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Uncovering the Genetic Basis of Congenital Heart Disease: Recent Advancements and Implications for Clinical Management.


ABSTRACT: Congenital heart disease (CHD) is the most prevalent hereditary disorder, affecting approximately 1% of all live births. A reduction in morbidity and mortality has been achieved with advancements in surgical intervention, yet challenges in managing complications, extracardiac abnormalities, and comorbidities still exist. To address these, a more comprehensive understanding of the genetic basis underlying CHD is required to establish how certain variants are associated with the clinical outcomes. This will enable clinicians to provide personalized treatments by predicting the risk and prognosis, which might improve the therapeutic results and the patient's quality of life. We review how advancements in genome sequencing are changing our understanding of the genetic basis of CHD, discuss exp

SUBMITTER: Chhatwal K 

PROVIDER: S-EPMC10777202 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature