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Updated: Oct 8, 2025

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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A complex unit for a complex disease: the HCM-Family Unit

Olga Vriz1, Hani AlSergani1, Ahmed Nahid Elshaer2

  • 1Department of Cardiology, King Faisal Specialist Hospital and Research Center, Riyadh. olgavriz@yahoo.com.

Monaldi Archives for Chest Disease = Archivio Monaldi Per Le Malattie Del Torace
|December 29, 2021
PubMed

Insights

Hypertrophic cardiomyopathy (HCM), a rare inherited heart condition, may be more prevalent in Saudi Arabia due to consanguinity. This paper outlines diagnostic approaches and proposes a specialized multidisciplinary team for improved patient care.

Area of Science:

  • Cardiology
  • Genetics
  • Public Health

Background:

  • Hypertrophic cardiomyopathy (HCM) is a heritable cardiac disorder with variable clinical presentations.
  • Consanguinity in Saudi Arabia may lead to a higher incidence of undiagnosed HCM cases.
  • Current management strategies require a systematic approach tailored to genetic subtypes.

Purpose of the Study:

  • To outline a systematic diagnostic and management approach for Hypertrophic Cardiomyopathy (HCM) patients.
  • To highlight the impact of genetic subtypes on clinical presentation, management, and prognosis.
  • To propose a specialized multidisciplinary HCM-Family Unit in Saudi Arabia, integrated with international expertise.

Main Methods:

  • Review of current literature on HCM diagnosis and management.
  • Analysis of genetic factors influencing HCM phenotypes.
  • Proposal for a collaborative healthcare model involving Saudi and European centers.

Main Results:

  • HCM diagnosis requires consideration of diverse clinical and genetic factors.
  • Genetic variations significantly influence disease progression and treatment response.
  • A structured, multidisciplinary approach enhances patient outcomes.

Conclusions:

  • A systematic approach, considering genetic heterogeneity, is crucial for effective HCM management.
  • Establishing a dedicated HCM-Family Unit in Saudi Arabia can improve care coordination.
  • International collaboration, like with ERN GUARD-Heart, can advance HCM research and treatment.

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