Heart Diseases | Genetic and Rare Diseases Information Center …

22q11.2 deletion syndrome Abdominal aortic aneurysm Aberrant subclavian artery Adult polyglucosan body disease Alpha-mannosidosis Alstrm syndrome Andersen-Tawil syndrome Aneurysm of sinus of Valsalva Arrhythmogenic right ventricular dysplasia Arterial tortuosity syndrome Arthrochalasia Ehlers-Danlos syndrome Athabaskan brainstem dysgenesis Atrial myxoma, familial Atrial septal defect ostium primum Atrial septal defect sinus venosus Baroreflex failure Barth syndrome Becker muscular dystrophy Bidirectional tachycardia Blue rubber bleb nevus syndrome Brachydactyly long thumb type Broken heart syndrome Brugada syndrome Brugada syndrome 3 Brugada syndrome 4 Budd-Chiari syndrome Buerger disease Cardiac hydatid cysts with intracavitary expansion Cardiac rupture Cardiac-Valvular Ehlers-Danlos syndrome Cardioencephalomyopathy Cardiofaciocutaneous syndrome Cardiomyopathy cataract hip spine disease Cardiomyopathy dilated with woolly hair and keratoderma Carney complex Carnitine-acylcarnitine translocase deficiency Catecholaminergic polymorphic ventricular tachycardia Chaotic atrial tachycardia CHARGE syndrome Chromosome 1p36 deletion syndrome COG1-CDG (CDG-IIg) COG7-CDG (CDG-IIe) Combined oxidative phosphorylation deficiency 16 Congenital generalized lipodystrophy type 4 Congenital heart block Congenitally corrected transposition of the great arteries Cor triatriatum dexter Cor triatriatum sinister Costello syndrome CREST syndrome Cystic medial necrosis of aorta Danon disease DCMA syndrome Diffuse cutaneous systemic sclerosis Dilated cardiomyopathy Dilated cardiomyopathy with hypergonadotropic hypogonadism DOLK-CDG (CDG-Im) DPM3-CDG (CDG-Io) Duchenne muscular dystrophy Ebstein's anomaly Ellis Yale Winter syndrome Ellis-Van Creveld syndrome Emery-Dreifuss muscular dystrophy, X-linked Eosinophilic granulomatosis with polyangiitis Fabry disease Familial atrial fibrillation Familial dilated cardiomyopathy Familial hypertrophic cardiomyopathy Familial progressive cardiac conduction defect Familial thoracic aortic aneurysm and dissection Fibrocartilaginous embolism Fibromuscular dysplasia - Not a rare disease Friedreich ataxia Fucosidosis Gaucher disease Gaucher disease type 1 Glutaric acidemia type II Glycogen storage disease type 2 Glycogen storage disease type 3 Glycogen storage disease type 4 Heart-hand syndrome, Slovenian type Heart-hand syndrome, Spanish type HEC syndrome His bundle tachycardia Holt-Oram syndrome Hurler syndrome HurlerScheie syndrome Hypereosinophilic syndrome Hypoplastic left heart syndrome Infantile histiocytoid cardiomyopathy Intracranial arteriovenous malformation Isobutyryl-CoA dehydrogenase deficiency Ivemark syndrome Jervell and Lange-Nielsen syndrome 2 Jervell Lange-Nielsen syndrome Kallikrein hypertension Kawasaki disease Kearns-Sayre syndrome LCHAD deficiency Leber hereditary optic neuropathy Left ventricular noncompaction LEOPARD syndrome Limb-girdle muscular dystrophy type 1B Limb-girdle muscular dystrophy type 2E Limb-girdle muscular dystrophy type 2F Limb-girdle muscular dystrophy type 2M - See Limb-girdle muscular dystrophy Limb-girdle muscular dystrophy, type 2C Limb-girdle muscular dystrophy, type 2D Limited cutaneous systemic sclerosis Limited systemic sclerosis Loeys-Dietz syndrome type 2 Loeys-Dietz syndrome type 4 Long QT syndrome 1 Lymphedema and cerebral arteriovenous anomaly Lymphocytic vasculitis Mannosidosis, beta A, lysosomal McLeod neuroacanthocytosis syndrome Medulloblastoma MGAT2-CDG (CDG-IIa) Microcephaly-cardiomyopathy Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes Mitochondrial trifunctional protein deficiency Mitral atresia Mitral valve prolapse, familial, autosomal dominant Musculocontractural Ehlers-Danlos syndrome Myoclonic epilepsy with ragged red fibers Myotonic dystrophy type 1 Nathalie syndrome Naxos disease Neonatal stroke Neurofibromatosis-Noonan syndrome Noonan syndrome Noonan syndrome 1 - See Noonan syndrome Noonan syndrome 2 - See Noonan syndrome Noonan syndrome 3 - See Noonan syndrome Noonan syndrome 4 - See Noonan syndrome Noonan syndrome 5 - See Noonan syndrome Noonan syndrome 6 - See Noonan syndrome Noonan-like syndrome with loose anagen hair Ostium secundum atrial septal defect Paroxysmal ventricular fibrillation Patent ductus arteriosus Patent ductus venosus Peripartum cardiomyopathy Peters plus syndrome PGM1-CDG PHACE syndrome Postural orthostatic tachycardia syndrome - Not a rare disease Primary carnitine deficiency Progressive familial heart block type 1A Progressive familial heart block type 1B Progressive familial heart block type 2 Pseudohypoaldosteronism type 2 Pseudoxanthoma elasticum Pulmonary arterial hypertension Pulmonary atresia with intact ventricular septum Pulmonary atresia with ventricular septal defect Pulmonary valve stenosis Pulmonary vein stenosis Pulmonic stenosis Renoprival hypertension Retinal arterial macroaneurysm with supravalvular pulmonic stenosis Right ventricle hypoplasia Sarcoidosis - Not a rare disease Sengers syndrome Situs inversus Sudden Arrhythmia Death Syndrome Supravalvular aortic stenosis Swyer syndrome TANGO2-Related Metabolic Encephalopathy and Arrhythmias TARP syndrome Tetralogy of Fallot Timothy syndrome Tricuspid atresia Uhl anomaly Vici syndrome VLCAD deficiency Watson syndrome White forelock with malformations Williams syndrome

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