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.
| Original language | English |
|---|---|
| Title of host publication | Congenital Heart Diseases |
| Subtitle of host publication | The Broken Heart: Clinical Features, Human Genetics and Molecular Pathways |
| Publisher | Springer-Verlag Wien |
| Pages | 583-590 |
| Number of pages | 8 |
| ISBN (Electronic) | 9783709118832 |
| ISBN (Print) | 9783709118825 |
| DOIs | |
| Publication status | Published - 1 Jan 2015 |
| Externally published | Yes |
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
- MYH6
- Mesoderm
- Myocardium
- NFATC1
- NFATC1
- NKX2-5
- TGA
- Transposition of the great arteries
- Tricuspid atresia
- Trisomy 13
- Trisomy 18
- Univentricular heart
- VSD
- Ventricular septal defect
- ZFPM2