ArticleJACC. Case reports2025
Ventricular Fibrillation and Cardiomyopathy in Propionic Acidemia: A Rare Metabolic Red Flag in Young Adults.
Article in JACC. Case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed.
- Disturbances of Mitochondrial Functions and Oxidative Stress Induction in Methylmalonic and Propionic Acidemias: A Critical Role for Metabolite Accumulation.International journal of molecular sciences · 2026Review
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPropionic 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.
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