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Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

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Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
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Managing cardiomyopathy involves addressing underlying or precipitating causes, treating heart failure with medications, and implementing dietary changes and a balanced exercise and rest regimen.Lifestyle ModificationsCardiomyopathy patients should adopt a low-sodium diet to reduce fluid retention and manage heart failure. A personalized exercise and rest plan helps maintain physical fitness without overstraining the heart. Avoiding alcohol and tobacco is essential to prevent further damage to...
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Restrictive cardiomyopathy (RCM) is a rare heart muscle disease characterized by impaired ventricular filling due to stiffened ventricular walls, leading to significant diastolic dysfunction.EtiologyRestrictive cardiomyopathy can arise from both inherited and acquired diseases, many of which are systemic. It is categorized into four main types: infiltrative, storage, non-infiltrative, and endomyocardial diseases.Infiltrative diseases, such as amyloidosis, lead to RCM by depositing amyloid...
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RoMa: A Cardiopulmonary Exercise Testing Based Risk Tool in Hypertrophic Cardiomyopathy.

Robin Willixhofer1,2, Massimo Mapelli1,2, Nikita Baracchini3,4

  • 1Centro Cardiologico Monzino, IRCCS Milan Italy.

Journal of the American Heart Association
|April 9, 2026
PubMed
Summary
This summary is machine-generated.

The RoMa classification effectively stratifies hypertrophic cardiomyopathy patients by exercise capacity and predicts long-term outcomes. This validation confirms its utility in assessing physiological reserve and guiding clinical decisions for better patient management.

Keywords:
cardiopulmonary exercise testingheart ratehypertrophic cardiomyopathyprognosisstroke volume

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Area of Science:

  • Cardiology
  • Exercise Physiology
  • Genetics

Background:

  • The RoMa classification, using peak heart rate and oxygen pulse from cardiopulmonary exercise testing (CPET), was proposed to stratify hypertrophic cardiomyopathy (HCM) patients by exercise physiological reserve.
  • External validation of the RoMa classification in an independent multicenter HCM cohort was needed to assess its association with long-term clinical outcomes.

Purpose of the Study:

  • To externally validate the RoMa classification in a multicenter cohort of patients with hypertrophic cardiomyopathy.
  • To assess the association of the RoMa classification with long-term clinical outcomes in HCM patients.

Main Methods:

  • Retrospective multicenter cohort study of 292 HCM patients undergoing CPET, naive to disease-specific therapy.
  • Patients were categorized into RoMa I-IV based on predicted heart rate and oxygen pulse.
  • Primary endpoint was a composite of major adverse cardiovascular events, including death, hospitalization, stroke, and interventions.

Main Results:

  • Functional capacity declined hierarchically across RoMa groups (peak oxygen uptake 29.2 to 17.9 mL/kg/min; P-trend <0.001).
  • During ~6 years follow-up, RoMa II-IV independently predicted higher risk for the composite outcome compared to RoMa I (HRs, 3.89-5.37; P<0.05).
  • Genotype, LVEF <50%, male sex, and LVOTO obstruction were not predictive.

Conclusions:

  • The RoMa classification independently predicts long-term, clinically relevant outcomes in hypertrophic cardiomyopathy.
  • This classification may offer a novel approach to risk stratification in HCM, irrespective of left ventricular outflow tract obstruction.