Hypertrophic cardiomyopathy (HCM) is a common inherited cardiac condition, and family screening is a key recommendation in current guidelines. A retrospective study of 1,230 relatives from 531 families screened at inherited cardiomyopathy clinics in Eastern Denmark (2006-2023) revealed a diagnostic yield of 26% at the initial visit, with an additional 4% of relatives developing HCM during a 7-year follow up. Key predictors for HCM development included carrying a likely pathogenic/pathogenic genetic variant (HR: 4.58) and a baseline left ventricular maximum wall thickness (MWT; HR: 2.21 per mm). Among gene-elusive families, an MWT of ≥10 mm was the strongest threshold for predicting HCM risk, as only 0.4% of relatives with an MWT <10 mm developed HCM during follow up.

These findings highlight the value of clinical and genetic screening for identifying at-risk relatives and emphasize the importance of ongoing monitoring, particularly for gene carriers and individuals with an MWT of ≥10 mm. The results may help refine future screening and management guidelines for relatives of HCM patients, ensuring timely intervention and improved outcomes.

Reference: Silajdzija E, Rasmus Vissing C, Basse Christensen E, et al. Family Screening in Hypertrophic Cardiomyopathy: Identification of Relatives With Low Yield From Systematic Follow-Up. J Am Coll Cardiol. 2024;84(19):1854-1865. doi: 10.1016/j.jacc.2024.08.011.