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Comprehensive evaluation of hypertrophic cardiomyopathy: European Journal of Heart Failure expert consensus document

Pieter Martens1, Iacopo Olivotto2, Pablo Garcia-Pavia3,4

  • 1Ziekenhuis Oost Limburg, synapspark 1, 3600 Genk, Belgium - University Hasselt, 3500 Hasselt, Belgium.

European Journal of Heart Failure
|March 12, 2026
PubMed

Insights

Hypertrophic cardiomyopathy (HCM) care requires a structured, six-pillar framework for diagnosis, risk stratification, and management. This approach optimizes treatment and improves outcomes for patients with this inherited cardiac disease.

Area of Science:

  • Cardiology
  • Genetics
  • Internal Medicine

Background:

  • Hypertrophic cardiomyopathy (HCM) is a primary inherited cardiac condition and a significant cause of heart failure and sudden cardiac death (SCD) in young individuals.
  • Its complex nature, varied presentations, and evolving treatments necessitate a standardized, multidisciplinary care model.

Purpose of the Study:

  • To introduce a six-pillar framework for standardizing and enhancing the evaluation and management of hypertrophic cardiomyopathy.
  • To provide a structured approach to HCM care, encompassing diagnosis, symptom assessment, risk stratification, genetic evaluation, comorbidity management, and lifestyle guidance.

Main Methods:

  • The framework integrates diagnostic modalities like multimodal imaging and genetic testing to differentiate HCM from phenocopies.
  • It emphasizes dynamic assessment of symptoms and left ventricular outflow tract obstruction (LVOTO), incorporating exercise echocardiography.
  • Risk stratification for SCD utilizes integrated risk scores and imaging data, alongside genetic evaluation for family cascade testing and management of comorbidities.

Main Results:

  • The proposed framework organizes HCM care into six essential domains: diagnosis, symptom and LVOTO assessment, SCD risk stratification, genetic evaluation, comorbidity management, and education/lifestyle guidance.
  • Accurate diagnosis involves differentiating sarcomeric HCM from phenocopies using advanced imaging and genetic testing.
  • Management strategies include pharmacotherapy, septal reduction therapy, ICD decisions, and addressing comorbidities like atrial fibrillation and hypertension.

Conclusions:

  • A standardized six-pillar framework offers a structured, multidisciplinary approach to optimize hypertrophic cardiomyopathy care.
  • This model facilitates accurate diagnosis, effective risk stratification, personalized treatment, and comprehensive management of HCM patients.
  • Implementing this framework can lead to improved patient outcomes and better management of this complex inherited cardiac disease.

Keywords:
Cardiac myosin inhibitorsGenetic testingHypertrophic cardiomyopathyLeft ventricular outflow tract obstructionMultidisciplinary care

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