[Update on hypertrophic cardiomyopathy]

Area of Science:

• Cardiology
• Genetics
• Medical Imaging

Background:

• Hypertrophic cardiomyopathy (HCM) in Europe encompasses primary genetic and secondary acquired forms.
• Distinguishing between these forms is crucial for appropriate management.
• Left ventricular wall thickening necessitates a differential diagnosis to identify the underlying cause.

Purpose of the Study:

• To outline the diagnostic approach for hypertrophic cardiomyopathy (HCM).
• To highlight the role of advanced imaging and genetic testing in HCM diagnosis.
• To discuss current therapeutic strategies for different HCM subtypes.

Main Methods:

• Echocardiography for initial assessment of left ventricular wall thickening.
• Cardiac magnetic resonance imaging (CMR) for definitive diagnosis.
• Genetic testing for identifying primary HCM causes.
• Risk stratification for arrhythmias in primary HCM patients.

Main Results:

• CMR is key for definitive HCM diagnosis.
• Genetic testing is important for primary HCM, especially common forms.
• Arrhythmia risk stratification is mandatory for primary HCM.
• Specific treatments exist for symptomatic obstruction and transthyretin amyloid cardiomyopathy.

Conclusions:

• A systematic diagnostic pathway involving echocardiography, CMR, and genetic testing is essential for HCM.
• Risk stratification and targeted therapies improve outcomes for primary HCM and secondary forms like transthyretin amyloid cardiomyopathy.