Key result
Homozygous familial hypercholesterolaemia was associated with severe aortic stenosis in 66.7% of patients, whereas severe involvement occurred in only 2.6% of heterozygous patients.
Why the study?
Does the frequency and severity of valvar and supravalvar aortic stenosis differ between homozygous and heterozygous familial hypercholesterolaemia?
Population
84 consecutive outpatients with familial hypercholesterolaemia attending a lipid clinic at a tertiary…
Design
Cross-sectional
Authors
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HoFH confers far higher severe aortic stenosis risk than HeFH; hypothesis-generating for targeted screening and intervention trials.
Observational (n=84)
No
Does the frequency and severity of valvar and supravalvar aortic stenosis differ between homozygous and heterozygous familial hypercholesterolaemia?
Absolute Event Rate: 66.7% vs 2.6%
p-value: p=0.0001
Aortic stenosis is common in homozygous familial hypercholesterolaemia due to early high cholesterol exposure, whereas it is rare in heterozygotes and associated with prolonged severe hypercholesterolaemia.
Rallidis et al. (1998) conducted an observational in Familial hypercholesterolaemia (n=84). Homozygous familial hypercholesterolaemia vs. Heterozygous familial hypercholesterolaemia was evaluated on Calculated cholesterol × years score (CYS) and echocardiographic measurement of aortic root diameter, aortic valve thickness, and transaortic gradient (p=0.0001). Homozygous familial hypercholesterolaemia was associated with severe aortic stenosis in 66.7% of patients, whereas severe involvement occurred in only 2.6% of heterozygous patients.
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