncus arteriosus, Delayed eruption of primary teeth, Ventricular sept... |
OMIM:609029 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Interrupted aortic arch, Double aortic arch, Pulmonary artery atresia,... |
OMIM:192430 |
Phace Association |
|
Patent ductus arteriosus, Vascular dilatation, Anomalous branches of internal carotid artery, Aor... |
OMIM:606519 |
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Mitral regurgitation, Coarctation of abdominal aorta, Cardiomyopathy |
OMIM:226100 |
Non-Involuting Congenital Hemangioma |
|
Prominent superficial veins, Congestive heart failure, Peripheral arteriovenous fistula, Telangie... |
ORPHA:141179 |
Johnson Neuroectodermal Syndrome |
|
Patent ductus arteriosus, Right aortic arch, Ventricular septal defect |
OMIM:147770 |
Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Ventricular tachycardia, Congestive heart failure, Dilated car... |
OMIM:608569 |
Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
Acrocardiofacial Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Death in infancy, Mitral stenosis, Atrial septal d... |
ORPHA:2008 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Temtamy Syndrome |
|
Aortic regurgitation, Aortic aneurysm |
OMIM:218340 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Perimembranous ventricular septal defect, Paroxysmal supraventricular tachycardia, Spina bifida o... |
OMIM:617877 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... |
ORPHA:261243 |
Cardiac Valvular Dysplasia 1 |
|
Hypoplasia of right ventricle, Tricuspid regurgitation, Patent foramen ovale, Left aortic arch wi... |
OMIM:212093 |
Aneurysm Of Sinus Of Valsalva |
|
Bacterial endocarditis, Heart murmur, Congestive heart failure, Aortic regurgitation, Edema, Stro... |
ORPHA:1054 |
Endocardial Fibroelastosis |
|
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis |
ORPHA:2022 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial septal defect, Left ventr... |
OMIM:108900 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Neonatal death, Congestive heart failure |
OMIM:301021 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Respiratory insufficiency, Neonatal death, Coarctation of aorta |
OMIM:601612 |
Loeys-Dietz Syndrome 6 |
|
Abdominal aortic aneurysm, Vertebral artery aneurysm, Carotid artery dissection, Carotid artery d... |
OMIM:619656 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
Adams-Oliver Syndrome 4 |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, Umbilical hernia |
OMIM:615297 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Congestive heart failure, Hypertens... |
OMIM:540000 |
Attrv122I Amyloidosis |
|
Restrictive cardiomyopathy, Cardiomegaly, Reduced left ventricular ejection fraction, Abnormal EK... |
ORPHA:85451 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Cardiomyopathy, Congestive heart failure, Arrhythmia |
OMIM:616198 |
Gillespie Syndrome |
|
Truncus arteriosus |
OMIM:206700 |
Wyburn-Mason Syndrome |
|
Vascular dilatation, Cerebral hemorrhage, Abnormal cerebral vascular morphology, Arteriovenous ma... |
ORPHA:53719 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Patent ductus arteriosus, Perimembranous ventricular septal defect, Left-to-right shunt, Camptoda... |
ORPHA:363444 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Polyhydramnios, Abnormal aortic morphology, Hydrops fetalis, Ventricular septal defect, Abnormal ... |
ORPHA:3405 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Patent ductus arteriosus, Double outlet right ventricle, Unbalanced atrioventricular canal defect... |
OMIM:619657 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Carotid artery calcification, Cardiomegaly, Abdominal aortic calcification, Congestive heart fail... |
OMIM:208000 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallo... |
ORPHA:3304 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect, Umbilical hernia |
ORPHA:1918 |
Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect |
OMIM:122850 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Vascular dilatation |
OMIM:616430 |
Rapidly Involuting Congenital Hemangioma |
|
Prominent superficial veins, Congestive heart failure, Peripheral arteriovenous fistula, Telangie... |
ORPHA:141184 |
Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Hydrops fetalis, Chylopericardium, Congestive heart failure, Ple... |
ORPHA:2414 |
Sandestig-Stefanova Syndrome |
|
Muscular ventricular septal defect, Short neck, Camptodactyly, Perimembranous ventricular septal ... |
OMIM:618804 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Interrupted aortic arc... |
ORPHA:2255 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Myofiber disarray, Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric ... |
OMIM:600858 |
Arterial Tortuosity Syndrome |
|
Aortic root aneurysm, Vascular dilatation, Abnormal carotid artery morphology, Cardiac arrest, Ao... |
ORPHA:3342 |
Craniofaciofrontodigital Syndrome |
|
Polyhydramnios, Abnormal cerebral vascular morphology, Pericardial effusion, Persistent fetal cir... |
ORPHA:363705 |
Cardiomyopathy, Dilated, 2F |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:619747 |
Cardiac-Urogenital Syndrome |
|
Patent ductus arteriosus, Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlar... |
OMIM:618280 |
Fragile X Syndrome |
|
Ascending tubular aorta aneurysm, Sinusitis |
ORPHA:908 |
Atrial Standstill 2 |
|
Vascular dilatation, Dilatation of the ventricular cavity, Atrial standstill, Atrial cardiomyopat... |
OMIM:615745 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Ventricular septal defect, Perimembranous ventricular septal defect, Secundum atrial septal defec... |
OMIM:600987 |
Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Third degree atrioventricular block, Pericardial effusion, Ventricular arrh... |
OMIM:115200 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Congestive heart failure, Myocardial fibrosis, Hypertrophic cardiomyopathy,... |
OMIM:617222 |
Infantile Sialic Acid Storage Disease |
|
Hydrops fetalis, Hydrocephalus, Congestive heart failure, Cardiomegaly, Ascites, Death in childhood |
OMIM:269920 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Pericardial effusion, Ventr... |
ORPHA:300751 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventricular septal defect, Vascular ring, Hydrocephalus, Atrial septal defect, Mitral regurgitation |
OMIM:603387 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Tetralogy of Fallot, Atrial septal defect |
OMIM:601322 |
Eng-Strom Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology |
ORPHA:1937 |
Snijders Blok-Campeau Syndrome |
|
Umbilical hernia, Pulmonic stenosis, Atrial septal defect, Perimembranous ventricular septal defect |
OMIM:618205 |
Hb Bart'S Hydrops Fetalis |
|
Polyhydramnios, Hydrops fetalis, Hydrocephalus, Congestive heart failure, Oligohydramnios, Perica... |
ORPHA:163596 |
Atrial Septal Defect, Ostium Primum Type |
|
Systolic heart murmur, Pulmonary artery dilatation, Palpitations, Peripheral edema, Abnormal P wa... |
ORPHA:99106 |
Cardiomyopathy, Dilated, 1Nn |
|
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... |
OMIM:615916 |
Emanuel Syndrome |
|
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Delayed eruption of teet... |
ORPHA:96170 |
Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, C... |
OMIM:601494 |
Atrial Septal Defect 4 |
|
Patent foramen ovale, Atrial septal defect, Coarctation of aorta |
OMIM:611363 |
Capillary Malformation-Arteriovenous Malformation |
|
Telangiectasia, Cerebral ischemia, Lymphedema, Arteriovenous malformation, Cerebral arteriovenous... |
ORPHA:137667 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Patent ductus arteriosus, Ventricular septal defect, Hypoplastic left heart, Hypertrophic cardiom... |
OMIM:616276 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Vascular dilatation, Aortic aneurysm, Abnormal bleeding, Arterial dissection, Bruising susceptibi... |
ORPHA:1900 |
Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Polyhydramnios, Atrioventricular canal defect, Right atrial isomeris... |
OMIM:306955 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Vascular dilatation, Hepatomegaly |
OMIM:614859 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Cirrhotic Cardiomyopathy |
|
Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Third heart sound, Re... |
ORPHA:57777 |
Spinal Muscular Atrophy, Type I |
|
Spinal muscular atrophy, Ventricular septal defect, Atrial septal defect, Proximal amyotrophy, Pr... |
OMIM:253300 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Patent ductus arteriosus, Aortic valve stenosis, Vascular dilatation |
OMIM:220220 |
Indomethacin Embryofetopathy |
|
Hydrops fetalis, Ventricular septal defect, Atrial septal defect, Oligohydramnios, Cardiomyopathy |
ORPHA:1909 |
Osteogenesis Imperfecta, Type I |
|
Aortic aneurysm, Bruising susceptibility |
OMIM:166200 |
Giant Cell Arteritis |
|
Abdominal aortic aneurysm, Sudden cardiac death, Hepatic failure, Cerebral ischemia, Pericarditis... |
ORPHA:397 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Hydrocephalus, Congestive heart failure |
OMIM:300886 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Right bundle branch block, Sinus tachycardia, Elevated jugular venous press... |
OMIM:255160 |
Stuve-Wiedemann Syndrome 2 |
|
Pulmonary arterial hypertension, Congestive heart failure, Stillbirth, Death in adolescence, Neon... |
OMIM:619751 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Patent ductus arteriosus, Double outlet right ventricle, Patent foramen ovale, Webbed neck, Ventr... |
OMIM:618316 |
Congenital Left Ventricular Aneurysm |
|
Abnormal T-wave, Abnormal left ventricle morphology, Congestive heart failure, Arrhythmia, Abnorm... |
ORPHA:1055 |
Loeys-Dietz Syndrome 4 |
|
Aortic tortuosity, Aortic root aneurysm, Ascending tubular aorta aneurysm, Pneumothorax, Torticol... |
OMIM:614816 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... |
OMIM:616117 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Congestive heart failure, Premature ventr... |
OMIM:607450 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Aortic aneurysm, Obstructive sleep apnea |
OMIM:620070 |
Lambert Syndrome |
|
Intrahepatic biliary atresia, Branchial anomaly, Ventricular septal defect, Jaundice, Cholestasis |
ORPHA:1296 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Double outlet right ventricle, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic v... |
ORPHA:477817 |
Congenital Tracheomalacia |
|
Patent ductus arteriosus, Pulmonary arterial hypertension, Cardiomegaly, Ventricular septal defec... |
ORPHA:95430 |
Cardiac Valvular Dysplasia, X-Linked |
|
Bicuspid aortic valve, Mitral valve prolapse, Short chordae tendineae of the tricuspid valve, Sho... |
OMIM:314400 |
Familial Cutaneous Collagenoma |
|
Congestive heart failure, Angina pectoris, Atrial septal defect, Cardiomyopathy |
ORPHA:53296 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Syncope, Congestive heart failure, Heart block, Arrhythmia |
ORPHA:871 |
Pseudoxanthoma Elasticum |
|
Sudden cardiac death, Retinal hemorrhage, Vascular dilatation, Restrictive cardiomyopathy, Abnorm... |
ORPHA:758 |
Congenital Contractural Arachnodactyly |
|
Aortic aneurysm |
ORPHA:115 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Venous varicosities of celiac and mesenteric vessels, Dilatation of mesenteric artery, Palate tel... |
OMIM:610655 |
Bardet-Biedl Syndrome 19 |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Hepatic steatosis, Hyp... |
OMIM:615996 |
Loeys-Dietz Syndrome |
|
Patent ductus arteriosus, Vascular dilatation, Cardiac arrest, Aortic aneurysm, Abnormal bleeding... |
ORPHA:60030 |
Isolated Dandy-Walker Malformation |
|
Tetralogy of Fallot, Encephalocele |
ORPHA:217 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Cerebral edema, Death in infancy, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic ... |
OMIM:611126 |
Macs Syndrome |
|
Bronchiectasis, Dilation of Virchow-Robin spaces, Aortic aneurysm, Bruising susceptibility, Prolo... |
OMIM:613075 |
Maternally-Inherited Diabetes And Deafness |
|
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia |
ORPHA:225 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Left ventricular hypertrophy, Bradycardia, Congestive heart failure |
OMIM:619048 |
Pulmonary Hypertension, Primary, 1 |
|
Pulmonary arterial hypertension, Arterial intimal fibrosis, Pulmonary arterial medial hypertrophy... |
OMIM:178600 |
Chondrodysplasia, Blomstrand Type |
|
Polyhydramnios, Hydrops fetalis, Fetal ascites, Stillbirth, Preductal coarctation of the aorta |
OMIM:215045 |
Hughes-Stovin Syndrome |
|
Pulmonary arterial hypertension, Pulmonary embolism, Pulmonary artery aneurysm, Arterial stenosis... |
ORPHA:228116 |
Atrial Septal Defect, Ostium Secundum Type |
|
Pedal edema, Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricular functi... |
ORPHA:99103 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Ascending tubular aorta aneurysm, Vascular tortuosity, Emphysema, Supravalvular aortic stenosis, ... |
OMIM:219100 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Cardiomyopathy, Abnormal aortic morphology, Hypertension, Arrhythmia |
ORPHA:3222 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... |
OMIM:620066 |
Mungan Syndrome |
|
Tricuspid regurgitation, Pulmonic stenosis, Perimembranous ventricular septal defect |
OMIM:611376 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Pericardial effusion, Pleural effusion, Hypertrophic cardiomyopathy, Shortened PR in... |
OMIM:261740 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Left ventricular hypertrophy, Congestive heart failure, Dilated cardiomyopathy |
ORPHA:206546 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Polyhydramnios, Congestive heart failure |
OMIM:616794 |
Hutchinson-Gilford Progeria Syndrome |
|
Angina pectoris, Congestive heart failure, Myocardial infarction, Premature coronary artery ather... |
OMIM:176670 |
Dural Sinus Malformation |
|
Cerebellar hemorrhage, Vascular dilatation, Cerebral hemorrhage, Carotid cavernous fistula, Intra... |
ORPHA:97339 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Dilated cardiomyopathy, Congestive heart failure, Cardiomyopathy |
OMIM:608099 |
Feingold Syndrome Type 1 |
|
Patent ductus arteriosus, Interrupted aortic arch, Abnormal heart morphology, Multiple muscular v... |
ORPHA:391641 |
Parkes Weber Syndrome |
|
Vascular dilatation, Bounding pulse, Arteriovenous malformation, Cerebral arteriovenous malformat... |
ORPHA:90307 |
Butyrylcholinesterase Deficiency |
|
Myocardial infarction, Congestive heart failure |
ORPHA:132 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Patent ductus arteriosus, Bidirectional shunt, Elevated pulmonary artery pressure, Thoracic aorti... |
OMIM:619351 |
Heterotaxy, Visceral, 5, Autosomal |
|
Patent ductus arteriosus, Double outlet right ventricle, Atrial reentry tachycardia, Ascending tu... |
OMIM:270100 |
Tako-Tsubo Cardiomyopathy |
|
Hypotension, Coronary artery stenosis, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris... |
ORPHA:66529 |
Pseudoxanthoma Elasticum |
|
Retinal hemorrhage, Restrictive cardiomyopathy, Accelerated atherosclerosis, Mitral stenosis, Mit... |
OMIM:264800 |
Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Heart murmur, Hypertension, Ascending aortic dissection, Coarctation of aor... |
ORPHA:402075 |
Congenital Myopathy 8 |
|
Cardiomegaly, Congestive heart failure |
OMIM:618654 |
Chromosome 9P Deletion Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Perimembranous ventricular septal defect, He... |
OMIM:158170 |
Transaldolase Deficiency |
|
Telangiectasia, Hydrops fetalis, Atrial septal defect, Coarctation of aorta, Edema, Biventricular... |
ORPHA:101028 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Common atrium, Atrial septal defect, Tetralogy... |
OMIM:208530 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Severely reduced left ventricular ejection fraction, Congestive heart failu... |
OMIM:611705 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory insufficiency, Left ventricular outflow tract obstruction, Hypertrophic cardiomyopath... |
ORPHA:365 |
Timothy Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Prolonged QT interval,... |
OMIM:601005 |
Cednik Syndrome |
|
Stroke, Congestive heart failure |
ORPHA:66631 |
8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
ORPHA:251076 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Patent ductus arteriosus, Double outlet right ventricle, Umbilical hernia, Mitral atresia, Redund... |
OMIM:618164 |
Marfanoid Habitus With Situs Inversus |
|
Aortic root aneurysm, Aortic regurgitation, Persistent left superior vena cava, Obstructive sleep... |
OMIM:609008 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:619717 |
Nemaline Myopathy 9 |
|
Polyhydramnios, Ventricular septal defect |
OMIM:615731 |
Seckel Syndrome 10 |
|
Abdominal aortic aneurysm, Elevated circulating alanine aminotransferase concentration, Hypertens... |
OMIM:617253 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Pulmonary arterial hypertension, Vascular dilatation, Hypertension, Short neck, Tachypnea |
OMIM:613320 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Anomalous origin of ri... |
OMIM:610338 |
Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Pulmonary arterial hypertension, Elevated jugular venous pressure, Abnormally loud pulmonic compo... |
OMIM:265450 |
Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Pedal edema, Pulmonary edema, Abnormal EKG,... |
ORPHA:330001 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Death in infancy, Abnormal aortic valve morphology, Congestive heart failure, Oligohydramnios, Hy... |
ORPHA:1194 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Hepatic arteriovenous malformation, Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad ... |
OMIM:187300 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Heart murmur, Interrupted aortic arch, Hydro... |
ORPHA:163979 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Abnormal cerebral artery morphology, Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syn... |
ORPHA:90065 |
Alport Syndrome |
|
Abnormal aortic morphology, Aortic aneurysm, Hypertension, Renal glomerular foam cells, Dyspnea, ... |
ORPHA:63 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Supracardiac total anomalous pulmonary venous connection, Pulmonary artery stenosis, Tricuspid re... |
ORPHA:99125 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Mitral valve pro... |
ORPHA:371428 |
Noonan Syndrome 12 |
|
Supravalvular aortic stenosis, Polyhydramnios, Tetralogy of Fallot, Ventricular septal defect |
OMIM:618624 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy |
OMIM:618234 |
Hemochromatosis, Type 2A |
|
Cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Arrhythmia |
OMIM:602390 |
Antithrombin Iii Deficiency |
|
Pulmonary embolism, Arterial occlusion |
OMIM:613118 |
Heterotaxy, Visceral, 2, Autosomal |
|
Double outlet right ventricle, Atrioventricular canal defect, Left atrial isomerism, Bilateral su... |
OMIM:605376 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Tetralogy of Fallot |
OMIM:615542 |
Complete Atrioventricular Septal Defect |
|
Elevated pulmonary artery pressure, Systolic heart murmur, Right bundle branch block, Cardiomegal... |
ORPHA:1329 |
Atrial Septal Defect 1 |
|
Subvalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot with pulmonary atresi... |
OMIM:108800 |
Naxos Disease |
|
Sudden cardiac death, Paroxysmal ventricular tachycardia, Congestive heart failure, Arrhythmia, C... |
ORPHA:34217 |
Craniofacioskeletal Syndrome |
|
Patent ductus arteriosus, Interrupted aortic arch, Ventricular septal defect, Atrial septal defect |
OMIM:300712 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Hemothorax, Persistent bleeding after trauma, Abnormal umbilical stump bleeding, Abnormal bleedin... |
ORPHA:79 |
Feingold Syndrome 1 |
|
Patent ductus arteriosus, Polyhydramnios, Ventricular septal defect, Interrupted aortic arch, Tri... |
OMIM:164280 |
Cardiomyopathy, Dilated, 2D |
|
Pulmonary arterial hypertension, Patent foramen ovale, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:619371 |
Monosomy 18Q |
|
Patent ductus arteriosus, Left-to-right shunt, Aortic aneurysm, Congestive heart failure, Left ao... |
ORPHA:1600 |
1Q21.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Interrupted aortic arch, Hydrocephalus, Abnormal cardiac septum morphology |
ORPHA:250989 |
Renal Tubular Dysgenesis |
|
Polyhydramnios, Tetralogy of Fallot, Oligohydramnios |
ORPHA:3033 |
Atrioventricular Septal Defect 5 |
|
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
Collagenoma, Familial Cutaneous |
|
Cardiomyopathy, Right ventricular cardiomyopathy, Vasculitis, Congestive heart failure, Atrial fi... |
OMIM:115250 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypertrophic cardiomyopathy, Stroke-like episode, Congestive heart failure, Abnormal heart morpho... |
ORPHA:70472 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Telangiectasia, Subcutaneous hemorrhage, Arteriovenous malformation, Aortic aneurysm, Angina pect... |
ORPHA:109 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Patent ductus arteriosus, Patent foramen ovale, Secundum atrial septal defect, Congestive heart f... |
OMIM:616866 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Abnormal aortic morphology, Tetralogy of Fallot, Abnormality of the pulmonary artery, Ventricular... |
ORPHA:1166 |
Desminopathy |
|
Sudden cardiac death, Concentric hypertrophic cardiomyopathy, Supraventricular arrhythmia, Conges... |
ORPHA:98909 |
Mulibrey Nanism |
|
Hydrops fetalis, Pericardial constriction, Congestive heart failure, Myocardial fibrosis, Cardiom... |
OMIM:253250 |
Familial Dyskinesia And Facial Myokymia |
|
Dilated cardiomyopathy, Congestive heart failure |
ORPHA:324588 |
Atrioventricular septal defect 3 |
|
Pulmonary arterial hypertension, Atrioventricular canal defect, Inlet ventricular septal defect, ... |
OMIM:600309 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect |
OMIM:617044 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Aortic aneurysm, Atrial septal defect, Aortic regu... |
ORPHA:261330 |
Cap Myopathy |
|
Aortic root aneurysm, Sinus tachycardia, Reduced systolic function, Central hypoventilation |
ORPHA:171881 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Pulmonary embolism, Venous insufficiency, Purpura, Abnormal cerebral vascular morphology |
ORPHA:745 |
Congenital Factor X Deficiency |
|
Prolonged bleeding after surgery, Hemoperitoneum, Post-partum hemorrhage, Antepartum hemorrhage, ... |
ORPHA:328 |
Epidermal Nevus Syndrome |
|
Aortic aneurysm |
ORPHA:35125 |
Pulmonary Arteriovenous Malformation |
|
Pulmonary arterial hypertension, Pulmonary hemorrhage, Telangiectasia, Ischemic stroke, Pleural e... |
ORPHA:2038 |
Gm1-Gangliosidosis, Type I |
|
Hydrops fetalis, Death in infancy, Dilated cardiomyopathy, Congestive heart failure, Hypertrophic... |
OMIM:230500 |
Methimazole Embryofetopathy |
|
Polyhydramnios, Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta |
ORPHA:1923 |
14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:261120 |
Perlman Syndrome |
|
Interrupted aortic arch, Ascites, Edema, Polyhydramnios |
OMIM:267000 |
Lymphatic Malformation 7 |
|
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Atrial septal defec... |
OMIM:617300 |
Lateral Meningocele Syndrome |
|
Patent ductus arteriosus, Meningocele, Aortic aneurysm, Short neck, Obstructive sleep apnea, Umbi... |
OMIM:130720 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Purpura, Cerebral hemorrhage |
OMIM:614514 |
Noonan Syndrome 8 |
|
Patent ductus arteriosus, Polyhydramnios, Webbed neck, Ventricular septal defect, Left ventricula... |
OMIM:615355 |
Thrombophilia Due To Thrombomodulin Defect |
|
Pulmonary embolism |
OMIM:614486 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Patent ductus arteriosus, Reduced left ventricular ejection fraction, Left ventricular noncompact... |
OMIM:616501 |
Fabry Disease |
|
Lymphedema, Transient ischemic attack, Left ventricular hypertrophy, Congestive heart failure, An... |
OMIM:301500 |
Primary Ciliary Dyskinesia |
|
Double outlet right ventricle, Hydrocephalus, Atrial situs ambiguous, Anomalous pulmonary venous ... |
ORPHA:244 |
Encephalocraniocutaneous Lipomatosis |
|
Pulmonary arterial hypertension, Abnormal aortic morphology, Interrupted aortic arch, Coarctation... |
ORPHA:2396 |
Hemochromatosis, Type 2B |
|
Congestive heart failure, Cardiomyopathy |
OMIM:613313 |
Diamond-Blackfan Anemia 6 |
|
Patent ductus arteriosus, Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolap... |
OMIM:612561 |
Yuan-Harel-Lupski Syndrome |
|
Aortic root aneurysm, Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic v... |
OMIM:616652 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Pulmonary embolism, Subcutaneous hemorrhage, Abnormal cerebral vascular morphology, Purpura, Veno... |
ORPHA:743 |
Thrombophilia, X-Linked, Due To Factor Viii Defect |
|
Pulmonary embolism |
OMIM:301071 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Perimembranous ventricular septal defect, Secundum atrial septal defect, Congestive heart failure... |
OMIM:608779 |
Criss-Cross Heart |
|
Ventricular septal defect, Abnormal mitral valve morphology, Mitral stenosis, Supravalvular aorti... |
ORPHA:1461 |
3-Methylglutaconic Aciduria, Type V |
|
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure, Noncompaction cardiomyopa... |
OMIM:610198 |
Cardiomyopathy, Dilated, 1Y |
|
Ebstein anomaly of the tricuspid valve, Congestive heart failure, Dilated cardiomyopathy, Increas... |
OMIM:611878 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Arrhythmia, Congestive heart failure, Death in infancy |
ORPHA:157973 |
Holt-Oram Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Ventricular ... |
ORPHA:392 |
Isotretinoin-Like Syndrome |
|
Patent ductus arteriosus, Conotruncal defect, Bicuspid aortic valve, Hydrocephalus, Abnormal aort... |
ORPHA:2306 |
Alkaptonuria |
|
Aortic aneurysm, Coronary artery calcification |
OMIM:203500 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Double outlet right ventricle, Polyhydramnios, Ventricular septal defect, Redundant neck skin, Ab... |
OMIM:301056 |
Coach Syndrome 1 |
|
Hepatic fibrosis, Vascular dilatation, Encephalocele, Cirrhosis, Intrahepatic bile duct dilatatio... |
OMIM:216360 |
Carnitine Deficiency, Systemic Primary |
|
Endocardial fibroelastosis, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgi... |
OMIM:212140 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Patent ductus arteriosus, Double outlet right ventricle, Hydrocephalus, Atrial septal defect |
OMIM:614886 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Recurrent pneumonia, Hypertension, Coarctation of aorta |
OMIM:616069 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Hypertrophic cardiomyopathy, Low-output congestive heart failure |
ORPHA:91130 |
Gastritis, Familial Giant Hypertrophic |
|
Vascular dilatation |
OMIM:137280 |
Sick Sinus Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... |
OMIM:163800 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Polyhydramnios, Congestive heart failure, Atrial septal defect |
ORPHA:500533 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Atrioventricular canal defect, Truncus arteriosus, Ventricular septal defect, Perimembranous vent... |
ORPHA:508498 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Patent ductus arteriosus, Patent foramen ovale, Interrupted aortic arch, Coarctation of aorta, Hy... |
ORPHA:17 |
Maternal Uniparental Disomy Of Chromosome X |
|
Predominantly lower limb lymphedema, Short neck, Congestive heart failure, Low posterior hairline |
ORPHA:261519 |
Maternal Phenylketonuria |
|
Double outlet right ventricle, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... |
ORPHA:2209 |
Phaver Syndrome |
|
Myelomeningocele, Ventricular septal defect, Coarctation of aorta, Hypoplastic aortic arch, Pulmo... |
ORPHA:2876 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Ventricular septal defect, Atrial septal defect |
OMIM:614249 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Pulmonary artery atresi... |
OMIM:612946 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Abnormal heart morphology,... |
ORPHA:261183 |
Naxos Disease |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph... |
OMIM:601214 |
Diabetic Embryopathy |
|
Abnormal aortic morphology, Spinal dysraphism, Abnormality of the neck, Ventricular septal defect... |
ORPHA:1926 |
Hemochromatosis, Type 1 |
|
Telangiectasia, Congestive heart failure, Pleural effusion, Arrhythmia, Cardiomegaly, Ascites, Ca... |
OMIM:235200 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Vascular dilatation, Bruising susceptibility, Aortic dissection, Varicose veins, Pulmonic stenosis |
OMIM:618343 |
Meester-Loeys Syndrome |
|
Aortic root aneurysm, Ascending tubular aorta aneurysm, Pulmonary artery aneurysm, Bruising susce... |
OMIM:300989 |
Li-Campeau Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect |
OMIM:619189 |
Neurooculocardiogenitourinary Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Redundant neck skin, A... |
OMIM:618652 |
Loeys-Dietz Syndrome 2 |
|
Abdominal aortic aneurysm, Aortic root aneurysm, Patent ductus arteriosus, Aortic arch aneurysm, ... |
OMIM:610168 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect |
OMIM:618330 |
American Trypanosomiasis |
|
Congestive heart failure, Arrhythmia, Edema, Periorbital edema, Myocarditis, Cardiomyopathy |
ORPHA:3386 |
Polymyositis |
|
Abnormal atrioventricular conduction, Abnormal mitral valve morphology, Congestive heart failure,... |
ORPHA:732 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Mitral regurgitation, Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
Danon Disease |
|
Second degree atrioventricular block, Increased QRS voltage, Severely reduced left ventricular ej... |
OMIM:300257 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Vascular dilatation |
OMIM:617219 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Anencephaly, Hypoplastic left heart, Ventricular septal defect |
ORPHA:2476 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Aortic root aneurysm, Transposition of the great arteries, Cerebral cavernous malformation |
OMIM:619910 |
22Q11.2 Deletion Syndrome |
|
Meningocele, Polyhydramnios, Truncus arteriosus, Retinal arteriolar tortuosity, Abnormal aortic a... |
ORPHA:567 |
Halperin-Birk Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture, Umbilical hernia, Perimembranous ventricula... |
OMIM:618651 |
Spinal Arteriovenous Metameric Syndrome |
|
Arteriovenous malformation, Congestive heart failure, Spinal arteriovenous malformation |
ORPHA:53721 |
Boudin-Mortier Syndrome |
|
Aortic root aneurysm, Elevated alkaline phosphatase of bone origin |
OMIM:619543 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
Noonan Syndrome 9 |
|
Webbed neck, Ventricular septal defect, Coarctation of aorta, Short neck, Pulmonic stenosis |
OMIM:616559 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic root aneurysm, Aortic atherosclerotic lesion, Ventricular hypertrophy, Intracranial hemorr... |
ORPHA:363618 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Patent ductus arteriosus, Ventricular septal defect, Hypertension, Atrial septal defect, Tachycardia |
OMIM:613870 |
Pericardial And Diaphragmatic Defect |
|
Patent ductus arteriosus, Mitral stenosis, Bicuspid aortic valve, Partial diaphragmatic absence o... |
ORPHA:2847 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect, Death in infancy |
OMIM:616277 |
Aneurysm-Osteoarthritis Syndrome |
|
Abdominal aortic aneurysm, Patent ductus arteriosus, Umbilical hernia, Vascular dilatation, Pulmo... |
ORPHA:284984 |
Xk Aprosencephaly Syndrome |
|
Polyhydramnios, Ventricular septal defect, Atrial septal defect |
ORPHA:3469 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Dilated cardiomyopathy |
ORPHA:1349 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Webbed neck, Aortic aneurysm, Spina bifida occulta, Low posterior hairline, Neonatal respiratory ... |
ORPHA:2990 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Arteriovenous malformation, Congestive heart failure, Venous insufficiency |
ORPHA:137608 |
Loeys-Dietz Syndrome 3 |
|
Aortic tortuosity, Abdominal aortic aneurysm, Patent ductus arteriosus, Tortuous cerebral arterie... |
OMIM:613795 |
Analbuminemia |
|
Patent ductus arteriosus, Edema, Hypotension, Oligohydramnios |
OMIM:616000 |
Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
Lymphedema-Distichiasis Syndrome |
|
Patent ductus arteriosus, Webbed neck, Ventricular septal defect, Lymphedema, Predominantly lower... |
OMIM:153400 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology |
ORPHA:1110 |
Dk1-Cdg |
|
Interstitial cardiac fibrosis, Dilated cardiomyopathy, Congestive heart failure, Cardiomyocyte hy... |
ORPHA:91131 |
Primary Lipodystrophy |
|
Hypertension, Congestive heart failure, Angina pectoris, Type IV atherosclerotic lesion, Cardiomy... |
ORPHA:90970 |
Ogden Syndrome |
|
Torsade de pointes, Secundum atrial septal defect, Redundant neck skin, Premature atrial contract... |
OMIM:300855 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Vascular dilatation |
OMIM:617056 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Atherosclerosis, Advanced eruption of teeth, Congestive heart failure, Hypertrophic cardiomyopath... |
ORPHA:2348 |
Lymphatic Malformation 8 |
|
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Stillbirth, Ge... |
OMIM:618773 |
Catel-Manzke Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Atrial septal defect |
ORPHA:1388 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... |
OMIM:616249 |
Thrombophilia Due To Thrombin Defect |
|
Pulmonary embolism |
OMIM:188050 |
Congenital Tricuspid Stenosis |
|
Pulmonary arterial hypertension, Hypotension, Bacterial endocarditis, Heart murmur, Congestive he... |
ORPHA:95459 |
X-Linked Intellectual Disability, Nascimento Type |
|
Patent ductus arteriosus, Double outlet right ventricle, Pulmonary arterial hypertension, Patent ... |
ORPHA:163956 |
Glossopharyngeal Neuralgia |
|
Jaw claudication, Vascular dilatation, Bradycardia, Syncope |
ORPHA:221098 |
Combined Oxidative Phosphorylation Deficiency 22 |
|
Pulmonary arterial hypertension, Congestive heart failure |
OMIM:616045 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Patent ductus arteriosus, Anomalous pulmonary venous return, Tetralogy of Fallot, Communicating h... |
ORPHA:2184 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Polyhydramnios, Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Cardiac ... |
OMIM:619534 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Dilated cardiomyopathy, Congestive heart failure |
OMIM:606703 |
Pparg-Related Familial Partial Lipodystrophy |
|
Atherosclerosis, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Coronary ar... |
ORPHA:79083 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect |
OMIM:618974 |
Neonatal Marfan Syndrome |
|
Aortic root aneurysm, Ascending tubular aorta aneurysm, Heart murmur, Hypoxemia, Emphysema, Mitra... |
ORPHA:284979 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Polyhydramnios, Dilated cardiomyopathy, Congestive heart failure, Nonimmune hydrops fetalis, Abno... |
ORPHA:367 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Aortic root aneurysm, Mitral regurgitation |
OMIM:301039 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Aortic root aneurysm, Carotid artery stenosis, Webbed neck, Bruising susceptibility, Prominent su... |
OMIM:618000 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Hepatic arteriovenous malformation, Facial telangiectasia, Ischemic stroke, Spontaneous, recurren... |
OMIM:600376 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Camptodactyly, Arthrogryposis multiplex congenita, Atrial septal defec... |
OMIM:614262 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Congestive heart... |
ORPHA:324410 |
Fetal Trimethadione Syndrome |
|
Tetralogy of Fallot, Transposition of the great arteries, Ventricular septal defect, Atrial septa... |
ORPHA:1913 |
Chromosome 18Q Deletion Syndrome |
|
Patent ductus arteriosus, Ascending tubular aorta aneurysm, Asthma, Congestive heart failure, Sho... |
OMIM:601808 |
Tatton-Brown-Rahman Syndrome |
|
Aortic root aneurysm, Patent ductus arteriosus, Supraventricular tachycardia with an accessory co... |
ORPHA:404443 |
Transaldolase Deficiency |
|
Patent ductus arteriosus, Patent foramen ovale, Hepatic fibrosis, Cirrhosis, Telangiectasia, Vent... |
OMIM:606003 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Umbilical hernia, Macroglossia, Perimembranous ventricular septal defect, Ventricular septal defect |
OMIM:301040 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Stroke, Congestive heart failure |
ORPHA:3077 |
Down Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, Atrioventricular canal defect, Patent fo... |
OMIM:190685 |
Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Ascites, Atrial septal defect, Dehydration |
ORPHA:1667 |
Classic Multiminicore Myopathy |
|
Mitral valve prolapse, Limited neck flexion, Congestive heart failure, Right ventricular failure,... |
ORPHA:324604 |
Non-Functioning Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:94080 |
You-Hoover-Fong Syndrome |
|
Double aortic arch, Vascular ring, Coarctation of aorta |
OMIM:616954 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Atrial septal defect |
OMIM:608227 |
Autosomal Dominant Cutis Laxa |
|
Dilatation of the ventricular cavity, Bronchiectasis, Aortic aneurysm, Congestive heart failure, ... |
ORPHA:90348 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Severely reduced left ventricular ejection fraction, Wolff-Parkinson-White syndrome, Left ventric... |
ORPHA:444013 |
Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Antenatal intracerebral hemorrhage, Cerebral hemorrhage, Aortic aneurysm, Bruising susceptibility... |
ORPHA:536545 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Ventricular septal defect, Hepatomegaly |
OMIM:613730 |
Charge Syndrome |
|
Patent ductus arteriosus, Polyhydramnios, Aortic arch aneurysm, Aqueductal stenosis, Abnormal car... |
ORPHA:138 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Aortic root aneurysm, Umbilical hernia, Recurrent sinusitis, Bruising susceptibility |
OMIM:130000 |
Histiocytoid Cardiomyopathy |
|
Supraventricular tachycardia, Right bundle branch block, Ventricular septal defect, Pulmonary ede... |
ORPHA:137675 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Aortic root aneurysm, Respiratory insufficiency, Ascending tubular aorta aneurysm, Repeated pneum... |
ORPHA:536467 |
Hereditary Hemorrhagic Telangiectasia |
|
Abnormal cerebral vascular morphology, Retinal telangiectasia, Subarachnoid hemorrhage, Pulmonary... |
ORPHA:774 |
Arterial Tortuosity Syndrome |
|
Aortic tortuosity, Aortic root aneurysm, Ischemic stroke, Hypertension, Bruising susceptibility, ... |
OMIM:208050 |
Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Arteriovenous malformation, Intracranial hemorrhage, Venous insufficiency, Ar... |
ORPHA:624 |
Aicardi-Goutières Syndrome |
|
Moyamoya phenomenon, Arrhinencephaly, Calcification of the aorta, Aortic aneurysm, Raynaud phenom... |
ORPHA:51 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Sudden cardiac death, Dilatation of the ventricular cavity, Right ventricular cardiomyopathy, Car... |
OMIM:609040 |
Meacham Syndrome |
|
Patent ductus arteriosus, Conotruncal defect, Ventricular septal defect, Atrial septal defect, Co... |
ORPHA:3097 |
Kawasaki Disease |
|
Ascending tubular aorta aneurysm, Hepatitis, Jaundice, Congestive heart failure, Pericarditis, Ch... |
ORPHA:2331 |
8Q24.3 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Truncus arteriosus, Ventricular septal d... |
ORPHA:508488 |
Acquired Purpura Fulminans |
|
Macular purpura, Hepatic failure, Intracranial hemorrhage, Internal hemorrhage, Shock, Prolonged ... |
ORPHA:49566 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Vascular dilatation |
OMIM:277320 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Respiratory insufficiency, Vascular dilatation, Dilatation of the ventricular cavity, Pneumothora... |
ORPHA:90349 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Aortic aneurysm, Obstructive sleep apnea, Umbilical hernia |
OMIM:182212 |
Noonan Syndrome With Multiple Lentigines |
|
Vascular dilatation, Webbed neck, Bundle branch block, Abnormality of the pulmonary artery, Spina... |
ORPHA:500 |
Polysyndactyly With Cardiac Malformation |
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Hepatic cysts, Stillbirth, Ventricular septal defect, Atrial septal defect |
OMIM:263630 |
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
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Pulmonary embolism, Vitreous hemorrhage, Purpura |
OMIM:612304 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
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Polyhydramnios, Atrioventricular canal defect, Hydrocephalus, Dextrocardia, Persistent left super... |
OMIM:314390 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
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Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Episodic hyperten... |
OMIM:171420 |
Refsum Disease, Classic |
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Cardiomyopathy, Cardiomegaly, Congestive heart failure, Arrhythmia |
OMIM:266500 |
Familial Idiopathic Dilatation Of The Right Atrium |
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Complete heart block with narrow QRS complexes, Cardiomegaly, Abnormal cardiac ventricular functi... |
ORPHA:1677 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
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Ventricular septal defect, Atrial septal defect, Situs inversus totalis, Arrhythmia, Stroke, Card... |
OMIM:249270 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
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Patent ductus arteriosus, Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic val... |
ORPHA:284169 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
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Patent ductus arteriosus, Vascular dilatation, Abnormal cerebral vascular morphology, Arterial st... |
ORPHA:2637 |
Microphthalmia, Syndromic 12 |
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Hypoplastic left atrium, Congenital diaphragmatic hernia, Ventricular septal defect |
OMIM:615524 |
Aminopterin/Methotrexate Embryofetopathy |
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Meningocele, Spinal dysraphism, Encephalocele, Ventricular septal defect, Anencephaly, Hydrocepha... |
ORPHA:1908 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
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