Triheptanoin: A Rescue Therapy for Cardiogenic Shock in Carnitine-acylcarnitine Translocase Deficiency

Abstract

Carnitine-acylcarnitine translocase (CACT) deficiency is a rare long-chain fatty acid oxidation disorder (LC-FAOD) with high mortality due to cardiomyopathy or lethal arrhythmia. Triheptanoin (UX007), an investigational drug composed of synthetic medium odd-chain triglycerides, is a novel therapy in development for LC-FAOD patients. However, cases of its safe and efficacious use to reverse severe heart failure in CACT deficiency are limited. Here, we present a detailed report of an infant with CACT deficiency admitted in metabolic crisis that progressed into severe cardiogenic shock who was successfully treated by triheptanoin. The child was managed, thereafter, on triheptanoin until her death at 3 years of age from a cardiopulmonary arrest in the setting of acute respiratory illness superimposed on chronic hypercarbic respiratory failure.

Keywords: Cardiogenic shock; Carnitine-acylcarnitine translocase deficiency; Long-chain fatty acid oxidation disorder; Triheptanoin; UX007.

Fig. 1

Cardiac function plotted over time. Prior to and even at admission to ICU, the patient maintained normal biventricular systolic and diastolic function, despite left ventricular hypertrophy. When she suffered cardiogenic shock, ejection fraction (EF) and shortening fraction (SF) both declined precipitously to approximately 25% and 12%, respectively. After 72 h of triheptanoin therapy, her EF and SF returned to baseline. She continued triheptanoin therapy till her death. Prior to death, her cardiac function was close to her baseline