Progresses in genetic testing in congenital heart disease

Abstract

Congenital heart disease (CHD) encompasses a range of structural malformations affecting the heart and major blood vessels present at birth. The genetic underpinnings of CHD have long been recognized as pivotal, facilitated by a deeper molecular understanding of cardiogenesis. Various genetic variants, including single nucleotide variations, structural variations, and chromosomal abnormalities, have been identified in association with both syndromic and non-syndromic CHD. As genetic technologies evolve and improve, the application of genetic testing in CHD patients promises to yield valuable insights for both clinical practice and basic science. With the advancement of cohort studies, genomic data on these variations can be robustly collected and classified according to their pathogenicity, thereby enhancing our understanding of CHD genetics. Numerous tools have been developed to interpret variants identified in both coding and non-coding regions through genetic testing, providing substantial reference points for clinical decision-making in CHD management. The integration of genetic testing stands to benefit CHD management across various fronts, including diagnosis, prognosis prediction, and recurrence risk estimation. A thorough understanding of the genetic investigations and clinical practices related to CHD genetics is essential for the advanced application of genetic testing in CHD cases. By leveraging this knowledge, healthcare professionals can effectively incorporate genetic testing into the broader framework of CHD care, ultimately improving patient outcomes and advancing our understanding of these complex conditions.