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Updated: Mar 15, 2026

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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Evolution of hypertrophic cardiomyopathy in sarcomere mutation carriers

Carolyn Y Ho1, Allison L Cirino1, Neal K Lakdawala1

  • 1Cardiovascular Division, Brigham and Women's Hospital, Boston, Massachusetts, USA.

Heart (British Cardiac Society)
|September 4, 2016
PubMed

Insights

Early signs of hypertrophic cardiomyopathy (HCM) in sarcomere mutation carriers include abnormal LV relaxation and elevated NT-proBNP. These markers predict progression, with left ventricular hypertrophy stabilizing around two years post-onset.

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • The natural history and progression of sarcomere mutations to hypertrophic cardiomyopathy (HCM) are not well understood.
  • Identifying early indicators of disease progression is crucial for timely intervention.

Purpose of the Study:

  • To characterize the early phenotypic progression of sarcomere mutation carriers.
  • To compare mutation carriers who developed HCM with those who did not during a prospective longitudinal study.

Main Methods:

  • A pilot clinical trial cohort of 38 sarcomere mutation carriers without baseline left ventricular hypertrophy (LVH) was analyzed.
  • Participants were followed for a median of 2.9 years with imaging and biomarker analysis.
  • Four participants who developed HCM were compared to those without phenotypic progression.

Main Results:

  • Individuals who developed HCM were children/adolescents with highly penetrant mutations.
  • At baseline, these individuals had higher LV ejection fraction, lower E' velocity, elevated NT-proBNP, longer mitral leaflets, and more ECG abnormalities.
  • During follow-up, these parameters diverged, while LV wall thickness stabilized.

Conclusions:

  • Abnormal LV relaxation, ECG changes, mitral leaflet length, and NT-proBNP levels at baseline indicate imminent progression to HCM in preclinical carriers.
  • Left ventricular hypertrophy (LVH) appears to stabilize approximately two years after its onset.
  • Further research is necessary to fully elucidate the disease's evolutionary mechanisms.
Abstract

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