Genetics of congenital heart disease: a narrative review of recent advances and clinical implications.

ABSTRACT: Congenital heart disease (CHD) is the most common human birth defect and remains a leading cause of mortality in childhood. Although advances in clinical management have improved the survival of children with CHD, adult survivors commonly experience cardiac and non-cardiac comorbidities, which affect quality of life and prognosis. Therefore, the elucidation of genetic etiologies of CHD not only has important clinical implications for genetic counseling of patients and families but may also impact clinical outcomes by identifying at-risk patients. Recent advancements in genetic technologies, including massively parallel sequencing, have allowed for the discovery of new genetic etiologies for CHD. Although variant prioritization and interpretation of pathogenicity remain challenges in the fi

SUBMITTER: Yasuhara J 

PROVIDER: S-EPMC8506053 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature