Related Experiment Video

Updated: Jan 15, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

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Phenotyping the Many Faces of Hypertrophic Cardiomyopathy

Paul Geenty1, Belinda Gray2, Liza Thomas3

  • 1Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales 2050, Australia; Department of Cardiology, Westmead Hospital, Westmead, New South Wales 2145, Australia.

Heart Failure Clinics
|October 13, 2025
PubMed

Insights

Hypertrophic cardiomyopathy, an inherited heart condition, presents diverse symptoms. Accurate phenotyping helps identify patient groups for tailored prognosis and sudden cardiac death prevention.

Area of Science:

  • Cardiology
  • Genetics
  • Internal Medicine

Background:

  • Hypertrophic cardiomyopathy (HCM) is the most prevalent inherited cardiomyopathy.
  • It is defined by left ventricular hypertrophy (LVH) ≥15 mm without other causes.
  • HCM exhibits a heterogeneous clinical phenotype.

Purpose of the Study:

  • To emphasize the importance of accurate clinical phenotyping in hypertrophic cardiomyopathy.
  • To highlight the varied clinical manifestations and their impact on prognosis.
  • To underscore the necessity of risk stratification for preventing sudden cardiac death.

Main Methods:

  • Clinical data review.
  • Phenotypic classification of hypertrophic cardiomyopathy patients.
  • Prognostic factor analysis.

Main Results:

  • Identified key clinical manifestations including left ventricular outflow tract obstruction, mitral valve abnormalities, and ventricular arrhythmias.
  • Demonstrated that distinct phenotypic groups have different natural histories.
  • Highlighted the link between specific phenotypes and risk for sudden cardiac death.

Conclusions:

  • Accurate clinical phenotyping is essential for understanding hypertrophic cardiomyopathy.
  • Phenotypic characterization enables better risk stratification and personalized management.
  • Targeted interventions based on phenotype can improve patient outcomes and prevent sudden cardiac death.

Keywords:
Cardiac imagingGenotypeHypertrophic cardiomyopathyPhenotype

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