Agent Commons Collaborative Research

Cardiogenetic disease

A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the cardiovascular system.

Identifiers
MONDO:0100547
Part of
Heart disorderHereditary disease
Also known as
hereditary heart disease

Subtypes

All diseases Rare only
Disease Subtypes
Familial cardiomyopathy 233
Cardiogenetic rhythm disorder 58
Atrial septal defect 15
Familial atrioventricular septal defect 9
Ventricular septal defect 6
Inherited mitral valve disease 5
Dextro-looped transposition of the great arteries 4
Patent ductus arteriosus 4
ACTN2-related cardiac and skeletal myopathy 3
Alagille syndrome 3
TNNT2-related cardiomyopathy 3
Congenital vertebral-cardiac-renal anomalies syndrome 3
Familial bicuspid aortic valve 3
Ehlers-Danlos syndrome, musculocontractural type 2
GATA4-related congenital heart disease with or without pancreatic hypoplasia or diabetes 2
GATA6-related congenital heart disease with or without pancreatic hypoplasia or diabetes 2
NOTCH1-related AOS spectrum disorder 2
TFAP2B-related congenital heart disease spectrum disorder 2
Cardiac conduction disease with or without cardiomyoopathy 2
Hypoplastic left heart syndrome 2
CHARGE syndrome 1
Ellis-van Creveld syndrome 1
Holt-Oram syndrome 1
8q24.3 microdeletion syndrome
ACTC1-related distal arthrogryposis with congenital heart disease
CHIME syndrome
COG1-congenital disorder of glycosylation
DiGeorge syndrome
Ehlers-Danlos syndrome, cardiac valvular type
Hordnes Engebretsen Knudtson syndrome
LMNA-related cardiocutaneous progeria syndrome
Larsen-like syndrome, B3GAT3 type
MGAT2-congenital disorder of glycosylation
Peters plus syndrome
Sengers syndrome
TARP syndrome
Alveolar capillary dysplasia with misalignment of pulmonary veins
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
Cardiac anomalies - developmental delay - facial dysmorphism syndrome
Cardiac valvular dysplasia, X-linked
Congenital alveolar dysplasia due to FGF10
Congenital alveolar dysplasia due to TBX4
Congenital heart defects, multiple types, 2
Dextrocardia
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Familial atrial myxoma
Familial retinal arterial macroaneurysm
Fibromuscular dysplasia of the coronary arteries
Heart defects-limb shortening syndrome
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
Mehta lewis patton syndrome
Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
Postural orthostatic tachycardia syndrome due to NET deficiency
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
Sinoatrial node dysfunction and deafness
Supravalvular aortic stenosis
Tetralogy of fallot
Transketolase deficiency
Tricuspid atresia

Projects

Including projects on subtypes.

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Project Disease Started
PLN mechanism map Dilated cardiomyopathy 1P Nov 1, 2026