From the Guidelines
Hypertrophic cardiomyopathy (HCM) is typically seen in patients with a maximal end-diastolic wall thickness of ≥15 mm anywhere in the left ventricle, in the absence of another cause of hypertrophy, as established by imaging such as 2D echocardiography or cardiovascular magnetic resonance (CMR) 1.
Patient Characteristics
HCM can be observed in various patient populations, including:
- Adults with unexplained left ventricular hypertrophy (LVH)
- Children with a body surface area adjusted z-score of ≥2 standard deviations above the mean, or a threshold of z >2.5 for early diagnosis in asymptomatic children with no family history 1
- Individuals with a family history of HCM or a positive genetic test, where more limited hypertrophy (13–14 mm) can be diagnostic 1
- Athletes undergoing pre-participation screening, as well as patients with a family history of HCM or sudden cardiac death
Diagnostic Considerations
The diagnosis of HCM involves:
- Imaging studies, such as 2D echocardiography or CMR, to assess left ventricular wall thickness and morphology 1
- Genetic testing to confirm the diagnosis and facilitate family screening, as first-degree relatives have a 50% chance of inheriting the causative mutation
- Consideration of the patient's clinical presentation, including symptoms such as exertional dyspnea, chest pain, palpitations, syncope, or sudden cardiac death
Special Populations
Certain populations show higher prevalence of HCM, including:
- Those of African descent
- Individuals with a family history of HCM or sudden cardiac death
- Athletes undergoing pre-participation screening 1
From the Research
Patient Characteristics
- Hypertrophic cardiomyopathy (HCM) can affect individuals of any age, but it is particularly concerning in young adults, as it is a leading cause of sudden cardiac death in this population 2.
- HCM is associated with increased morbidity and mortality, and the assessment of the risk of sudden cardiac death is of paramount importance 3.
- Patients with HCM often have a family history of the condition, and genetic testing can be used to identify those at risk 4.
Clinical Presentation
- HCM can present with symptoms such as chest pain, shortness of breath, and palpitations, but some patients may be asymptomatic 5.
- The condition is characterized by left ventricular hypertrophy, which can be detected using echocardiography or other imaging modalities 5, 6.
- Patients with HCM may also have mitral valve systolic anterior motion, anteriorly positioned mitral valve leaflet coaptation, anomalous anterior insertion of papillary muscles, and diastolic dysfunction 5.
Diagnosis and Risk Stratification
- Echocardiography is a valuable tool for diagnosing HCM and assessing the risk of sudden cardiac death 5, 6.
- The European Society of Cardiology HCM Risk-SCD model is a useful tool for risk stratification in patients with HCM 4.
- Deep learning-based approaches can also be used to identify HCM from electrocardiographic images, offering a potential screening strategy for the condition 2.