Human Genetics of Tricuspid Atresia and Univentricular Heart

Adv Exp Med Biol. 2024:1441:875-884. doi: 10.1007/978-3-031-44087-8_54.


Tricuspid atresia (TA) is a rare congenital heart condition that presents with a complete absence of the right atrioventricular valve. Because of the rarity of familial and/or isolated cases of TA, little is known about the potential genetic abnormalities contributing to this condition. Potential responsible chromosomal abnormalities were identified in exploratory studies and include deletions in 22q11, 4q31, 8p23, and 3p as well as trisomies 13 and 18. In parallel, potential culprit genes include the ZFPM2, HEY2, NFATC1, NKX2-5, MYH6, and KLF13 genes. The aim of this chapter is to expose the genetic components that are potentially involved in the pathogenesis of TA in humans. The large variability in phenotypes and genotypes among cases of TA suggests a genetic network that involves many components yet to be unraveled.

Keywords: 22q11 deletion; ASD; AV valve; Alagille syndrome; Atrial septal defect; Atrioventricular valve; Cardiac progenitor cells; Ellis–van Creveld syndrome; Endocardial cushions; Endocardium; Epicardium; FOG2; HEY2; KLF13; MYH6; Mesoderm; Myocardium; NFATC1; NKX2-5; TGA; Transposition of the great arteries; Tricuspid atresia; Trisomy 13; Trisomy 18; Univentricular heart; VSD; Ventricular septal defect; ZFPM2.

MeSH terms

  • Chromosome Aberrations
  • Humans
  • Phenotype
  • Tricuspid Atresia* / genetics
  • Univentricular Heart / genetics