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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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Hypertrophic cardiomyopathy

Maully Shah1

  • 1Department of Pediatrics,Perelman School of Medicine,University of Pennsylvania,Philadelphia,Pennsylvania,United States of America.

Cardiology in the Young
|January 14, 2017
PubMed

Insights

Hypertrophic cardiomyopathy (HCM) is a common inherited heart condition. While advances improve outcomes, preventing sudden cardiac death in young individuals with HCM remains a challenge.

Area of Science:

  • Cardiology
  • Genetics
  • Pediatrics

Background:

  • Hypertrophic cardiomyopathy (HCM) is a prevalent genetic heart disorder.
  • It presents with varied clinical features and disease progression.
  • Sudden cardiac death (SCD) is a significant concern, particularly in young individuals.

Purpose of the Study:

  • To review key aspects of hypertrophic cardiomyopathy in the young.
  • To discuss epidemiology, clinical presentations, and risk factors.
  • To explore strategies for preventing sudden cardiac death and managing athletic participation.

Main Methods:

  • Literature review and synthesis of current knowledge.
  • Analysis of epidemiological data and clinical phenotypes.
  • Evaluation of risk stratification and management guidelines.

Main Results:

  • HCM affects young individuals with diverse clinical manifestations.
  • Risk factors for adverse events, including sudden cardiac death, are identifiable.
  • Advances in diagnosis and treatment have reduced adverse events but not eliminated SCD.

Conclusions:

  • Comprehensive understanding of HCM in youth is crucial for effective management.
  • Risk stratification and targeted prevention strategies are essential.
  • Careful consideration of athletic participation is necessary for affected young individuals.

Keywords:
Hypertrophic cardiomyopathyathleteschildrensudden death

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