山口 浩一, 林 輝美, 小林 さゆき, 藤邑 宏克, 木村 幸子, 酒井 良彦, 諸岡 成徳, 高畠　 豊

Hirokazu YAMAGUCHI, Terumi HAYASHI, Sayuki KOBAYASHI, Hirokatu FUJIMURA, Yukiko KIMURA, Yoshihiko SAKAI, Shigenori MOROOKA, Yutaka TAKABATAKE

獨協医科大学越谷病院循環器内科

Department of Cardiology, Koshigaya Hospital, Dokkyou University School of Medicine

キーワード : Von Reckinghausen disease, Hypertrophic obstructive cardiomyopathy

A 41-year-old man with typical skin lesions of neurofibromatosis was admitted in July 1992. Two-dimensional echocardiograms showed markedly hypertrophied interventricular septum which protruded toward the right ventricle. M-mode echocardiograms revealed systolic semiclosure movements of both aortic and pulmonic valves which suggested bi-ventricular outflow tract obstruction. Using continuous wave Doppler method, we obtained the pressure gradients 61 mmHg at the outflow tract of left ventricle. The right ventricular infundibular obstruction was demonstrated by transesophageal echocardiography. The outflow tract obstructions of both ventricles were confirmed by cardiac catheterization (the left ventricle: 74 mmHg and the right ventricle: 14 mmHg).
There are numerous mechanisms that could account for the development of hypertrophic cardiomyopathy (HCM) in Von Recklinghausen disease (REC disease). However, the exact frequency of HCM is difficult to assess, and the small number of reports of HCM with REC disease do not substantiate a significant association at this time.