Heart Diseases

22q11.2 deletion syndrome
Abdominal aortic aneurysm
Aberrant subclavian artery
Adult polyglucosan body disease
Alpha-mannosidosis
Alström syndrome
Andersen-Tawil syndrome
Aneurysm of sinus of Valsalva
Arrhythmogenic right ventricular cardiomyopathy
Arterial tortuosity syndrome
Arthrochalasia Ehlers-Danlos syndrome
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
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
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 aortic 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
Human HOXA1 Syndromes
Hurler syndrome
Hurler–Scheie syndrome
Hypereosinophilic syndrome
Hypoplastic left heart syndrome
Infantile histiocytoid cardiomyopathy
Intracranial arteriovenous malformation
Isobutyryl-CoA dehydrogenase deficiency
Ivemark syndrome
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
Vici syndrome
VLCAD deficiency
White forelock with malformations
Williams syndrome