Rouffy J, Bouthillier D, Chanu B, Bakir R, Acar J, Cabrol C, Chomette G
Ann Med Interne (Paris). 1981;132(5):316-8.
A 56-year-old woman with familial heterozygous type II hyperlipoproteinaemia and tendinous xanthomas, presented the unusual findings of acquired supravalvular aortic stenosis associated with a congenital stenosis of the orifice. Analysis of clinical, paraclinical, and particularly pathological data confirmed the existence of several associated lesions: congenital hypoplasia of the aortic ring and proximal aorta, calcified valve stenosis probably increased by the dyslipidaemia, and finally and principally, supravalvular stenosis formed of a veritable circular rim of atheromatous material, making up a second haemodynamic obstacle. It is probable that the pre-existing congenital aortic lesions in this case, apart from the hyperlipoproteinaemia, account for the observation, not previously reported in a heterozygous type II hyperlipoproteinaemia, of massive supravalvular atheromatous deposits. This latter of acquired lesion is described in 9 cases reported in the literature with a homozygous form of familial hypercholesterolaemic xanthomatosis, the atheromatous deposits in the proximal aorta appearing earlier in these patients, and in the absence of pre-existing anatomical anomalies.
一名56岁患有家族性杂合子II型高脂蛋白血症和肌腱黄色瘤的女性，出现了后天性主动脉瓣上狭窄合并先天性瓣口狭窄的罕见表现。对临床、辅助检查尤其是病理数据的分析证实存在多种相关病变：主动脉环和近端主动脉先天性发育不全、钙化性瓣膜狭窄可能因血脂异常而加重，最后也是主要的，主动脉瓣上狭窄由真正的粥样物质环形边缘构成，形成了第二个血流动力学障碍。在这种情况下，除了高脂蛋白血症外，先前存在的先天性主动脉病变可能是导致观察到大量主动脉瓣上粥样硬化沉积的原因，这种情况在杂合子II型高脂蛋白血症中以前未曾报道过。文献报道的9例纯合子型家族性高胆固醇血症性黄色瘤病中有后天性病变的描述，这些患者近端主动脉的粥样硬化沉积出现得更早，且不存在先前存在的解剖学异常。
