Ishikawa Yukio, Sekiguchi Kyoko, Akasaka Yoshikiyo, Ito Kinji, Akishima Yuri, Zhang Lijun, Itoh Masamichi, Ishihara Motoko, Ishii Toshiharu
Department of Pathology, Toho University School of Medicine, Tokyo, Japan.
Hum Pathol. 2003 Mar;34(3):282-4. doi: 10.1053/hupa.2003.28.
The first autopsy case of fibromuscular dysplasia in the coronary arteries associated with hypertrophic cardiomyopathy in Noonan's syndrome is reported. A 16-month-old female infant with no significant family history was diagnosed with Noonan's syndrome and subsequently died of cardiac and respiratory failure. Autopsy revealed cardiac hypertrophy, atrial septal defect, and scar lesions in the left ventricle and ventricular septum. Histologically, the myocardium exhibited myocardial fiber disarray, which was indicative of hypertrophic cardiomyopathy. The main trunks of the coronary arteries showed protuberant intimal thickening with interruption of the internal elastic lamina. Intramyocardial coronary arteries also exhibited various degrees of irregular intimal proliferation and diffuse fibrous thickening of the adventitia. These arterial lesions were consistent with fibromuscular dysplasia. Small arteries around the scar showed remarkable stenoses, which probably led to myocardial ischemia. The fibromuscular dysplasia in this case was considered to arise as a cardiovascular disorder in conjunction with Noonan's syndrome.
报道了首例与努南综合征中的肥厚型心肌病相关的冠状动脉纤维肌发育不良的尸检病例。一名无显著家族史的16个月大女婴被诊断为努南综合征，随后死于心脏和呼吸衰竭。尸检发现心脏肥大、房间隔缺损以及左心室和室间隔的瘢痕病变。组织学上，心肌表现为心肌纤维排列紊乱，这提示肥厚型心肌病。冠状动脉主干显示内膜突出增厚，内弹性膜中断。心肌内冠状动脉也表现出不同程度的内膜不规则增生和外膜弥漫性纤维增厚。这些动脉病变符合纤维肌发育不良。瘢痕周围的小动脉显示明显狭窄，这可能导致心肌缺血。该病例中的纤维肌发育不良被认为是与努南综合征相关的一种心血管疾病。
