van Son J A, Edwards W D, Danielson G K
Division of Thoracic and Cardiovascular, Mayo Clinic, Rochester, Minn 55905.
J Thorac Cardiovasc Surg. 1994 Jul;108(1):21-8.
Among five patients with supravalvular aortic stenosis in whom autopsy tissues were available, all were male, 1 1/2 to 39 years old (mean 10 years, median 3 years), and the four children had Williams-Beuren syndrome (two familial, two sporadic). Medial thickening and dysplasia (disorganization) characterized the aortic sinotubular junction of three patients with discrete disease and the entire ascending aorta and arch branches of the two with diffuse disease. Medial dysplasia also involved the pulmonary arteries in each case, but less severely than the aorta. Dysplasia of coronary arteries was observed in all five hearts and was more obstructive proximally than distally, in cases with diffuse than discrete aortic disease, and in the adult than in the two children with discrete supravalvular aortic stenosis. All major epicardial arteries were involved, without predilection for any particular vessel. In contrast to the great arteries, coronary artery dysplasia involved all three layers, not just the media. To varying degrees, vessels showed intimal hyperplasia, fibrosis, and disorganization (dysplasia); disruption and loss of the internal elastic membrane, with indistinct intimal-medial junctions; medial hypertrophy and dysplasia; and adventitial fibroelastosis. In severe cases, the microscopic structure resembled that of the ductus arteriosus. Acute intramedial dissections were observed in the ascending aorta and distal right coronary artery in one patient each. Chronic microfocal ischemic fibrosis was identified in the subendocardium and papillary muscles of the left ventricle in four patients, and the adult patient also had an acute myocardial infarction. In summary, these findings emphasize the extraaortic extent of supravalvular aortic stenosis and the development of ischemic heart disease even in childhood. The presence of severe coronary obstruction in the adult with discrete aortic disease suggests that chronic high pulsatile coronary blood pressure may favor the proliferation of dysplastic tissue. Early surgical intervention may minimize the degree of proliferation, as well as allow regression of left ventricular hypertrophy, thereby lessening the risk of myocardial ischemia and aortic dissection.
在五例有尸检组织的主动脉瓣上狭窄患者中，均为男性，年龄在1.5岁至39岁之间（平均10岁，中位数3岁），其中四名儿童患有威廉姆斯-贝伦综合征（两例家族性，两例散发性）。三例局限性病变患者的主动脉窦管交界处以及两例弥漫性病变患者的整个升主动脉和主动脉弓分支均表现为中层增厚和发育异常（结构紊乱）。中层发育异常在每种情况下也累及肺动脉，但程度较主动脉轻。在所有五个心脏中均观察到冠状动脉发育异常，且在弥漫性主动脉疾病患者中比局限性主动脉疾病患者近端阻塞更严重，在成人患者中比两名患有局限性主动脉瓣上狭窄的儿童更严重。所有主要的心外膜动脉均受累，无任何特定血管的偏好。与大动脉不同，冠状动脉发育异常累及所有三层，而不仅仅是中层。血管不同程度地表现为内膜增生、纤维化和结构紊乱（发育异常）；内弹性膜破坏和缺失，内膜-中层交界处不清晰；中层肥厚和发育异常；以及外膜纤维弹性组织增生。在严重的情况下，微观结构类似于动脉导管。在一名患者的升主动脉和一名患者的右冠状动脉远端观察到急性中层夹层。在四名患者的左心室心内膜下和乳头肌中发现慢性微灶性缺血性纤维化，成年患者还发生了急性心肌梗死。总之，这些发现强调了主动脉瓣上狭窄的主动脉外累及范围以及即使在儿童期也会发生缺血性心脏病。患有局限性主动脉疾病的成人中存在严重冠状动脉阻塞表明，慢性高搏动性冠状动脉血压可能有利于发育异常组织的增殖。早期手术干预可能会使增殖程度最小化，并使左心室肥厚消退，从而降低心肌缺血和主动脉夹层的风险。
