[Precision medicine in the diagnostics and treatment of cardiomyopathies : State of the art].

Abstract

Cardiomyopathies (CMP) comprise a group of heterogeneous heart muscle diseases that have molecular genetic causes and cannot be adequately explained by other cardiovascular diseases. The diagnosis and treatment of CMPs have made significant progress in recent decades, which is reflected in novel specific cardiomyopathy guidelines of the European Society of Cardiology (ESC) published in 2023. A patient-centered approach combines multimodal diagnostics, such as echocardiography, magnetic resonance imaging, genetic testing and biopsy to enable precise etiological classification and thus personalized treatment. Existing treatment options have been expanded through innovative treatments. Mavacamten treats left ventricular outflow tract (LVOT) obstruction in hypertrophic CMP, while tafamidis and RNA-based treatment, such as patisiran and vutrisiran specifically affect transthyretin-mediated amyloidosis. Advances in gene therapy open up new perspectives. Artificial intelligence (AI) is pivotal in precision medicine where AI-assisted analyses enhance the diagnosis of subclinical diseases, optimize imaging modalities and accelerate the development of new treatment approaches. The ESC guidelines are an important milestone in the care of patients with CMP, while also emphasizing the need for further research and scientific ethical discussions, especially with respect to AI and innovative forms of treatment.