Hypertrophic cardiomyopathy

Overview 
Theory 
Diagnosis 
Management 
Follow up 
Resources 

Last reviewed: 27 Nov 2025

Última atualização: 01 May 2025

Hypertrophic cardiomyopathy (HCM) is the most common cardiomyopathy and the most frequent cause of sudden cardiac death in young people.

Presentation varies from asymptomatic to symptoms of heart failure.

Physical examination may be normal at rest. Auscultation along the left sternal border when the patient is standing after a brief period of exercise may elicit a murmur.

Family history may be present. Echocardiography should be used to screen first-degree family members.

Has a benign prognosis in the majority of patients.

Medical therapy with beta-blockers or nondihydropyridine calcium-channel blockers is used in symptomatic patients.

A subset of patients with increased risk for sudden death should undergo defibrillator implantation.

Definição

HCM is a genetic disorder characterized by left ventricular hypertrophy that is not solely explained by abnormal loading conditions.[1] It is a common genetic heart disease globally, as well as a common cause of sudden cardiac death in young people.[2] Given its prevalence in younger patients, HCM is frequently confused with athlete's heart. In older patients, HCM may be misdiagnosed as hypertensive heart disease. Many patients will have no symptoms at the time of diagnosis and will be diagnosed following routine examination or family screening of an affected family member.[1][2]

História e exame físico

Principais fatores diagnósticos

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

Detalhes completos

Outros fatores diagnósticos

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

Detalhes completos

Fatores de risco

family history of HCM or sudden cardiac death

Detalhes completos

Investigações diagnósticas

Primeiras investigações a serem solicitadas

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

Detalhes completos

Investigações a serem consideradas

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

Detalhes completos

Algoritmo de tratamento

CONTÍNUA

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%)

Colaboradores

Autores

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

Declarações

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.

Agradecimentos

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.

Declarações

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

Revisores

Radhika Kuna, MD

Fellow

Division of Cardiology

University of Maryland Medical Center

Baltimore

Declarações

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

Declarações

SM declares that he has no competing interests.

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Referências

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Principais artigos

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.Texto completo Resumo

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.Texto completo Resumo

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.]Texto completo Resumo

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.Texto completo Resumo

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.Texto completo Resumo

Artigos de referência

Uma lista completa das fontes referenciadas neste tópico está disponível para os usuários com acesso total ao BMJ Best Practice.

Diagnósticos diferenciais
- Athlete's heart
- Discrete subaortic stenosis
- LVH due to hypertension
Mais Diagnósticos diferenciais
Diretrizes
- 2024 AHA/ACC/AMSSM/HRS/PACES/SCMR guideline for the management of hypertrophic cardiomyopathy
- 2023 ESC Guidelines for the management of cardiomyopathies
Mais Diretrizes
Videos
Fourth heart sound gallop
Mais vídeos
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Hypertrophic cardiomyopathy

Resumo

Definição

História e exame físico

Principais fatores diagnósticos

Outros fatores diagnósticos

Fatores de risco

Investigações diagnósticas

Primeiras investigações a serem solicitadas

Investigações a serem consideradas

Algoritmo de tratamento

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%)

Colaboradores

Autores

Theodore Abraham, MD

Declarações

Agradecimentos

Declarações

Revisores

Radhika Kuna, MD

Declarações

Saidi Mohiddin, BSc, MBChB

Declarações

Créditos aos pareceristas

Declarações

Referências

Principais artigos

Artigos de referência

Uma lista completa das fontes referenciadas neste tópico está disponível para os usuários com acesso total ao BMJ Best Practice.

Diagnósticos diferenciais

Diretrizes

Videos

Conectar-se ou assinar para acessar todo o BMJ Best Practice

Conectar-se ou assinar para acessar todo o BMJ Best Practice

Conectar-se para acessar todo o BMJ Best Practice