Hypertrophic cardiomyopathy as the initial presentation of mitochondrial disease in an infant born to a diabetic mother
- Affiliated Author(s)
- 변준철; 최희정
- Alternative Author(s)
- Byun, Jun Chul; Choi, Hee Joung
- Journal Title
- Cardiol Young
- ISSN
- 1467-1107
- Issued Date
- 2023
- Keyword
- Hypertrophic cardiomyopathy; MT-TL1 mutation; infant of a diabetic mother; mitochondrial cardiomyopathy
- 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.
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