Aksüt S V, Ozmen F, Oktay A, Ugurlu S, Oram E
Jpn Heart J. 1987 May;28(3):457-65. doi: 10.1536/ihj.28.457.
Premature atherosclerosis with a particular predilection to the coronary arteries is a well-known complication of homozygous familial hypercholesterolemia. However, well documented involvement of the aortic root and valve with aortic stenosis has not been recognized frequently antemortem. Clinical, echocardiographic, hemodynamic and angiographic features of a case with valvular and supravalvular aortic stenosis secondary to homozygous familial hypercholesterolemia are described. Surgical relief of the left ventricular outflow obstruction was not attempted because of the patient's refusal.
纯合子家族性高胆固醇血症的一个众所周知的并发症是过早出现动脉粥样硬化，且特别易累及冠状动脉。然而，主动脉根部和瓣膜受累伴主动脉瓣狭窄的情况在生前未被频繁识别且记录充分。本文描述了一例继发于纯合子家族性高胆固醇血症的瓣膜性和瓣膜上主动脉狭窄病例的临床、超声心动图、血流动力学和血管造影特征。由于患者拒绝，未尝试通过手术缓解左心室流出道梗阻。
