Patients with familial hypercholesterolemia (FH) were found to have higher aortic valve velocity, lower aortic valve area (AVA), and higher levels of a set of inflammatory biomarkers compared with healthy individuals, according to a study published in the Journal of Clinical Lipidology.

In this cross-sectional study, cardiac ultrasound was used to assess aortic valve measures, and levels of inflammatory markers were determined in nonfasting blood samples.

A total of 64 patients with FH and high levels of lipoporotein (a) (Lp[a]; n=29; mean age, 49 years; 59% women) or low levels of Lp(a) (n=35; mean age, 49 years; 51% women) and 14 healthy controls (mean age, 44 years; 57% women) were included.

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In this cohort, patients with vs without FH had greater aortic valve peak velocity (P =.02) and lower AVA (P =.04), differences which were no longer present in multivariable linear regression analysis.

Aortic valve parameters were comparable in participants with FH and high vs low Lp(a). Patients with FH had higher levels of platelet-derived markers CD40L, PF4, NAP2, and RANTES compared with controls (.003 ≤ P ≤ .03), a difference which persisted after multiple linear regression analysis.

“Our findings are interesting in several aspects,” the investigators commented. “Firstly, the study participants are relatively young, with a mean age just below 50 years. Finding an increased aortic valve peak velocity and reduced AVA in this relatively young patient group is interesting, as aortic stenosis is considered to be a disease mainly of older persons…. Secondly, the subjects with FH were quite well-treated, with a median LDL-C of 2.8 mmol/L (2.6 and 2.9 mmol/L in the group with and without elevated Lp[a] respectively), only slightly above current recommendations, but better than ‘’real-life’’ clinical data of 3.5 mmol/L in normal-risk FH.”

Study limitations include the low number of participants, especially controls, which increases the probability of type 1 and 2 errors. Also, control group participants were leaner and had lower blood pressure, which may have affected the results.

“As aortic stenosis is considered to be a disease mainly of older persons, therefore, our finding of increased peak aortic valve velocity and reduced AVA in these middle-aged [patients with FH] may reflect an early phase of aortic valve area reduction, which may lead to aortic stenosis later on.”

Disclosures: Some of the authors reported affiliations with pharmaceutical companies. Please see the original reference for a full list of disclosures.


Hovland A, Narverud I, Kristin L, et al. Subjects with familial hypercholesterolemia have lower aortic valve area and higher levels of inflammatory biomarkers [published online December 16, 2020]. J Clin Lipidol. doi: 10.1016/j.jacl.2020.12.006