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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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Changing Demographics in Hypertrophic Cardiomyopathy and Implications for Management: Clinical Research

Barry J Maron1, Ethan J Rowin1, Shray P Ambe1

  • 1HCM Center at Lahey Hospital and Medical Center, Burlington, Mass.

The American Journal of Medicine
|June 1, 2022
PubMed

Insights

Clinicians are seeing hypertrophic cardiomyopathy (HCM) patients who are older and have less severe hypertrophy but more outflow obstruction. This evolving HCM phenotype may require updated diagnostic and treatment approaches.

Area of Science:

  • Cardiology
  • Genetics
  • Internal Medicine

Background:

  • Hypertrophic cardiomyopathy (HCM) is a complex genetic heart disease.
  • Traditional understanding associates HCM with significant left ventricular hypertrophy.

Purpose of the Study:

  • To investigate if the clinical phenotype of hypertrophic cardiomyopathy (HCM) has evolved over time.
  • To compare current HCM patient characteristics with historical data.

Main Methods:

  • Analysis of 3161 consecutive patients with established hypertrophic cardiomyopathy (HCM) between 2003 and 2020.
  • Clinical evaluation and imaging studies were used to assess patient characteristics.

Main Results:

  • Patients are now older (average 56 years) compared to previous cohorts (average 44 years).
  • The frequency of outflow obstruction has increased (46% to 61%).
  • Maximum left ventricular wall thickness has decreased (20.4 mm to 17.5 mm).

Conclusions:

  • The evolving HCM phenotype, characterized by older patients with less hypertrophy but more obstruction, challenges traditional perceptions.
  • Symptomatic obstructive HCM may present with mild septal thickness (<15 mm), necessitating modifications to surgical interventions like myectomy.
  • Changes likely reflect evolving diagnostic practices and increased awareness, rather than a primary shift in disease expression.
Abstract

Keywords:
EchocardiographyHeart failureHypertrophic cardiomyopathyLeft ventricular hypertrophyObstruction

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