Genetic causes of isolated congenital heart disease

Abstract

The genetic mechanism of congenital heart disease (CHD) is complex and currently lacks a clear understanding. Literature studies on CHD often report the presence of concurrent extracardiac anomalies, but since the majority of CHD cases are isolated, presenting only a single cardiac malformation, the etiological mechanisms remain uncertain, especially regarding the genetic aspects. Furthermore, there is a scarcity of case studies focusing on isolated CHD, resulting in a lack of comprehensive research data. Therefore, elucidating the genetic causes of isolated CHD and providing guidance for its clinical treatment holds significant research value in the field of CHD. This article reviews the known genetic causes and potential genetic mechanisms of isolated CHD, as well as provides recommendations for genetic testing in patients with isolated CHD.

Keywords

• congenital heart disease
• isolated
• genetics
• single gene
• copy number variation
• mosaicism
• chromosomal microarray analysis
• whole-exome sequencing