Abstract:
BACKGROUND AND AIMS:Familial hypercholesterolaemia (FH) is characterised by a high, but variable risk of premature coronary artery disease (CAD). Cardiac computed tomography angiography (CCTA) can be employed to assess subclinical coronary atherosclerosis. We investigated the features and distribution of coronary artery plaques in asymptomatic patients with and without genetically confirmed heterozygous FH. METHODS:We undertook an aged-matched case-control study of asymptomatic phenotypic FH patients with (cases, M+) and without (controls, M-) an FH-causing mutation. Coronary atherosclerosis was assessed by CCTA and calcium scoring. Coronary segments were evaluated for global and vessel-level coronary plaques and degree of stenosis. RESULTS:We studied 104 cases and 104 controls (mean age 49.9 ± 10.4 years), who had a similar spectrum of non-cardiovascular risk factors. Pre-treatment plasma LDL-cholesterol was higher in the M+ than M- group (7.8 ± 2.1 vs 6.2 ± 1.2 mmol/L, p<0.001). There was a greater proportion of patients with mixed and calcified plaque, as well as a higher coronary artery calcium score and segment stenosis score (all p<0.05), in the M+ compared with the M- group. M+ patients also had a significantly higher frequency of coronary artery calcium in the left main and anterior descending and right coronary arteries (all p<0.05), but not in the left circumflex. CONCLUSIONS:Among patients with phenotypic FH, those with a genetically confirmed diagnosis had a higher frequency and severity of coronary atherosclerotic plaques, and specifically more advanced calcified plaques.
journal_name
Atherosclerosisjournal_title
Atherosclerosisauthors
Pang J,Abraham A,Vargas-García C,Bates TR,Chan DC,Hooper AJ,Bell DA,Burnett JR,Schultz CJ,Watts GFdoi
10.1016/j.atherosclerosis.2020.03.001subject
Has Abstractpub_date
2020-04-01 00:00:00pages
52-57eissn
0021-9150issn
1879-1484pii
S0021-9150(20)30122-2journal_volume
298pub_type
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