演題

Aortic Valve Calcification and Subclinical Coronary Atherosclerosis Using Computed Tomography in Japanese Heterozygous Familial Hypercholesterolemia Patients with Gene Mutation

[演者] Eri Yamamoto:1
[共同演者] Akiko Sakai:1, Haruki Sekiguchi:1, Kenji Fukushima:2, Michinobu Nagao:2, Kayoko Sato:1, Shuji Sakai:2, Nobuhisa Hagiwara:1
1:Department of Cardiology, Tokyo Women's Medical University, Tokyo, 2:Department of Diagnostic Imaging and Nuclear Medicine, Tokyo Women's Medical University, Tokyo

Introduction: Heterozygous familial hypercholesterolemia(hFH) is caused by mutations of FH genes. On the other hand, aortic valve calcification(AVC) is associated with an elevated risk of cardiovascular events.Objectives: To investigate the association between AVC and coronary plaque morphology related with gene mutation.Methods: We enrolled 42 hFH and 32 hypercholesterolemia(DL) patients and evaluated 320 detector row CT, ABI and PWV. The genotypes were analyzed using Illumina Mi-seq sequencer.Results: AVC was detected more frequently and AVC score was higher in hFH than in DL (p<0.05, respectively). AVC score was significantly associated with coronary artery plaque score (CAPS; p<0.01). In hFH, 27 patients(61.3%) had gene mutations. The gene mutation of LDLR, APOB, and PCSK9 was observed in each of 7, 6, and 8 hFH patients. The double gene mutation of LDLR and PCSK-9 was observed in 4.5% of hFH. hFH with LDLR or PCSK9 mutation had higher AVC score and CAPS. Furthermore, some of hFH had the gene mutation of ABCG5, ABCG8, or APOA5. Coronary atherosclerosis was more developed in hFH with polygenetic gene mutation.Conclusions: The AVC is developed and related to coronary plaque morphology using computed tomography in hFH, especially with LDLR or PCSK9 mutation. The genetic diagnosis of hFH is very helpful to assess severity of coronary atherosclerosis and to determine the treatment strategy for preventing the future cardiovascular events.

[Keywords] lipids / computed tomography (CT)
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