Human genetics of tricuspid atresia and univentricular heart

Abstract

Tricuspid atresia (TA) is a rare congenital heart condition that presents with a complete absence of the right atrioventricular valve. Because familial and/or isolated cases of TA are rare, little is known regarding the potential genetic abnormalities contributing to TA. Exploratory studies have determined potential etiologic chromosomal abnormalities including deletions in 22q11, 4q31, 8p23 and 3p as well as trisomies 13 and 18. In parallel, potential culprits include the ZFPM2, HEY2, NFATC1, NKX2-5, and MYH6 genes. The aim of this chapter is to expose the genetic components that are potentially involved in the pathogenesis of TA in humans. A large variability in phenotypes and genotypes of cases of TA suggests a genetic network that involves many components yet to be unraveled.