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 characterized 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 presyncope 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 catheterization
- cardiac MRI
- genetic mutation analysis
symptomatic: predominant left ventricular (LV) outflow tract obstruction with preserved systolic function
symptomatic: predominant nonobstructive with preserved systolic function
symptomatic: end-stage heart failure with systolic dysfunction
- Athlete's heart
- Discrete subaortic stenosis
- LVH due to hypertension
- Recommendations for multimodality cardiovascular imaging of patients with hypertrophic cardiomyopathy
- 2021 ESC guidelines on cardiac pacing and cardiac resynchronization therapy
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