AN UPDATE ON THE GENETIC ASPECTS IN CONGENITAL VENTRICULAR SEPTAL DEFECT

Abstract

Ventricular septal defects (VSDs) are the most common type of heart malformation and may occur like a part of a syndrome or as an isolated form. The size of the defect is related to the clinical manifestation, which is determined by the interventricular flow. Reaching for a genetic etiological cause is important for both syndromic and nonsyndromic forms of VSDs, by estimating the overall survival rate and being a part of therapeutic decision in these patients. Other reasons to identify the genetic pathogenesis can include the risk for neurodevelopmental delay, the recurrent risk in the offspring, and possible association with other extracardiac malformations. Identification of the genetic variants using a specific technique can be a challenge and can lead to waste of resources. Additional advantages in genetic testing were brought by next-generation sequencing technique, various testing panels being available in many laboratories.