Genetic insights into congenital heart disease: Prevalence, aetiology and clinical implications

Abstract

Congenital heart disease (CHDs) pose a significant public health burden, impacting nearly 1% of newborns each year. This review focuses on the genetic aspects of CHDs, examining their prevalence, causes and the significant advancements in genetic technologies used for their diagnosis and management. We cover the wide range of CHDs, from minor septal defects to critical conditions like hypoplastic left heart syndrome, and underscore the complex interaction among genetic and environmental influences contributing to these defects. The review stresses the importance of understanding genetic inheritance patterns, especially in families with a history of CHDs, and the essential role of genetic counselling in evaluating familial risk and informing reproductive choices. We also explore the latest developments in genetic technologies, such as genome-wide association studies, single-nucleotide variations and copy number variants, which have greatly improved our ability to pinpoint genetic risk factors for CHDs. These genetic discoveries have important clinical applications, including their use in tailoring treatment plans and enhancing prenatal diagnosis. This review aims to elucidate the genetic architecture of CHDs by integrating findings from recent research, with the goal of enhancing the lives of those affected and their families.

Keywords

congenital heart disease / genetic aetiology / genomic variation analysis

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2025 The Author(s). Clinical and Translational Discovery published by John Wiley & Sons Australia, Ltd on behalf of Shanghai Institute of Clinical Bioinformatics.