Incremental yield of genetic retesting in hypertrophic cardiomyopathy.

In 508 hypertrophic cardiomyopathy patients with prior negative NGS testing, retesting with an updated panel found HCM-related variants in 9% (46/508), including new and reclassified findings.

• Why it matters: Modern HCM panels expand gene coverage and intronic regions, but the incremental diagnostic value after an initial negative test is unclear. Identifying who benefits most can improve counseling and risk stratification.
• What they did: This multicentre study retested 508 previously negative HCM patients using an updated NGS-based HCM panel. Variant detection was 9%, and multivariable predictors included late gadolinium enhancement, Mayo HCM score, and Toronto HCM score.
• The result: LGE plus Toronto score ≥13 predicted an 80% diagnostic yield, while LGE plus Mayo score ≥4 predicted 50%. These factors may guide prioritization for genetic retesting after a negative result.

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