Case Report: When cardiomyopathy is the clue: late-presenting propionic acidemia manifesting as acute heart failure.
- 1Department of Pediatrics and Adolescent Medicine, Mayo Clinic, Rochester, MN, United States.
- 2Department of Clinical Genomics, Mayo Clinic, Rochester, MN, United States.
- 3Department of Pediatrics and Adolescent Medicine, Division of Pediatric Critical Care Medicine, Mayo Clinic, Rochester, MN, United States.
Abstract
Background
Propionic acidemia (PA) is a rare inborn error of metabolism that typically presents in infancy; however, late-onset variants may manifest with atypical features, including cardiac involvement. Dilated cardiomyopathy (DCM) is an uncommon but serious complication.Case summary
A 15-year-old with no prior medical history but a significant maternal family history of cardiomyopathy of unknown etiology from an Amish background presented with altered mental status, increased work of breathing, and progressive edema in the context of preceding viral illness. Evaluation revealed severe biventricular dysfunction, chamber dilation, and findings consistent with chronic DCM. Despite supportive management, her course was complicated by ventricular arrhythmias and clinical deterioration. Metabolic workup demonstrated elevated propionylcarnitine and increased urinary 2-methylcitric acid, confirming late-onset variant PA. She was treated with intravenous carnitine and a specialized metabolic formula; however, cardiac function remained severely impaired. In accordance with family wishes, she was discharged home on hospice care.Conclusion
Late-onset PA can present as isolated cardiomyopathy in adolescence. Early consideration of metabolic etiologies is essential in unexplained DCM, particularly in high-risk populations.
Related
- TOP3A pathogenic variants presenting as dilated cardiomyopathy and heart failure in three pediatric cases
- Atypical Presentation of Microscopic Polyangiitis with Pericarditis Manifesting as Right-Sided Heart Failure
- Phaeochromocytoma Crisis Presenting As Inverted Takotsubo Cardiomyopathy in a Young Woman: A Successful Outcome
- Case Report: Suspected biventricular arrhythmogenic cardiomyopathy presenting as a dilated cardiomyopathy-like phenotype with multimodal phenotyping and cautious genetic interpretation
- Massive idiopathic myocardial calcification presenting with a restrictive cardiomyopathy phenotype: diagnostic challenges in the differential diagnosis of constrictive pericarditis
BibTeX
@article{nti2026case,
title = {{Case Report: When cardiomyopathy is the clue: late-presenting propionic acidemia manifesting as acute heart failure.}},
author = {Belinda Kwartemaa Nti and Noah Trapp and Asma Ali and Brendan Lanpher and Jeffrey Weatherhead},
journal = {Frontiers in pediatrics},
year = {2026},
month = oct,
doi = {10.3389/fped.2026.1891137},
url = {https://europepmc.org/article/MED/42898550},
note = {CC BY},
}
RIS
TY - JOUR
TI - Case Report: When cardiomyopathy is the clue: late-presenting propionic acidemia manifesting as acute heart failure.
AU - Belinda Kwartemaa Nti
AU - Noah Trapp
AU - Asma Ali
AU - Brendan Lanpher
AU - Jeffrey Weatherhead
PY - 2026
DA - 2026/10/05
JO - Frontiers in pediatrics
DO - 10.3389/fped.2026.1891137
UR - https://europepmc.org/article/MED/42898550
AB - Background Propionic acidemia (PA) is a rare inborn error of metabolism that typically presents in infancy; however, late-onset variants may manifest with atypical features, including cardiac involvement. Dilated cardiomyopathy (DCM) is an uncommon but serious complication.Case summary A 15-year-old with no prior medical history but a significant maternal family history of cardiomyopathy of unknown etiology from an Amish background presented with altered mental status, increased work of breathing, and progressive edema in the context of preceding viral illness. Evaluation revealed severe biventricular dysfunction, chamber dilation, and findings consistent with chronic DCM. Despite supportive management, her course was complicated by ventricular arrhythmias and clinical deterioration. Metabolic workup demonstrated elevated propionylcarnitine and increased urinary 2-methylcitric acid, confirming late-onset variant PA. She was treated with intravenous carnitine and a specialized metabolic formula; however, cardiac function remained severely impaired. In accordance with family wishes, she was discharged home on hospice care.Conclusion Late-onset PA can present as isolated cardiomyopathy in adolescence. Early consideration of metabolic etiologies is essential in unexplained DCM, particularly in high-risk populations.
SN - 2296-2360
ER -