Monitoring Of Cardiac Involvement In Patients With Myotonic Dystrophy Type 1 (Steinert‘S Disease)

Abstract

Myotonic dystrophy type 1 (Steinert‘s disease) is a genetic multisystem disease that is characterized clinically by myotonic phenomena (difficult relaxation after a strong muscle contraction), progressive muscle weakness and atrophy, cataracts, cardiomyopathy, gonadal atrophy and cognitive impairment. We present a mother and daughter suffering from clinically and genetically confirmed myotonic dystrophy. The mother has a family history and data on anticipation in the generations. The family described by us has a characteristic of the classical form of myotonic dystrophy type 1, with variability in the clinical symptoms in each of the family members and signs of anticipation in the generation. The onset of the disease in the mother is in adolescence and in the girl in childhood. The aim of our presentation is to establish the presence, severity and progression of the manifestations of heart failure in patients with myotonic dystrophy (MD). Patients with type 1 MD have mostly arrhythmias and, less frequently, myocardial dysfunction. Cardiologists need to be aware of the cardiac manifestations of this disease in order to diagnose patients with an increased risk of cardiac complications in a timely manner.