Human Genetics of Tricuspid Atresia and Univentricular Heart

• Published in: Advances in experimental medicine and biology Vol. 1441; p. 875
• Main Authors: Sleiman, Abdul-Karim, Sadder, Liane, Nemer, George
• Format: Journal Article
• Language: English
• Published: United States 2024
• Subjects: Chromosome Aberrations; Humans; Phenotype; Tricuspid Atresia - genetics; Univentricular Heart - genetics; Alagille syndrome; Cardiac progenitor cells; Endocardium; Mesoderm; Transposition of the great arteries; Univentricular heart; ASD; Ellis–van Creveld syndrome; HEY2; Atrial septal defect; Endocardial cushions; NKX2-5; KLF13; Atrioventricular valve; Ventricular septal defect; VSD; Epicardium; Trisomy 18; NFATC1; 22q11 deletion; Tricuspid atresia; AV valve; TGA; Trisomy 13; FOG2; Myocardium; ZFPM2; MYH6
• ISSN: 0065-2598
• 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.