JACC. Case reports · 2025
Ventricular Fibrillation and Cardiomyopathy in Propionic Acidemia: A Rare Metabolic Red Flag in Young Adults.
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Edgardo Alania Torres, Susana Olivera Gonzalez, Sergio Luengo Perez, Paula Bertomeu Perez, Beatriz Molines Charbonnier
Аннотация
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.
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.