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Hypertrophic cardiomyopathy as the initial presentation of mitochondrial disease in an infant born to a diabetic mother

Published online by Cambridge University Press:  23 March 2023

Jun Chul Byun  and
Hee Joung Choi Open the ORCID record for Hee Joung Choi [Opens in a new window]
Jun Chul Byun
Affiliation:
Department of Pediatrics, Keimyung University School of Medicine, Keimyung University Dongsan Medical Center, Daegu, Republic of Korea
Hee Joung Choi*
Affiliation:
Department of Pediatrics, Keimyung University School of Medicine, Keimyung University Dongsan Medical Center, Daegu, Republic of Korea
*
Author for correspondence: Hee Joung Choi, MD, Department of Pediatrics, Keimyung University School of Medicine, 1095 Dalgubeol-daero, Dalseo-gu, Daegu 42601, Republic of Korea. Tel: +82 53 258 7312; Fax: +82 53 258 7319. E-mail: joung756@dsmc.or.kr
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Abstract

In contrast to hypertrophic cardiomyopathy caused by maternal diabetes, neonatal mitochondrial cardiomyopathy is rare and has a poor prognosis. We report an infant born to a mother with maternal diabetes with persistent ventricular hypertrophy, who was diagnosed with mitochondrial disease associated with m.3243A>G mutation in a mitochondrial tRNA leucine 1 gene. The hypertrophic cardiomyopathy was his initial and only clinical presentation.

Keywords

Hypertrophic cardiomyopathymitochondrial cardiomyopathyMT-TL1 mutationinfant of a diabetic mother
Type
Brief Report
Information
Cardiology in the Young , Volume 33 , Issue 9 , September 2023 , pp. 1743 - 1745
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Copyright
© The Author(s), 2023. Published by Cambridge University Press

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