Atheromatous lesions of the proximal aorta. Severe complications of homozygous type IIa hypercholesterolemia in children

: Coronary lesions with atheromatous deposits occurring in later childhood characterize homozygous type IIa hypercholesterolaemia and condition the somber prognosis of a disease which affects one subject in a million. However, aortic lesions are constantly found, as shown by routine ultrasonographic and angiographic studies in these children. The walls of the proximal aorta are cardboard-like and thick, the origin of the aorta is narrow and the semilunar aortic valves are thickened. The valvular or supravalvular aortic gradient may be considerable; it is often progressive, but is sometimes stabilized or made regressive by medical treatments combined with plasmapheresis or porto-caval shunt. Aortoplasty or aortic valve replacement being difficult to perform in these patients, more aggressive therapeutic procedures, such as liver or heart transplantation, have been suggested. The last generation cholesterol-lowering drugs seem to offer some hope of success.