Heart Transplantation in Two Adolescents With Danon Disease

Daniel Oren ¹ Peter Chau ³ Melanie Manning ⁴ Joann Kwong ⁵ Beth D Kaufman ² Katsuhide Maeda ⁶ David N Rosentha ² Seth A Hollander ²

¹Department of Cardiology, Heart and Vascular Center, Semmelweis University, Budapest, Hungary
²Department of Pediatrics Cardiology Stanford medical center, Department of Pediatrics (Cardiology), Stanford University, Stanford University Medical Center, USA
³Pediatric Cardiology, Department of Pediatrics (Cardiology), Loma Linda Medical Center, USA
⁴Medical Genetics & Pathology, Department of Pediatrics (Medical Genetics) & Pathology, Stanford University, Stanford University Medical Center, USA
⁵Rehabilitation Services, Rehabilitation Services, Lucile Packard Children’s Hospital, Stanford, USA
⁶Cardiothoracic Surgery, Department of Cardiothoracic Surgery, Stanford University Medical Center, USA

Danon disease (DD) is an X-linked dominant disorder caused by a mutation in the lysosomal-associated membrane protein-2 (LAMP-2) gene coding for the LAMP-2 protein. We report 2 cases of successful heart transplantation (HT) in adolescent brothers with DD, including one who was bridged to HT for 34 days with a HeartWare left ventricular assist device (HVAD). In both patients, the post-transplant course was complicated by profound skeletal muscle weakness that resolved with corticosteroid withdrawal. These cases highlight that both heart transplantation and ventricular assist device (VAD) support are feasible in patients with DD. Corticosteroid use may exacerbate skeletal myopathy and therefore steroid minimization may be warranted whenever possible.