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.