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NKX2-5 and Congenital Heart Disease 

NKX2-5 and Congenital Heart Disease
Chapter:
NKX2-5 and Congenital Heart Disease
Author(s):

Avihu Z. Gazit

, Susan N. Foerster

, and Patrick Y. Jay

DOI:
10.1093/med/9780199934522.003.0102
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date: 28 February 2021

Nkx2-5 is a homeodomain-containing transcription factor that is required for normal embryonic cardiac development (see Chapter 10). Loss of the homologous gene tinman in Drosophila results in absence of the dorsal vessel, the fly equivalent of the heart. A homozygous null mutation of Nkx2-5 in mouse causes arrest of cardiac development during looping of the heart tube and embryonic lethality. The heterozygous null mutation in mice replicates some of the defects observed in humans. The first reported patients had a familial syndrome of atrial septal defect (ASD) and atrioventricular (AV) conduction block. Additional mutations have been discovered in a wide range of congenital heart defects, including ventricular septal defect (VSD), tetralogy of Fallot, hypoplastic left heart syndrome, and Ebstein malformation of the tricuspid valve. Mutations of Nkx2-5 are also associated with deleterious effects on cardiac rhythm and function in some patients. The diagnosis and management of such patients are discussed. Finally, mouse models and biochemical experiments suggest that developmental pathogenesis involves numerous molecular interactions between Nkx2-5, modifier genes, other transcription factors, and gene-regulatory sequences. The many interactions and subtle hemodynamic variables likely influence the spectrum of cardiac phenotypes associated with Nkx2-5 mutations.

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