Genetic Testing in Hypertrophic Cardiomyopathy: Expanding Global Representation While Refining Interpretation

Hypertrophic cardiomyopathy (HCM) represents a paradigmatic example of how genetics has transformed contemporary cardiovascular medicine. Advances in sequencing technologies over the past two decades have substantially expanded molecular diagnosis, family screening, and risk stratification strategies. However, much of the current evidence derives from North American and European cohorts, with comparatively limited representation of Latin American populations. In this context, studies describing the genetic and clinical characteristics of Brazilian patients are particularly important, both to broaden global understanding of HCM and to support the development of precision cardiology within diverse healthcare settings.

In this issue, Beuren et al. report genetic and phenotypic findings from patients with HCM and their relatives recruited at a tertiary center in southern Brazil. Consistent with prior literature, variants in sarcomeric genes—particularly MYH7 and MYBPC3—accounted for nearly half of the cases. These observations reinforce a central message repeatedly demonstrated across populations: despite substantial genetic heterogeneity, sarcomeric disease remains the dominant biological substrate of HCM.^– Importantly, studies conducted outside traditionally studied populations are essential to ensure equitable implementation of cardiovascular genomics and to understand potential regional variation in genetic architecture.

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