domingo, 27 de enero de 2019

Heart Diseases | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

Heart Diseases | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

National Center for Advancing and Translational Sciences

Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Heart Diseases

22q11.2 deletion syndrome 
Abdominal aortic aneurysm 
Aberrant subclavian artery 
Adult polyglucosan body disease 
Alström 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 
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 
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 
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 
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 
Hurler–Scheie 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 
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 
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 

No hay comentarios:

Publicar un comentario