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Genetic testing in cardiomyopathies: do we need to redefine the UK national testing criteria?

Open heart - 21 Jan 2026

Madu Andrew Chisom, Dimarco Anthony David, Hardy-Wallace Amy, Ganapathy Archana, Savage Henry Oluwasefunmi, Dungu Jason N

Abstract excerpt

INTRODUCTION: Inherited cardiac conditions, including dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM), may have a monogenic cause identified through genetic testing (GT). Confirmation of pathogenic gene variants can have important implications for the patient and their relatives. The UK National Genomic Test Directory (NGTD) provides strict criteria on the indications for GT; however, the...

Topics

Humans
Genetic Testing
Female
United Kingdom
Retrospective Studies
Male
Genetic Predisposition to Disease
Middle Aged
Phenotype
Adult
Cardiomyopathies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Cardiomyopathy, Dilated

Cardiomyopathy, Hypertrophic

Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 41565355
DOI: 10.1136/openhrt-2025-003838
PMCID: PMC12829349

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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