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

In 1,000 adults with structurally confirmed congenital heart disease in Noida, India, pathogenic sequence variants and CNVs are linked to higher primary cardiovascular event rates (up to 30.0%).

• Why it matters: Prognostic value of genetic abnormalities in adults with congenital heart disease is unclear, limiting risk stratification for cardiovascular death and major cardiac events.
• What they did: Adults were prospectively followed from January 2022 to August 2026 after exome sequencing and chromosomal microarray, grouped as reference, sequence-variant-only, CNV-only, or dual-positive; time-to-event associations used multivariable Cox regression.
• The result: Sequence-variant-only (HR 1.65, p=0.0455) and CNV-only (HR 1.92, p=0.0360) showed higher risk versus reference, but neither remained significant after Holm adjustment (adjusted p=0.072 for both).

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