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Hypertrophic cardiomyopathy

Last reviewed: 14 Apr 2025
Last updated: 01 May 2025

Summary

Definition

History and exam

Key diagnostic factors

  • family history of HCM
  • history of presyncope or syncope
  • systolic ejection murmur
  • left ventricular lift (heave)
  • double apical impulse or double carotid pulsation
  • family history of sudden death
Full details

Other diagnostic factors

  • younger male (<50 years)
  • dyspnea
  • angina
  • palpitations
  • irregularly irregular pulse
  • older female (>50 years)
  • collapse
  • fourth heart sound
Full details

Risk factors

  • family history of HCM or sudden cardiac death
Full details

Diagnostic tests

1st tests 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
Full details

Tests to consider

  • exercise ECG
  • Holter monitoring
  • nuclear imaging exercise test
  • cardiac magnetic resonance (CMR)
  • cardiac computed tomography (CT)
  • CT coronary arteriography
  • cardiac catheterization
  • stress echocardiography
  • exercise echocardiography
  • transesophageal echocardiography
  • endomyocardial biopsy
  • genetic mutation analysis
Full details

Treatment algorithm

ONGOING

asymptomatic

symptomatic: left ventricular outflow tract obstruction (LVOTO) with preserved systolic function (ejection fraction ≥50%)

symptomatic: nonobstructive with preserved systolic function (ejection fraction ≥50%)

symptomatic: with systolic dysfunction (ejection fraction <50%)

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

Our in-house evidence and editorial teams collaborate with international expert contributors and peer reviewers to ensure that we provide access to the most clinically relevant information possible.

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 to users with access to all of BMJ Best Practice.
  • Hypertrophic cardiomyopathy images
  • Differentials

    • Athlete's heart
    • Discrete subaortic stenosis
    • LVH due to hypertension
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  • Guidelines

    • 2024 AHA/ACC/AMSSM/HRS/PACES/SCMR guideline for the management of hypertrophic cardiomyopathy
    • 2023 ESC Guidelines for the management of cardiomyopathies
    More Guidelines
  • Videos

    Fourth heart sound gallop

    More videos
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