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<p>Familial hypertrophic cardiomyopathy (HCM) is an inherited genetic disorder that affects the heart muscle. Mutations in sarcomere protein genes are regarded as the primary defect that triggers cardiac remodeling and hypertrophy. <i>MYH7</i> (Myosin Heavy Chain 7) gene mutations are reported as a frequent cause of familial HCM associated with a younger age at onset and poor prognosis, such as sudden cardiac death. Next-generation clinical exome sequencing in two HCM patients of South Asian ancestry revealed a missense ‘likely pathogenic’ variant c.2214&#xa0;C &gt; A, p.Ser738Arg, in the <i>MYH7</i> gene, which was also validated by segregation analysis. This is the first report of the <i>MYH7</i> c.2214&#xa0;C &gt; A variant from any population. Here, we present this variant’s clinical summary and segregation analysis from two HCM probands and their families.</p>

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A Novel Pathogenic Mutation in MYH7 Gene in Two Patients of South Asian Lineage with Hypertrophic Cardiomyopathy

  • 期刊论文

  • 发表日期：

    2026年6月22日

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  • Swasthi S Kumar,
  • Linda Koshy,
  • M. Madhuma,
  • Anjana Subran,
  • Sivadasanpillai Harikrishnan

摘要

Familial hypertrophic cardiomyopathy (HCM) is an inherited genetic disorder that affects the heart muscle. Mutations in sarcomere protein genes are regarded as the primary defect that triggers cardiac remodeling and hypertrophy. MYH7 (Myosin Heavy Chain 7) gene mutations are reported as a frequent cause of familial HCM associated with a younger age at onset and poor prognosis, such as sudden cardiac death. Next-generation clinical exome sequencing in two HCM patients of South Asian ancestry revealed a missense ‘likely pathogenic’ variant c.2214 C > A, p.Ser738Arg, in the MYH7 gene, which was also validated by segregation analysis. This is the first report of the MYH7 c.2214 C > A variant from any population. Here, we present this variant’s clinical summary and segregation analysis from two HCM probands and their families.