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Related Experiment Video

Updated: Jan 11, 2026

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Hypertrophic cardiomyopathy: a systematic review.

Barry J Maron1

  • 1Minneapolis Heart Institute Foundation, 920 E 28th St, Suite 60, Minneapolis, MN 55407, USA. hcm.maron@mhif.org

JAMA
|March 12, 2002
PubMed
Summary

Hypertrophic cardiomyopathy (HCM) is a common genetic heart disease with varied presentations and outcomes. While it can cause sudden death in young individuals, many patients experience normal longevity with appropriate management.

Area of Science:

  • Cardiology
  • Genetics
  • Internal Medicine

Background:

  • Hypertrophic cardiomyopathy (HCM) is a prevalent genetic cardiac disease affecting 1 in 500 individuals.
  • Caused by mutations in sarcomeric protein genes, HCM presents a wide spectrum of clinical manifestations and outcomes.

Purpose of the Study:

  • To synthesize current knowledge on hypertrophic cardiomyopathy (HCM).
  • To clarify clinical issues and evolving concepts in HCM diagnosis and management.

Main Methods:

  • Systematic literature review of HCM research from 1966-2000.
  • Analysis of prospective, controlled, and evidence-based studies.

Main Results:

  • HCM is a heterogeneous condition with diverse genetic underpinnings, clinical presentations, and prognoses.

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  • It is a leading cause of sudden cardiac death in young individuals and athletes.
  • Diagnosis involves echocardiographic identification of unexplained left ventricular thickening.
  • While annual mortality is around 1%, many patients have normal life expectancy and minimal disability.
  • Treatment strategies include medications for dyspnea, surgical or ablative procedures for outflow obstruction, and implantable cardioverter-defibrillators for sudden death prevention.

    • Conclusions:

    • Significant advancements have been made in understanding HCM's epidemiology, clinical course, and treatment.
    • HCM does not invariably lead to a poor prognosis and can be compatible with normal longevity for many patients.