Genetic Insights into Congenital Cardiac Septal Defects-A Narrative Review

Jorge L Cervantes-Salazar1, Nonanzit Pérez-Hernández2, Juan Calderón-Colmenero3

  • 1Department of Pediatric Cardiac Surgery and Congenital Heart Disease, Instituto Nacional de Cardiología Ignacio Chávez, Mexico City 14080, Mexico.

Biology
|November 27, 2024
PubMed

Insights

Congenital heart diseases (CHDs), including common septal defects like ventricular (VSD) and atrial septal defects (ASD), arise from genetic and environmental factors. This review covers genetics in heart development and treatments for these conditions.

Area of Science:

  • Cardiology
  • Developmental Biology
  • Genetics

Background:

  • Congenital heart diseases (CHDs) are prevalent, complex conditions affecting heart development.
  • Septal defects, specifically ventricular septal defects (VSD) and atrial septal defects (ASD), are the most common CHDs.
  • CHDs result from intricate interactions between genetic and environmental influences.

Purpose of the Study:

  • To review and summarize the genetic factors influencing cardiogenesis.
  • To elucidate the genetic basis of congenital cardiac septal defects (VSDs and ASDs).
  • To address current and emerging treatment strategies for these conditions.

Main Methods:

  • Comprehensive literature review of genetic and developmental studies.
  • Analysis of research on the etiology of congenital heart defects.
  • Synthesis of information on therapeutic interventions for septal defects.

Main Results:

  • Genetics plays a critical role in normal heart formation and the development of septal defects.
  • Identified key genes and pathways implicated in cardiogenesis and CHD pathogenesis.
  • Outlined various treatment modalities, from surgical repair to potential future therapies.

Conclusions:

  • Understanding the genetic underpinnings of CHDs is crucial for diagnosis and treatment.
  • Genetic and environmental factors interact to cause septal defects.
  • Continued research into genetics and treatment is vital for improving outcomes in congenital heart disease.