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Updated: Dec 6, 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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Hypertrophic Cardiomyopathy 2020

James Kogut1, Eric D Popjes2

  • 1PennState Health Milton S. Hershey Medical Center, 500 University Drive, Hershey, PA, 17033, USA.

Current Cardiology Reports
|October 7, 2020
PubMed

Insights

Hypertrophic cardiomyopathy (HCM) is a complex heart condition. While mortality is low, symptoms from left ventricular outflow tract (LVOT) obstruction are challenging, with new therapies showing promise.

Area of Science:

  • Cardiology
  • Genetics
  • Internal Medicine

Background:

  • Hypertrophic cardiomyopathy (HCM) is a primary genetic heart muscle disease.
  • It is characterized by unexplained left ventricular hypertrophy (LVH).
  • HCM presents with diverse clinical manifestations and variable outcomes.

Purpose of the Study:

  • To review the pathophysiology and natural history of HCM.
  • To describe diagnostic and assessment strategies for HCM.
  • To outline contemporary management approaches for HCM.

Main Methods:

  • Literature review of pathophysiology, natural history, diagnosis, and management.
  • Analysis of current therapeutic options, including medical and interventional approaches.
  • Inclusion of recent clinical trial data on novel therapies.

Main Results:

  • HCM-related mortality is low, but symptoms, particularly from LVOT obstruction, persist.
  • Medical therapies, including novel myosin modulators like mavacamten, show potential in reducing symptoms.
  • Septal reduction therapy and advanced treatments are viable for refractory cases.

Conclusions:

  • HCM is a heterogeneous disease with generally good long-term survival.
  • Symptomatic management is key, with various medical and procedural options available.
  • Ongoing research, including novel drug development, aims to improve functional capacity and outcomes.
Abstract

Keywords:
Clinical heterogeneityInherited cardiomyopathyLeft ventricular hypertrophyLeft ventricular outflow obstructionSeptal reduction therapySudden cardiac death

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