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EJHF expert consensus statement on the diagnosis and management of hypertrophic cardiomyopathy
Benjamin Meder1,2,3, Caroline J Coats4, Leslie A Leinwand5,6
1Department of Cardiology, Angiology and Pulmonology, Institut für Cardiomyopathien Heidelberg, University of Heidelberg, INF 410, Im Neuenheimer Feld 410, Heidelberg 69120, Germany.
Insights
Hypertrophic cardiomyopathy (HCM), a common genetic heart condition, requires updated guidance. This consensus document offers expert consensus on diagnosis, risk stratification, and treatment, including novel therapies for HCM management.
Area of Science:
- Cardiology
- Genetics
- Internal Medicine
Background:
- Hypertrophic cardiomyopathy (HCM) is the most common genetic heart disease.
- It is a leading cause of heart failure, arrhythmia, and sudden cardiac death.
- Existing guidelines require further clinical interpretation and guidance.
Purpose of the Study:
- To provide a consensus document on Hypertrophic Cardiomyopathy (HCM).
- To address areas needing further clinical guidance beyond current guidelines.
- To consolidate expert opinion on diagnosis, risk stratification, and management of HCM.
Main Methods:
- Multidisciplinary expert panel review.
- Alignment with European Society of Cardiology (ESC) and American Heart Association/American College of Cardiology (AHA/ACC) guidelines.
- Inclusion of phenotypic classification, diagnostic strategies, and therapeutic pathways.
Main Results:
- Comprehensive review of diagnostic strategies, including imaging and genetic testing.
- Detailed outline of pharmacologic treatments (e.g., beta-blockers, myosin inhibitors) and septal reduction therapies.
- Discussion of management for associated conditions like atrial fibrillation and hypertension.
Conclusions:
- The consensus addresses current controversies in HCM management.
- It provides guidance on genotype-positive/phenotype-negative individuals and exercise recommendations.
- Future directions include gene therapy, precision medicine, AI, and novel biomarkers for HCM.
Abstract:
Hypertrophic cardiomyopathy (HCM) is the most prevalent genetic cardiac disease and a leading cause of heart failure, arrhythmia, and sudden cardiac death in both young and older adults. This consensus document was developed by a multidisciplinary panel of European and U.S. experts in HCM, imaging, electrophysiology, genetics, and heart failure. While it aligns with the 2023 ESC and 2024 AHA/ACC guidelines on HCM, the paper addresses areas where clinicians might require further guidance. Key sections include phenotypic classification, diagnostic strategies incorporating multimodal imaging and genetic testing, and risk stratification for sudden cardiac death. The document outlines therapeutic pathways for pharmacologic treatment, including beta-blockers, calcium channel blockers, disopyramide, and cardiac myosin inhibitors such as mavacamten and aficamten, as well as indications for septal reduction therapies. Management of atrial fibrillation, hypertension, coronary artery disease, pregnancy, paediatric HCM, and comorbidities is discussed in detail. Importantly, the consensus addresses current controversies including optimal risk stratification models, the care of genotype-positive/phenotype-negative individuals, and exercise recommendations. Finally, the manuscript highlights future directions such as gene therapy, precision medicine approaches, use of artificial intelligence and novel biomarkers for screening and diagnosis.
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