From the Guidelines
Testing for Hypertrophic Cardiomyopathy (HCM) should begin with a physical examination and medical history review, followed by an echocardiogram, which is the most important diagnostic test, as recommended by the 2024 AHA/ACC/AMSSM/HRS/PACES/SCMR guideline 1.
Diagnostic Tests for HCM
The following tests are essential for diagnosing HCM:
- Echocardiogram: to measure wall thickness and identify characteristic thickening of the heart muscle, particularly in the left ventricle
- Electrocardiogram (ECG): to show abnormal electrical patterns common in HCM
- Cardiac MRI: for precise measurements of heart muscle thickness and to detect scarring
- Exercise stress testing: to evaluate symptoms during physical activity and assess risk
- Genetic testing: to identify specific mutations and help with family screening
- Holter monitoring (24-48 hour ECG recording): to detect arrhythmias
Family Screening
Family screening is crucial since HCM is often inherited, so first-degree relatives should undergo evaluation including ECG and echocardiography, as recommended by the 2024 AHA/ACC/AMSSM/HRS/PACES/SCMR guideline 1.
Importance of Early Detection
Early detection of HCM allows for appropriate management to prevent complications like sudden cardiac death, heart failure, and stroke, highlighting the importance of regular screening and monitoring, as emphasized by the 2024 AHA/ACC/AMSSM/HRS/PACES/SCMR guideline 1.
Additional Considerations
In cases where echocardiography is nondiagnostic or inconclusive, CMR imaging is an important adjunctive test to clarify diagnosis, as stated in the 2024 AHA/ACC/AMSSM/HRS/PACES/SCMR guideline 1. The 2024 AHA/ACC/AMSSM/HRS/PACES/SCMR guideline also recommends routine follow-up of patients with HCM, including serial TTE every 1 to 2 years, to assess for changes in LV systolic and diastolic function, wall thickness, chamber size, LVOTO, and concomitant valvular disease 1.
In summary, a comprehensive diagnostic approach, including echocardiogram, ECG, cardiac MRI, exercise stress testing, genetic testing, and Holter monitoring, is essential for diagnosing HCM, and family screening is crucial for early detection and prevention of complications, as recommended by the 2024 AHA/ACC/AMSSM/HRS/PACES/SCMR guideline 1.
From the Research
Diagnostic Tests for HCM
To test for Hypertrophic Cardiomyopathy (HCM), several diagnostic tests can be utilized, including:
- Electrocardiogram (ECG) 2: remains an essential first step in evaluating patients with HCM, and an abnormal ECG may be the only manifestation of disease at an early stage.
- Echocardiography 3, 4: plays a crucial role in the assessment of patients with HCM, including diagnosis, screening, management formulation, prognosis, and follow-up.
- Cardiac Magnetic Resonance (CMR) 3: offers enhanced accuracy in tissue characterization, fibrosis detection, and procedural planning.
- Cardiac Computed Tomography (CCT) 3: provides valuable information in the diagnosis and management of HCM.
- Genetic testing 5: is essential for risk assessment and can help identify individuals with a family history of HCM.
Imaging Modalities
Imaging modalities, such as:
- Transthoracic echocardiography (TTE) 3, 4: remains the first-line tool for diagnosing HCM.
- CMR and CCT 3: offer advanced techniques for tissue characterization, fibrosis detection, and procedural planning.
- Holter monitoring and loop recorders 2: can be used to monitor patients with HCM and detect any abnormalities.
Risk Stratification
Risk stratification is crucial in managing HCM, and several factors can be used to assess the risk of sudden cardiac death, including: