Gerbode Ventricular Septal Defect –A Rare Cardiac Anomaly Associated with Genetic Variants in Indian Population- A Case Series

Abstract

Gerbode defects are rare Ventricular Septal Defects (VSD) constituting approximately one percent cases of congenital heart diseases. The genetic predispositions towards the Gerbode Defect (GD) have remained an unexplored area of study till date. We investigated the genotype-phenotype correlation in patients with Gerbode VSD. Molecular genetic study on Sanger sequencing and subsequent data analysis showed that the contributing sequence variations in the NKX2-5, GATA4 and TBX5 gene lies in one of the highly conserved regions and this region is responsible for encoding a functional protein. The resulting genotype variation may be responsible for causing the diseased phenotype known as GD.

Keywords

• echocardiography
• single nucleotide polymorphism
• transcriptional gene(s).