Tricuspid Atresia

Clinical Features

Tricuspid atresia is a common form of congenital heart disease, accounting for 1 to 3% of congenital cardiac disorders (Sade and Fyfe, 1990). Tricuspid atresia is characterized by the congenital agenesis of the tricuspid valve connecting the right atrium to the right ventricle and both an atrial septal defect (ASD) and a ventricular septal defect (VSD). Some patients also have pulmonic stenosis, persistence of a left-sided superior vena cava, or transposition of the great arteries. Most cases of tricuspid atresia are sporadic; familial examples of tricuspid atresia were reported by Kumar et al. (1994), Lin and Rosti (1998), and Bonnet et al. (1999).

Molecular Genetics

Sarkozy et al. (2005) excluded mutations in the ZFPM2 (603693) and the HEY2 (604674) genes in 40 unrelated Italian patients with nonsyndromic isolated tricuspid atresia. The findings indicated that the mouse model reported by Svensson et al. (2000) with disruption of the Zfpm2 gene is not a proper model for human tricuspid atresia.

Animal Model

Svensson et al. (2000) found that targeted mutation of the Zfpm2 gene in mice resulted in a syndrome of tricuspid atresia.