拡張型心筋症を合併したKlinefelter症候群の1例

Abstract

A 60-year-old male was admitted to our hospital because of orthopnea. He had been mentally retarded from childhood and his stature exceeded 180 cm ; he suffered from sexual dysfunction after growing up. He had often exhibited dyspnea since the age of 30, but had not received sufficient medical treatment. Echocardiogram revealed left ventricular (LV) dilatation and poor LV systolic function. Pathological examination of right ventricular myocardial biopsy showed hypertrophy and disarrangement of myocytes and fibrosis. Chromosomal analysis revealed his karyotype was 48, XXYY. Then he was diagnosed as having Klinefelter's syndrome complicated with dilated cardiomyopathy (DCM). Several reports attest to the familial occurrence of X-linked DCM, while Klinefelter's syndrome is characterized by two or more X chromosomes. Then we thought this case was interesting to assume a genetic predisposition to DCM.