Associations of Pathogenic Sequence Variants and Copy Number Variants with Cardiovascular and Major Clinical Outcomes in Adults with Congenital Heart Disease

Background: Genetic abnormalities contribute to the phenotypic heterogeneity of congenital heart disease, yet their prognostic significance in adults with congenital heart disease remains incompletely understood. We examined the associations of pathogenic sequence variants and copy number variants (CNVs) with cardiovascular and major clinical outcomes in ACHD. Methods: In this prospective observational cohort study, 1,000 adults with structurally confirmed CHD were recruited from a tertiary care center in Noida, India, between January 2022 and January 2026 and followed through August 2026. Par

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