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英文誌(2004-)

Journal of Medical Ultrasonics

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1994 - Vol.21

Vol.21 No.11

Case Report(症例報告)

(0763 - 0768)

ミトコンドリア脳筋症一家系における特徴的心エコー図所見

Echocardiographic Features of Cardiomyopathy with Mutation of Mitochondrial DNA(3243)

安 隆則1, 藤井 幹久1, 大和 逵槫彰1, 黒田 豊1, 湯舟 憲雄2, 小塚 裕之2, 須田 渉2, 仲田 郁子1, 勝木 孝明1, 大村 延博1, 大塚 美恵子1, 山田 茂樹3, 斎藤 宗靖1

Takanori YASU1, Mikihisa FUJII1, Mafumi OWA1, Yutaka KURODA1, Norio YUBUNE2, Hiroyuki KOTSUKA2, Wataru SUDA2, Ikuko NAKADA1, Takaaki KATSUKI1, Nobuhiro OMURA1, Mieko OTSUKA1, Shigeki YAMADA3, Muneyasu SAITO1

1自治医科大学大宮医療センター内科, 2自治医科大学大宮医療センター生理機能検査室, 3自治医科大学大宮医療センター病理

1Cardiovascular Division, Jichi Medical School, Omiya Medical Center, 2Department of Internal Medicine, Jichi Medical School, Omiya Medical Center, 3Jichi Medical School, Omiya Medical Center

キーワード : Echocardiography, Hypertrophic cardiomyopathy, Mitochondrial cardiomyopathy

This study describes the echocardiographic characteristics of a family with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). A 38 year-old man was admitted to this institution because of progressive heart failure accompanied by a hearing disturbance and diabetes mellitus. His angiogram showed normal coronary arteries and a deteriorated ejection fraction, and the two-dimensional echocardiograjn revealed symmetrical hypertrophy of both ventricles with severely reduced wall motion. Unusually fine sandy refractile myocardial echoes, which reflect the histologic findings of accumulated abnormal mitochondrias in the cells and interstitial fibrosis, are characteristic in cases of MELAS. Ultrasonic examination of the patient's mother and younger brother obtained the same refractile echoes in the thick left ventricular myocardium, although their global systolic function was not impaired. Point mutation of mitochondrial DNA(3243) was identified in the patient, his mother, and his younger brother.