Factors Affecting the Genetic Diagnostic Rate in Congenital Heart Disease

Background: Over 400 genes contribute to the development of congenital heart disease (CHD). Additionally, multisystemic manifestations accompanying syndromic CHD pose a higher risk genetic diseases. This study investigated diagnostic yield whole-exome sequencing (WES) in patients with sporadic and phenotypic factors affecting rate. Methods: Sixty-four aged 0.05), between groups without variant. However, ≥3 extracardiac phenotypes had significantly likelihood having variant than those ≤2 (38.3% vs. 5.9%, odds ratio = 9.93, 95% confidence interval 1.21–81.44, P 0.013). Conclusions: The number is important predicting possibility diagnosis. Physicians will be able select high probability diagnosis provide appropriate counseling based on results this study.