Cardiac valvular dysplasia-1 (CVDP1) is characterized by congenital malformations of the pulmonic, tricuspid, and mitral valves. Structural cardiac defects, including atrial and ventricular septal defects, single left ventricle, and hypoplastic right ventricle have also been observed in affected individuals (Ta-Shma et al., 2017).
Genetic Heterogeneity of Cardiac Valvular Dysplasia
CVDP2 (620067) is caused by mutation in the ADAMTS19 gene (607513) on chromosome 5q23. [from OMIM]
- MedGen UID:
- 1823949
- •Concept ID:
- C5774175
- •
- Disease or Syndrome