Journal of Pediatric Cardiology and Cardiac Surgery

Online ISSN: 2433-1783 Print ISSN: 2433-2720
Japanese Society of Pediatric Cardiology and Cardiac Surgery
Japanese Society of Pediatric Cardiology and Cardiac Surgery Academy Center, 358-5 Yamabuki-cho, Shinju-ku, Tokyo 162-0801, Japan
Journal of Pediatric Cardiology and Cardiac Surgery 4(1): 17-21 (2020)

Case ReportCase Report

Dilated Cardiomyopathy in an Adolescent Female with Propionic Acidemia

1Department of Pediatrics, Hokkaido University Hospital ◇ Sapporo, Japan

2Department of Surgical Pathology, Hokkaido University Hospital ◇ Sapporo, Japan

3Department of Pediatrics, Obihiro Kyokai Hospital ◇ Obihiro, Japan

受付日:2019年9月26日Received: September 26, 2019
受理日:2019年12月27日Accepted: December 27, 2019
発行日:2020年3月1日Published: March 1, 2020

Propionic acidemia is a congenital metabolic disorder that typically develops in the neonatal period, with a metabolic crisis comprising metabolic acidosis and hyperammonemia. However, late-onset cardiomyopathy is an initial presentation in a limited number of patients. The present case was a 14-year-old female with mental retardation and epilepsy. During a cardiac screening test conducted in school, tachycardia was observed, and a diagnosis of dilated cardiomyopathy was reached. The acylcarnitine analysis showed a high level of propionylcarnitine; thus, propionic acidemia was strongly suspected. Genetic analysis identified compound heterozygous mutations in the PCCB gene. Myocardial biopsy showed hypertrophy of cardiomyocytes with vacuolar changes under light microscopy, and the number of mitochondria was increased under electron microscopy. When differentiating cardiomyopathy in children and adolescents, physicians should be aware of the possibility of inborn errors of metabolism as a cause.

Key words: propionic acidemia; cardiomyopathy; acylcarnitine analysis; endomyocardial biopsy

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