Ventricular Fibrillation and Cardiomyopathy in Propionic Acidemia: A Rare Metabolic Red Flag in Young Adults.

ABSTRACT:

Background

Propionic acidemia (PA) is a rare autosomal recessive metabolic disorder, typically presenting in infancy. Cardiac involvement in adults is uncommon and underrecognized.

Case summary

A previously healthy 20-year-old man suffered an out-of-hospital cardiac arrest caused by ventricular fibrillation. Initial evaluation revealed dilated cardiomyopathy, elevated lactate and ammonia levels, and increased propionyl-L-carnitine. Genetic testing identified biallelic pathogenic variants in the PCCB gene, confirming PA. He was managed with a subcutaneous implantable cardioverter-defibrillator, carnitine supplementation, and dietary protein restriction, showing favorable recovery.

Discussion

This case illustrates a rare late-onset presentation of PA with isolated cardi

SUBMITTER: Edgardo AT 

PROVIDER: S-EPMC12426689 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature