Multidisciplinary approach in cardiomyopathies: From genetics to advanced imaging

Area of Science:

• Cardiology
• Genetics
• Medical Imaging

Background:

• Cardiomyopathies are myocardial diseases causing heart muscle mechanical and electrical dysfunction.
• These conditions can lead to heart failure and life-threatening arrhythmias.
• Initial diagnosis relies on clinical assessment, but advanced imaging is crucial.

Purpose of the Study:

• To review the echocardiographic, cardiac magnetic resonance imaging (CMR), and genetic features of various cardiomyopathies.
• To highlight the diagnostic and risk stratification roles of cardiovascular imaging.
• To cover dilated cardiomyopathy (DMC), hypertrophic cardiomyopathy (HCM), arrhythmogenic cardiomyopathy (ACM), left ventricular noncompaction cardiomyopathy (LVNC), myocarditis, and takotsubo cardiomyopathy.

Main Methods:

• Review of current literature on cardiomyopathies.
• Focus on diagnostic capabilities of echocardiography and CMR.
• Integration of genetic findings in cardiomyopathy diagnosis and understanding.

Main Results:

• Echocardiography is a primary, accessible imaging tool for cardiomyopathies.
• Cardiac MRI complements echocardiography, providing detailed myocardial information.
• Genetic testing is increasingly important for identifying pathogenic mutations.

Conclusions:

• Cardiovascular imaging, particularly echocardiography and CMR, is essential for diagnosing and managing cardiomyopathies.
• Genetic analysis provides further insights into cardiomyopathy etiology and risk.
• A multi-modal approach combining imaging and genetics improves patient care.