Combined Heart and Liver Transplantation in Delayed-Onset Propionic Acidemia

Amish patients with propionic acidemia can have delayed presentations with rapid onset, severe cardiac decompensation despite metabolic control. Medical management is limited to strict low protein diet and correction of underlying catabolic triggers. Liver transplantation is indicated in pediatric patients with recurrent metabolic decompensation. There are limited reports of pediatric combined liver and heart transplantation. We present the first case of combined liver and heart transplantation in an Amish adult with newly diagnosed propionic acidemia and severe nonischemic dilated cardiomyopathy on advanced cardiac life support. Special considerations were necessary for close metabolic status monitoring and prevention of catabolic states.