Successful orthotopic heart transplantation in CPTII deficiency

Carnitine palmitoyl transferase II (CPT II) catalyzes the release of activated long-chain fatty acids from acylcarnitines into mitochondria for subsequent fatty acid oxidation. Depending on residual enzyme activity, deficiency of this enzyme leads to a spectrum of symptoms from early onset hypoglycemia, hyperammonemia, cardiomyopathy and death to onset of recurrent rhabdomyolysis in adolescents and young adults. We present a case of successful orthotopic heart transplantation in a patient with severe infantile onset cardiomyopathy due to CPT II deficiency identified through newborn screening. Excellent cardiac function is preserved 12 years post-transplantation; however, the patient has developed intermittent episodes of hyperammonemia and rhab-domyolysis later in childhood and early adolescence readily resolved with intravenous glucose. Successful heart transplant in this patient demonstrates the feasibility of this management option in patients with even severe forms of long chain fatty acid oxidation disorders. (c) 2021 Published by Elsevier Inc.

Automated summary

Carnitine palmitoyl transferase II (CPT II) deficiency can lead to a range of symptoms, including hypoglycemia, hyperammonemia, cardiomyopathy, and rhabdomyolysis. A severe case of infantile onset cardiomyopathy due to CPT II deficiency was successfully treated with orthotopic heart transplantation, demonstrating the feasibility of this management option for patients with severe forms of long chain fatty acid oxidation disorders.