Advances in Cardiac Imaging and Genetic Testing for Diagnosis and Risk Stratification in Cardiomyopathies: 2024 Update

Abstract

Cardiomyopathies represent a diverse group of heart muscle diseases marked by structural and functional abnormalities that are not primarily caused by coronary artery disease. Recent advances in non-invasive imaging techniques, such as echocardiography, cardiac magnetic resonance, and computed tomography, have transformed diagnostic accuracy and risk stratification, reemphasizing the role of cardiac imaging in diagnosis, phenotyping, and management of these conditions. Genetic testing complements imaging by clarifying inheritance patterns, assessing sudden cardiac death risk, and informing therapeutic choices. Integrating imaging data, such as left ventricular wall thickness, fibrosis, and apical aneurysms, with genetic findings enhances decision-making for implantable cardioverter-defibrillators in high-risk patients. Emerging technologies like artificial intelligence, strain imaging, and molecular imaging, alongside genetic testing, hold the promise of further refining diagnosis and personalized treatment approaches. This article summarizes the current state and future perspectives of cardiac imaging and genetic testing for diagnosis and risk stratification in cardiomyopathies, offering practical insights for patients’ management.