Br Heart J 1980 Oct;44(4):361-8

Cadiovascular complications of homozygous familial hypercholesterolaemia

Allen JM, Thompson GR, Myant NB, Steiner R, Oakley CM

Abstract
Seven patients with homozygous familial hypercholesterolaemia, two female and
five male, aged 12 to 25 years, underwent clinical and angiographic assessment
to define the associated cardiovascular abnormalities. Four patients had angina,
two 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 five of the seven patients had coronary ostial stenosis.
One patient died after an aortocoronary bypass and aortic valvotomy and two
others underwent aortocoronary bypass and aortic valve replacement, one of whom
also died after operation. The survivor and three 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