Identifying Pathogenic Variants in Vietnamese Children with Functional Single Ventricle Based on Whole-Exome...

Area of Science:

• Genetics
• Cardiology
• Developmental Biology

Background:

• Functional single ventricle (FSV) is a complex congenital heart disease (CHD) with multifactorial etiology.
• Identifying specific pathogenic factors for FSV is challenging, hindering effective interventions and prevention.

Purpose of the Study:

• To identify genetic variants associated with functional single ventricle (FSV) using whole-exome sequencing.
• To understand the genetic underpinnings of FSV to inform treatment and prevention.

Main Methods:

• Whole-exome sequencing (WES) was conducted on 29 patients with functional single ventricle (FSV).
• Analysis focused on identifying heterozygous variants in CHD-associated genes.

Main Results:

• Ninety-five heterozygous variants across 48 CHD-associated genes were identified in FSV patients.
• Key genes with variants include AXIN1, BMP2, GATA4, MYH6, NOTCH1, and TBX genes, among others.
• Variants in COL6A1, CREBBP, MYBPC3, and MYH7 were associated with FSV phenotypes like septal defects and great artery transposition.

Conclusions:

• This is the first study to report genetic variants linked to functional single ventricle (FSV).
• The identified variants offer insights into the genetic causes of FSV.
• Findings can guide the development of targeted treatment and prevention strategies for FSV.