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High-risk genes involved in common septal defects of congenital heart disease

S Chaithra1, Swati Agarwala1, N B Ramachandra1

  • 1Department of Studies in Genetics and Genomics, University of Mysore, Manasagangotri, Mysuru 570 006, India.

Gene
|July 21, 2022
PubMed

Insights

This study identifies GATA4 and MYH6 as high-risk genes contributing to congenital heart septation defects. Genetic variations in these genes were found in patients with ventricular septal defects, aiding understanding of heart development.

Area of Science:

  • Genetics
  • Cardiology
  • Developmental Biology

Background:

  • Congenital heart disease (CHD) encompasses septation defects like atrial septal defect (ASD), ventricular septal defect (VSD), and atrioventricular septal defect (AVSD).
  • Genetic factors critically influence heart development, and their disruption leads to CHD.
  • Identifying high-risk genes is crucial for understanding the etiology of septal defects.

Purpose of the Study:

  • To identify high-risk genes associated with common septal defects in congenital heart disease.
  • To validate identified genes using genetic data from Indian patient samples.

Main Methods:

  • Comprehensive literature search and WebGestalt analysis to identify potential high-risk genes.
  • In silico validation of candidate genes using whole-exome sequencing data from 16 Indian samples (13 VSD, 3 Tetralogy of Fallot).

Main Results:

  • Three variations in the GATA4 gene (c.C1223A, c.C602A, c.C1220A) and one variation in the MYH6 gene (c.G3883C) were identified.
  • These variations were found in two cases of ventricular septal defects (VSD).
  • Findings support GATA4 and MYH6 as significant risk genes for septal defects.

Conclusions:

  • GATA4 and MYH6 are confirmed as high-risk genes implicated in the pathogenesis of septal defects.
  • This research enhances the understanding of genetic contributions to heart development and septal defect formation.
  • Further investigation into interacting proteins within these genetic pathways is warranted.

Keywords:
Atrial septal defectAtrioventricular septal defectCongenital heart diseaseSeptal defect genesVentricular septal defect

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