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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
Summary
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.
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