原 和弘¹, 山口 徹¹, 樫田 光夫¹, 桑子 賢司¹, 遠田 栄一²

Kazuhiro HARA¹, Tetsu YAMAGUCHI¹, Mitsuo KASIDA¹, Kenji KUWAKO¹, Eiichi TODA²

¹三井記念病院循環器センター内科, ²三井記念病院中央検査部

¹Center for Cardiovascular Disease, Mitsui Memorial Hospital, ²Central Clinical Laboratory, Mitsui Memorial Hospital

キーワード : Cardiac hemochromatosis, Echocardiography

Echocardiographic and histological studies in a rare case of cardiac hemochromatosis were presented. A 39-year-old woman with six-years history of pure red cell aplasia was admitted for palpitation in April, 1983. She had received more than 80000 ml of blood transfusions. Two-dimensional echocardiography (2DE) demonstrated slight dilatation of both ventricles; diastolic dimension of left ventricle (LVDd) was 54 mm and fractional shortening (FS) 22%. She died from congestive heart failure five months later. 2DE immediately before her death showed RV dilatation (RVD=28 mm), normal left ventricle (LVDd=48%, FS=27%) and the "patchy granular and high intensity echoes" in the basal IVS.
Histological studies showed diffuse iron deposition, vacuolar degeneration and minimal fibrosis in the myocardium. Iron deposition was found more markedly in the basal IVS than in the free ventricular wall. Therefore, this abnormal echoes were supposed to be due to iron deposition rather than fibrosis in this patient.
In addition to the depressed ventricular function previously reported, the "patchy, granular and high intensity echoes" in the basal IVS was considered to be a characteristic echocardiographic finding in advanced cardiac hemochromatosis. Moreover, RV dilatation might be one of the signs of poor prognosis in this condition.