[Tendinous hyperlipoproteinaemic xanthomatosis associated with supravalvular aortic xanthomatosis (author's transl)]

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.