Cardiac phenotype in adolescents and young adults with long-chain 3-hydroxyacyl CoA dehydrogenase (LCHAD) deficiency

Area of Science:

• Cardiology
• Metabolic Disorders
• Genetics

Background:

• Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (LCHADD) is a rare fatty acid oxidation disorder.
• LCHADD is associated with metabolic decompensation, rhabdomyolysis, retinopathy, neuropathy, and cardiac issues like infantile dilated cardiomyopathy.

Purpose of the Study:

• To characterize major cardiac involvement in adolescent and young adult LCHADD patients.
• To understand the evolving cardiac phenotype of LCHADD as patients survive longer.

Main Methods:

• Retrospective cohort study.
• Reviewed cardiac phenotype in 16 adolescent and young adult LCHADD participants.

Main Results:

• 9 out of 16 participants experienced major cardiac involvement.
• Manifestations included sudden death, cardiac arrest, heart failure, and cardiomyopathy (dilated and restrictive).
• Sudden cardiac arrest was more prevalent in males and those with prior infant cardiomyopathy.

Conclusions:

• Cardiac manifestations in LCHADD are complex and differ from infantile presentations.
• Life-threatening arrhythmias occur frequently, sometimes without metabolic decompensation.
• Male sex and a history of infant cardiomyopathy may indicate higher risk for cardiac events.