Ventricular Fibrillation and Cardiomyopathy in Propionic Acidemia
Year: 2025
Type: article
Study design: Case Report
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 cardiac symptoms. Such cases highlight the need to consider metabolic cardiomyopathy in young patients with unexplained ventricular arrhythmias and systemic metabolic disturbances.
Source: JACC Case Reports
Authors: Alania Torres Edgardo, Olivera Gonzalez Susana, Luengo Perez Sergio, Bertomeu Perez Paula, Molines Charbonnier Beatriz
Language: English
Subfield: Clinical Biochemistry
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $850
OpenAlex ID: W4413965139