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

Area of Science:

• Biochemistry
• Genetics
• Pediatrics

Background:

• Carnitine-acylcarnitine translocase (CACT) deficiency is a rare, life-threatening long-chain fatty acid oxidation disorder (LC-FAOD).
• High mortality in CACT deficiency is often attributed to cardiomyopathy and lethal arrhythmias.
• Effective therapeutic options for severe heart failure in CACT deficiency remain limited.

Purpose of the Study:

• To report the successful use of triheptanoin (UX007) in reversing severe cardiogenic shock in an infant with CACT deficiency.
• To provide detailed clinical insights into the management of a patient with CACT deficiency and heart failure using triheptanoin.

Main Methods:

• Case report of an infant diagnosed with CACT deficiency presenting in metabolic crisis and progressing to severe cardiogenic shock.
• Treatment initiation and management with triheptanoin, a synthetic medium odd-chain triglyceride therapy.
• Long-term follow-up of the patient's clinical course on triheptanoin therapy.

Main Results:

• Triheptanoin therapy successfully reversed severe cardiogenic shock in the affected infant.
• The patient was managed on triheptanoin until 3 years of age.
• The patient ultimately succumbed to cardiopulmonary arrest secondary to acute respiratory illness superimposed on chronic hypercarbic respiratory failure.

Conclusions:

• Triheptanoin demonstrates potential efficacy in treating severe heart failure associated with CACT deficiency.
• This case highlights the challenges in long-term management of LC-FAOD patients, even with novel therapies.
• Further research is warranted to explore the role of triheptanoin in managing cardiac complications of CACT deficiency.