Cardiovascular complications of homozygous familial hypercholesterolaemia

Abstract

7 patients with homozygous familial hypercholesterolaemia, 2 female and 5 male, aged 12 to 25 years, underwent clinical and angiographic assessment to define the associated cardiovascular abnormalities. 4 patients had angina, 2 of whom also had syncope on exertion. All had an ejection systolic murmur but no ejection click and a loud aortic second sound. All but one had a systolic gradient between the left ventricle and aorta, ranging from 20 to 80 mmHg at the time of presentation. Angiography showed a characteristic narrowing of the aortic root in all and 5 of the 7 patients had coronary ostial stenosis. One patient died after an aortocoronary bypass and aortic valvotomy and 2 others underwent aortocoronary bypass and aortic valve replacement, one of whom also died after operation. The survivor and 3 other patients are now undergoing regular plasma exchange and remain well. The seventh patient died suddenly before the latter form of treatment could be started. These findings confirm that premature, severe atheroma of the aortic valve and root is a characteristic feature of homozygous familial hypercholesterolaemia and carries a high mortality.