Successful orthotopic heart transplantation in patients with becker muscular dystrophy

Abstract

Cardiomyopathy is a major factor contributing to mortality and morbidity in patients with Duchenne and Becker muscular dystrophies (DMD/ BMD), and is therefore among the increasingly important findings. These X-linked recessive disorders involve the deficiency or absence of dystrophin in the skeletal muscle as well as the myocardium. This defect brings about changes in the cardiac muscle in three phases: an initial hypertrophic stage, followed by an arrhythmogenic stage, and finally end-stage dilated cardiomyopathy due to increased loss of myocytes. While cardiac involvement can be observed in carriers of BMD and DMD, the incidence of dilated cardiomyopathy is reported to be higher in BMD patients than DMD patients. The only curative treatment option for medically refractory dystrophinopathic end-stage heart failure is heart transplantation. In this report, we present two patients, 14 and 15 years of age, who presented with dilated cardiomyopathy and were diagnosed with muscular dystrophy. One of the patients remains under follow-up with a left ventricular assist device as a bridge-to-transplantation, while the other underwent successful orthotopic heart transplantation.