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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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Familial Hypertrophic Cardiomyopathy: Diagnosis and Management

Michael J Litt1, Ayan Ali2, Nosheen Reza1

  • 1Division of Cardiovascular Medicine, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.

Vascular Health and Risk Management
|April 13, 2023
PubMed

Insights

Hypertrophic cardiomyopathy (HCM), a common inherited heart condition, is better understood through advances in imaging and genetics. Modern multidisciplinary care and therapies improve patient outcomes.

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Hypertrophic cardiomyopathy (HCM) is a prevalent inherited cardiac disorder.
  • Over 60 years of research have advanced understanding through imaging and genetics.
  • Multimodality imaging and translational genetics have revolutionized HCM knowledge.

Purpose of the Study:

  • To review the molecular pathophysiology of HCM.
  • To describe clinical presentations and the role of genetic testing.
  • To summarize management strategies for HCM subtypes.

Main Methods:

  • Review of current literature on HCM pathophysiology, genetics, and clinical management.
  • Discussion of diagnostic approaches including genetic testing.
  • Analysis of therapeutic strategies for hemodynamic subtypes.

Main Results:

  • Modern understanding of HCM molecular pathophysiology.
  • Comprehensive overview of clinical presentations and diagnostic roles of genetic testing.
  • Summary of evidence for therapies like ICDs, septal reduction, and myosin inhibitors.

Conclusions:

  • Diagnosis and management are optimized with a multidisciplinary approach.
  • Personalized care and improved outcomes are achievable with current therapies.
  • Advances in understanding and treatment continue to enhance patient care for HCM.

Keywords:
geneticsheart failurehypertrophic cardiomyopathymavacamtenmyosin

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