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Article

Characterising the phenotype and ‍outcomes of cascade-tested relatives of probands with ‍hypertrophic cardiomyopathy.

Open heart - 26 Feb 2026

Chaudhry Wajeeh Raza, McWilliam Catherine, Berg Jonathan, Choy Anna-Maria

Abstract excerpt

OBJECTIVES: Cascade-tested relatives of individuals with pathogenic genetic variants in sarcomere genes causing hypertrophic cardiomyopathy are recommended. Little is known about the outcomes in cascade-identified relatives. We aimed to characterise the endpoints for these individuals. METHODS: A retrospective cohort case note evaluation of 64 families reviewed by NHS Tayside Clinical Genetics between January...

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Identifiers

PMID: 41748278
DOI: 10.1136/openhrt-2025-003557
PMCID: PMC12959071

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