Summary
Definition
History and exam
Key diagnostic factors
- family history of HCM
- history of pre-syncope or syncope
- systolic ejection murmur
- left ventricular lift (heave)
- double apical impulse or double carotid pulsation
- family history of sudden death
Other diagnostic factors
- younger male (<50 years)
- dyspnoea
- angina
- palpitations
- irregularly irregular pulse
- older female (>50 years)
- collapse
- fourth heart sound
Diagnostic investigations
1st investigations to order
- ECG
- creatine kinase (CK)
- liver function tests
- renal function tests
- N-terminal pro-brain natriuretic peptide (NT-proBNP)
- troponin
- urinalysis
- CXR
- transthoracic echocardiography with Doppler
Investigations to consider
- exercise ECG
- Holter monitoring
- nuclear imaging exercise test
- cardiac magnetic resonance (CMR)
- cardiac computed tomography (CT)
- CT coronary arteriography
- cardiac catheterisation
- stress echocardiography
- exercise echocardiography
- trans-oesophageal echocardiography
- endomyocardial biopsy
- genetic mutation analysis
Treatment algorithm
Contributors
Authors
Theodore Abraham, MD
Professor of Medicine and Radiology
Meyer Friedman Distinguished Professor of Medicine
Co-director, UCSF HCM Center of Excellence
University of California
San Francisco
CA
Disclosures
TA serves as a steering committee member/local investigator and his institution has received research funding for hypertrophic cardiomyopathy-related clinical trials sponsored by Bristol Myers Squibb; Cytokinetics Inc.; Tenaya Pharmaceuticals; and Imbria Pharmaceuticals.
Acknowledgements
Dr Theodore Abraham would like to gratefully acknowledge Dr Monica Mukherjee, Dr Melanie D. Everitt, and Dr Anji T. Yetman, previous contributors to this topic.
Disclosures
MM, MDE, and ATY declare that they have no competing interests.
Peer reviewers
Radhika Kuna, MD
Fellow
Division of Cardiology
University of Maryland Medical Center
Baltimore
MD
Disclosures
RK declares that she has no competing interests.
Saidi Mohiddin, BSc, MBChB
Consultant Cardiologist/Head of Unit
Heart Muscle Disease Unit
Barts and The London NHS Trust
London
UK
Disclosures
SM declares that he has no competing interests.
References
Key articles
Arbelo E, Protonotarios A, Gimeno JR, et al. 2023 ESC Guidelines for the management of cardiomyopathies. Eur Heart J. 2023 Oct 1;44(37):3503-626.Full text Abstract
Writing Committee Members, Ommen SR, Ho CY, et al. 2024 AHA/ACC/AMSSM/HRS/PACES/SCMR guideline for the management of hypertrophic cardiomyopathy: a report of the American Heart Association/American College of Cardiology Joint Committee on clinical practice guidelines. J Am Coll Cardiol. 2024 Jun 11;83(23):2324-405.Full text Abstract
Richard P, Charron P, Carrier L, et al. Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation. 2003 May 6;107(17):2227-32. [Erratum in: Circulation. 2004 Jun 29;109(25):3258.]Full text Abstract
O'Mahony C, Jichi F, Pavlou M, et al. A novel clinical risk prediction model for sudden cardiac death in hypertrophic cardiomyopathy (HCM risk-SCD). Eur Heart J. 2014 Aug 7;35(30):2010-20.Full text Abstract
Pelliccia A, Sharma S, Gati S, et al. 2020 ESC guidelines on sports cardiology and exercise in patients with cardiovascular disease. Eur Heart J. 2021 Jan 1;42(1):17-96.Full text Abstract
Reference articles
A full list of sources referenced in this topic is available here.
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