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Hypertrophic cardiomyopathy

  • Overview
  • Theory
  • Diagnosis
  • Management
  • Follow up
  • Resources
最后审阅： 19 Aug 2025
最后更新： 01 May 2025

小结

定义

病史和体格检查

关键诊断因素

  • 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
完整详情

其他诊断因素

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

危险因素

  • family history of HCM or sudden cardiac death
完整详情

诊断性检查

首要检查

  • 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
完整详情

需考虑的检查

  • 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
完整详情

治疗流程

持续性治疗

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%)

撰稿人

作者

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

利益声明

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.

鸣谢

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.

利益声明

MM, MDE, and ATY declare that they have no competing interests.

同行评议者

Radhika Kuna, MD

Fellow

Division of Cardiology

University of Maryland Medical Center

Baltimore

MD

利益声明

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.

Peer reviewer acknowledgements

BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.

Disclosures

Peer reviewer affiliations and disclosures pertain to the time of the review.

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
    More Differentials

  • 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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