Cardiac Transplantation in Patients with Muscular Dystrophy: A Case Report and Review of Literature

1. Abstract We report a case of slowly progressive Becker’s muscular dystrophy in a 52-year-old man who required cardiac transplantation for intractable congestive heart failure. A referral was made concerning prognosis of his muscular dystrophy in the multidisciplinary approach to transplant. A review of the literature provides limited guidance on cardiac transplantation in patients with muscular dystrophy although this procedure appears to be well-tolerated in those with Becker’s muscular dystrophy. Formal assessments and neuromuscular follow-up have not been clearly documented in patients having cardiac transplantation, and robust clinical evidence or guidance in this area is lacking. 2. Introduction Muscular dystrophies are a heterogeneous group of genetic muscular disorders presenting with progressive muscular weakness which have characteristic pathological features in the muscle biopsy and are often associated with other organ involvement such as cardiac, respiratory, or central nervous system [1, 2]. Cardiac involvement can involve primarily the myocardium or conductive system or be secondary to respiratory muscle involvement by causing cor pulmonale [3, 4]. Improved management of respiratory, cardiac, and other complications in different types of muscular dystrophy (MD) has led to increased survival of with many patients surviving into adulthood [2, 3, 5, 6]. With increased life expectancy of MD patients, neuromuscular physicians may be asked to provide advice in novel areas that lack a solid evidence base or guideline. Here, we report the case of a 52-year-old Becker muscular dystrophy (BMD) patient evaluated at the request of the cardiology service regarding eligibility for cardiac transplantation. We also present the results of a literature review regarding cardiac transplantation in MD, including any consensus recommendations. 3. Case Report A 52-year-old man was first evaluated in the Prosserman Family Neuromuscular Clinic at age 41 for proximal lower limb weakness manifest as difficulty in climbing stairs. He reported that he had a normal childhood and development but that he was never athletic. His 74-year-old mother had difficulty climbing stairs starting at age 72 and examination showed that she had bilateral calf hypertrophy. Three of his sisters are healthy. He developed symptoms at age 28 with minimal difficulty in climbing stairs. The weakness progressed slowly and by age 37, he had difficulty getting up from a chair and required support to climb stairs. He had no other weakness, bulbar or respiratory symptoms. Physical examination revealed a normal cranial nerve examination and upper limb power. In the lower limbs, he had proximal weakness at 4/5 in hip flexors, quadriceps, and hamstrings, normal distal strength and bilateral calf hypertrophy. Deep tendon reflexes were reduced in the upper limbs, absent at the knees and normal at the ankles. Plantar reflexes were flexor. Sensory examination was normal. He had a waddling gait and positive Gower’s sign.