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Hypertrophic Cardiomyopathy: Current Perspectives

Dhruvil Patel1, Ruchika Bhargav1, Aliaa Mousa1

  • 1Department of Cardiology, Rutgers Robert Wood Johnson University Hospital, New Brunswick, NJ 08901, USA.

Reviews in Cardiovascular Medicine
|October 15, 2025
PubMed

Insights

Hypertrophic cardiomyopathy (HCM) is a genetic heart condition affecting 1 in 200-500 people. This review explores its genetic basis, diagnosis via imaging, and novel therapies beyond traditional treatments.

Area of Science:

  • Cardiology
  • Genetics
  • Pathophysiology

Background:

  • Hypertrophic cardiomyopathy (HCM) is a genetic disorder causing left ventricular hypertrophy (LVH).
  • Prevalence estimates range from 1 in 200 to 1 in 500 individuals.
  • Ongoing research identifies new mutations and pathophysiological mechanisms.

Purpose of the Study:

  • To systematically review the genetic and pathophysiological basis of HCM.
  • To explore the role of multimodality imaging in diagnosing and risk-stratifying HCM patients.
  • To examine contemporary management strategies and novel therapies for HCM.

Main Methods:

  • Literature review of genetic and pathophysiological studies on HCM.
  • Analysis of multimodality imaging techniques for HCM diagnosis and risk stratification.
  • Examination of current and emerging therapeutic strategies for HCM.

Main Results:

  • Numerous pathogenic mutations linked to HCM have been identified.
  • Multimodality imaging is crucial for accurate diagnosis and risk stratification.
  • Novel therapies targeting molecular mechanisms offer new treatment avenues.

Conclusions:

  • HCM understanding has evolved, leading to refined definitions and recognition.
  • Advanced imaging and genetic insights improve patient management.
  • Emerging targeted therapies provide alternatives to traditional interventions like myectomy or septal ablation.

Keywords:
aficamtenalcohol septal ablationhypertrophic cardiomyopathymavacamtensudden cardiac deathsurgical myectomy

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