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Published on: March 10, 2020
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.
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.
Abstract:
Congenital heart diseases (CHDs) are a group of complex diseases characterized by structural and functional malformations during development in the human heart; they represent an important problem for public health worldwide. Within these malformations, septal defects such as ventricular (VSD) and atrial septal defects (ASD) are the most common forms of CHDs. Studies have reported that CHDs are the result of genetic and environmental factors. Here, we review and summarize the role of genetics involved in cardiogenesis and congenital cardiac septal defects. Moreover, treatment regarding these congenital cardiac septal defects is also addressed.
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