| A case of mitochondrial diabetes associated with cardiomyopathy |
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Sung Eun Kim, Dae-Gyun Park, In-Sang Yun, Jun-Hee Lee, Kyu Rok Han, Dong-Jin Oh, Hyeon Kyu Kim |
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경희대학교 의과대학 순환기내과학교실 |
| 증례 : 비후성 심근증과 유사소견을 보인 Mitochondrial diabetes 1예 |
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김성은&#;박대균&#;윤인상&#;이준희&#;한규록&#;오동진&#;김현규, Dae-Gyun Park, In-Sang Yun, Jun-Hee Lee, Kyu Rok Han, Dong-Jin Oh, Hyeon Kyu Kim |
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| Abstract |
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Maternally inherited diabetes and deafness (MIDD) is related to a point mutation at position 3243 of mitochondrial
DNA and the same mutation has been identified in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and
stroke-like episodes) syndrome. Although cardiomyopathy is known to be common in mitochondrial diabetes, cardiac
involvement in MIDD has not been reported in Korea. Hear, we present a case of MIDD with clinical features of
hypertrophic cardiomyopathy. A 32-year-old man was admitted with three months of dyspnea. He had been diagnosed
with diabetes at the age of 26 and sensorineural hearing loss at the age of 29. He had no previous history of neurologic
disorders suggesting MELAS syndrome. His parents and brother had diabetes and his sister had diabetes and deafness.
Echocardiography revealed markedly reduced left ventricular ejection fraction (LVEF) and thickened left ventricular wall.
His symptoms and LVEF were improved with medications including angiotensin converting enzyme (ACE) inhibitor and
diuretics. Genetic analysis showed mitochondrial tRNALeu(UUR) mutation at position 3243.(Korean J Med 73:S946-S950, 2007) |
| Key Words:
Maternally inherited diabetes and deafness, Cardiomyopathy, Mitochondrial mutation |
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