VAD as Bridge to Transplant Decision in Nine-Year-Old Child with Duchenne Muscular Dystrophy

Abstract

<h3>Introduction</h3> Overall survival and quality of life has been improving in patients with Duchenne Muscular Dystrophy (DMD) in recent years in the setting of increased treatment with steroids and non-invasive positive pressure. Cardiac disease is now the primary cause of death. Given this shift, advanced cardiac therapies such as ventricular assist devices (VADs) and transplantation are being increasingly considered in selected individuals. <h3>Case Report</h3> A 9-year-old, ambulatory male with DMD, treated with prednisone and eteplirsen (exon-skipping agent), had rapid progression of ventricular dysfunction over a 6 month period. Given the patient's young age, additional work-up was done to rule out secondary causes. Viral myocarditis labs were unremarkable, but cardiac MRI demonstrated diffuse fibrosis consistent with DMD cardiomyopathy. Despite optimized oral medications, he was hospitalized twice for decompensated heart failure, ultimately requiring intravenous inotropic support. Given that his cardiomyopathy was rapidly progressive and out of proportion to his skeletal muscle disease (remained ambulatory with minimal respiratory muscle weakness), the family opted for VAD implantation with the possibility of subsequent transplant. For successful device placement, a subdiaphragmatic Gore-Tex pericardial pocket extension was created intraoperatively to fit the HeartMate3 LVAD given his small size (45 kg, BSA 1.35/m²). He was extubated on POD#1 and on baseline nocturnal BiPAP by POD#2. He was discharged with improved exercise tolerance and remains ambulatory. The patient was listed for heart transplant 3 months after VAD placement and had no unplanned readmissions. <h3>Summary</h3> In a carefully selected population of muscular dystrophy patients, even at small size and age, VAD placement can be safely performed with good outcomes. VAD support can be used as destination therapy, or in some cases, as bridge to transplantation. Transplantation may be appropriate for those DMD patients with cardiac disease out of proportion to skeletal and respiratory muscle disease, particularly if they are expected to have reasonable longevity from a non-cardiac standpoint. VAD support may allow for full evaluation of these non-cardiac co-morbidities in the absence of heart failure and thus may be helpful in the proper selection of appropriate transplant candidates.