Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations of the circulatory system
18q23
Tricuspid atresia is a congenital cardiac anomaly wherein the tricuspid valve between the right atrium and the right ventricle is absent. This results in reduced blood flow between the two chambers and hence leads to severe hypoplasia of the right ventricle.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 605067.1.1 | Lebanon | Male | Yes | Tricuspid atresia ; Transposition of th... Tricuspid atresia ; Transposition of the great arteries ; Atrial septal defect ; Hypoplastic aortic arch ; Pulmonary arterial hypertension  | NM_006162.4:c.197C>T, NM_172390.2:c.2101A>C | Heterozygous | Autosomal, Recessive | Abdul-Sater et al, 2012 |