肥大型と拡張型の両者の混在した心筋症の一家系

Hypertrophic cardiomyopathy and dilated cardiomyopathy in six members of a family

　肥大型心筋症（HCM）の自然歴については不明な点が多く，農近では本症の一部では拡張型心筋症（DCM）様病態への移行例も報告されている。我々はDCMと診断した患者の家族調査により，患者の姉および子供にHCMを認め，また父は突然死をきたし，妹は心電図異常を認めるが超音波心断層図上異常はないなど，心筋症の幅広いスペクトラムを一家系に認めた。

　今回は発端者とその姉にあたるHCM患者を中心に報告し，またその家系の異常についてあわせて検討した。

A 42 years old woman complained of dyspnea and generalized edema was admitted to our hospital. Echocardiography showed marked dilatation of left atrium and left ventricle, hypokinesis of left ven-tricle wall motion, and asymmetrical septal hyper-trophy. Thalium myocardial scintigraphy showed the low perfusion of apico-antero-posterior wall. Left ventricular angiography showed the grobal, severe dilated left ventricle and generalized hypokinesis. Coronary angiogram was normal. The subendocar-dial biopsy from the left ventricle showed severe fibrosis and disarray. In short, this patient had a typical findings of dilated cadiomyopathy in addition to characteristic pathological findings of hypertro-phic cardiomyopathy. From family survey of this patient, we found that her elder sister and two children were HCM, her father died suddenly, and her younger sister had abnormal electrocadiogram.From these interesting findings based on this sur-very, it might be reasonable to speculate that some of the HCM come to show characters of the DCM, and finally change to the DCM.