Hypertrophic cardiomyopathy 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, calcium-channel blockers, or disopyramide is used in symptomatic patients.
A subset of patients with increased risk for sudden death should undergo defibrillator implantation.
Hypertrophic cardiomyopathy (HCM) is a genetic disorder characterised by left ventricular hypertrophy (LVH) without an identifiable cause. It is the most common genetic heart disease as well as the most frequent cause of sudden cardiac death in young people. 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.
History and exam
Key diagnostic factors
- family history of HCM
- history of pre-syncope or syncope
- systolic ejection murmur
- left ventricular lift
- double apical impulse or double carotid pulsation
- family history of sudden death
Other diagnostic factors
- younger male (<50 years)
- irregularly irregular pulse
- older female (>50 years)
- fourth heart sound
- family history of HCM or sudden cardiac death
1st investigations to order
Investigations to consider
- exercise ECG
- Holter monitoring
- nuclear imaging exercise test
- CT coronary arteriography
- cardiac catheterisation
- cardiac MRI
- genetic mutation analysis
symptomatic: predominant left ventricular (LV) outflow tract obstruction with preserved systolic function
symptomatic: predominant non-obstructive with preserved systolic function
symptomatic: end-stage heart failure with systolic dysfunction
Monica Mukherjee, MD, MPH
Associate Professor of Medicine
Division of Cardiology
Johns Hopkins University School of Medicine
MM declares that she has no competing interests.
Theodore Abraham, MD
Professor of Medicine and Radiology
Meyer Friedman Distinguished Professor of Medicine
Co-director, UCSF HCM Center of Excellence
University of California
TA declares that he has no competing interests.
Dr Monica Mukherjee and Dr Theodore Abraham would like to gratefully acknowledge Dr Melanie D. Everitt and Dr Anji T. Yetman, previous contributors to this topic.
MDE and ATY declare that they have no competing interests.
Radhika Kuna, MD
Division of Cardiology
University of Maryland Medical Center
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
SM declares that he has no competing interests.
- Athlete's heart
- Discrete subaortic stenosis
- LVH due to hypertension
- 2021 ESC guidelines on cardiac pacing and cardiac resynchronization therapy
- 2020 ESC guidelines on sports cardiology and exercise in patients with cardiovascular disease
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