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Editorial

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

Fernando Rabioglio Giugni

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.

[…]

  • Diagnostic Yield
  • Genetic Variants
  • Hypertrophic Cardiomyopathy
  • Sarcomere
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Creative Commons Attribution (CC BY) Creative Commons license
08/05/2026 DOI: 10.36660/abc.20260157i

How to cite this article

EndNote RIS

Electronic Document Format (Vancouver)

Giugni FR. Genetic Testing in Hypertrophic Cardiomyopathy: Expanding Global Representation While Refining Interpretation. Arquivos Brasileiros de Cardiologia 2026;123(2):e20260157.

Electronic Document Format (ABNT)

Giugni, Fernando Rabioglio. Genetic Testing in Hypertrophic Cardiomyopathy: Expanding Global Representation While Refining Interpretation. Arquivos Brasileiros de Cardiologia, v. 123, n. 2, e20260157, May. 2026.

Electronic Document Format (APA)

Giugni, F. R. (2026). Genetic Testing in Hypertrophic Cardiomyopathy: Expanding Global Representation While Refining Interpretation. Arquivos Brasileiros de Cardiologia, 123(2), e20260157.

Electronic Document Format (ISO)

Giugni, Fernando Rabioglio. Genetic Testing in Hypertrophic Cardiomyopathy: Expanding Global Representation While Refining Interpretation. Arquivos Brasileiros de Cardiologia [online]. 2026, vol. 123, n. 2, [cited 2026-10-14], e20260157. Available from: <https://journals.cardiol.br/en/article/genetic-testing-in-hypertrophic-cardiomyopathy-expanding-global-representation-while-refining-interpretation/>. ISSN 0066-782X

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