Successful orthotopic heart transplantation in CPTII deficiency

Mol Genet Metab. 2021 Jun;133(2):182-184. doi: 10.1016/j.ymgme.2021.04.005. Epub 2021 Apr 28.

Abstract

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 rhabdomyolysis 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.

Keywords: CPT2 deficiency; Cardiomyopathy; Carnitine palmitoyl transferase deficiency; Fatty acid oxidation disorder; Heart transplantation.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Cardiomyopathies / genetics
  • Cardiomyopathies / pathology
  • Cardiomyopathies / therapy
  • Carnitine O-Palmitoyltransferase / deficiency*
  • Carnitine O-Palmitoyltransferase / genetics*
  • Carnitine O-Palmitoyltransferase / metabolism
  • Fatty Acids / metabolism
  • Heart / physiopathology*
  • Heart Transplantation / methods*
  • Humans
  • Hyperammonemia / genetics
  • Hyperammonemia / pathology
  • Hyperammonemia / therapy
  • Hypoglycemia / genetics
  • Hypoglycemia / pathology
  • Hypoglycemia / therapy
  • Infant, Newborn
  • Metabolism, Inborn Errors / genetics
  • Metabolism, Inborn Errors / metabolism
  • Metabolism, Inborn Errors / pathology
  • Metabolism, Inborn Errors / therapy*
  • Neonatal Screening
  • Rhabdomyolysis / genetics
  • Rhabdomyolysis / pathology
  • Rhabdomyolysis / therapy
  • Young Adult

Substances

  • Fatty Acids
  • Carnitine O-Palmitoyltransferase

Supplementary concepts

  • Carnitine palmitoyl transferase 2 deficiency