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Heart 1998;80:583-590; doi:10.1136/hrt.80.6.583
Copyright © 1998 BMJ Publishing Group Ltd & British Cardiovascular Society

Heart 1998;80:583-590 ( December )

Extent and severity of atherosclerotic involvement of the aortic valve and root in familial hypercholesterolaemia

L Rallidis,a R P Naoumova,b G R Thompson,b P Nihoyannopoulosa

a Cardiology Department, Imperial College School of Medicine, National Heart and Lung Institute, Hammersmith Hospital, Du Cane Road, London W12 0NN, UK, b MRC Lipoprotein Team, Clinical Sciences Centre, Imperial College School of Medicine

Correspondence to: Dr Nihoyannopoulos. email: petros{at}rpms.ac.uk

Accepted for publication 14 July 1998

Objective---To compare the frequency of valvar and supravalvar aortic stenosis in homozygous and heterozygous familial hypercholesterolaemia (FH).
Design---Analysis of life time cholesterol exposure and prevalence of aortic atherosclerosis in 84 consecutive cases attending a lipid clinic.
Setting---A tertiary referral centre in London.
Patients---Outpatients with FH (six homozygous, 78 heterozygous).
Interventions---Maintenance of lipid lowering treatment.
Main outcome measures---Calculated cholesterol × years score (CYS) and echocardiographic measurement of aortic root diameter, aortic valve thickness, and transaortic gradient.
Results---Four homozygotes with a mean (SD) CYS of 387 (124) mmol/l × years had severe aortic stenosis (treatment started after seven years of age), whereas the other two had echocardiographic evidence of supravalvar thickening but no aortic valve stenosis (treatment started before three years of age). On multivariate analysis, mean transaortic gradient correlated significantly with CYS (mean = 523 (175) mmol/l × years) in heterozygotes (p = 0.0001), but only two had severe aortic valve and root involvement.
Conclusions---In patients with familial hypercholesterolaemia, aortic stenosis is common in homozygotes, and aortic root involvement is always present despite the lower CYS than in heterozygotes. It appears to be determined by short term exposure to high cholesterol concentrations in early life. Conversely, aortic root and valve involvement are rare in heterozygotes and occur only with severe, prolonged hypercholesterolaemia, possibly accelerating age related degenerative effects.

Keywords: familial hypercholesterolaemia;  aortic valve disease;  echocardiography

© 1998 by Heart
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