Related Experiment Video

Updated: Mar 27, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

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Genetic and Clinical Characterization of a South-Brazilian Hypertrophic Cardiomyopathy Cohort

Thais Beuren1,2, Fernando Scolari1,3, Fernanda Sperb-Ludwig1,3

  • 1Universidade Federal do Rio Grande do Sul, Porto Alegre, RS - Brasil.

Arquivos Brasileiros De Cardiologia
|March 25, 2026
PubMed

Insights

This study provides the first genetic and clinical insights into hypertrophic cardiomyopathy (HCM) in Brazil. Genetic testing is crucial for diagnosing and managing this common inherited heart disease.

Area of Science:

  • Cardiology
  • Genetics
  • Precision Medicine

Background:

  • Hypertrophic cardiomyopathy (HCM) is a prevalent monogenic heart disease with known genetic and phenotypic variability.
  • Existing research on HCM predominantly focuses on North American and European populations, leaving a data gap for Brazilian cohorts.

Purpose of the Study:

  • To conduct a comprehensive genetic and clinical characterization of hypertrophic cardiomyopathy (HCM) patients and their relatives in Southern Brazil.
  • To leverage massive parallel sequencing for identifying genetic variants associated with HCM in this underrepresented population.

Main Methods:

  • An observational study involving HCM patients and first-degree relatives from Southern Brazilian cardiology clinics.
  • Clinical and imaging data collection, coupled with next-generation sequencing using a 100-gene panel.
  • Variant pathogenicity assessment following American College of Medical Genetics and Genomics guidelines.

Main Results:

  • Eighty individuals (40 index cases, 40 relatives) were analyzed, with pathogenic or likely pathogenic variants found in 68% of participants.
  • MYH7 and MYBPC3 were the most frequently implicated genes, identified in 33% and 16% of participants, respectively.
  • Exploratory findings suggested potential genotype-phenotype correlations, with MYH7 carriers showing more left ventricular outflow tract obstruction and MYBPC3 carriers experiencing more arrhythmias.

Conclusions:

  • This research presents the inaugural detailed genetic and clinical profile of a hypertrophic cardiomyopathy (HCM) cohort in Brazil, utilizing massive parallel sequencing.
  • The findings highlight the critical role of genetic testing in the accurate diagnosis, risk stratification, and effective management of HCM patients.
Abstract

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