Diagnostyka kardiologiczna u chorych z chorobami nerwowo-mięśniowymi

Abstract

Cardiac involvement in neuromuscular disease most often manifests with cardiomyopathy, atrioventricular conduction disturbances, and supraventricular and ventricular tachyarrhythmias, accompanied by heart failure in some patients. The phenotype of cardiac involvement, and to a large extent also the symptoms and the timing of their occurrence, depend on the genetic background of the neurological disease, hence the importance of genetic testing. Knowledge of the proper neurological diagnosis supported by genetic testing results allows for targeted cardiological investigations. Non-invasive imaging modalities (echocardiography, cardiac magnetic resonance) and cardiac rhythm monitoring using electrocardiography allow the assessment of myocardial involvement progression and implementation of appropriate treatment. In addition, they enable identification of asymptomatic patients at an early disease stage and prevention of future sudden cardiac death.