Circulation. Genomic and precision medicine · 2018
Impact of Pathogenic FBN1 Variant Types on the Progression of Aortic Disease in Patients With Marfan Syndrome.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Takeda Norifumi, Inuzuka Ryo, Maemura Sonoko, Morita Hiroyuki, Nawata Kan, Fujita Daishi, Taniguchi Yuki, Yamauchi Haruo, Yagi Hiroki, Kato Masayoshi, Nishimura Hiroshi, Hirata Yoichiro, Ikeda Yuichi, Kumagai Hidetoshi, Amiya Eisuke, Hara Hironori, Fujiwara Takayuki, Akazawa Hiroshi, Suzuki Jun-Ichi, Imai Yasushi, Nagai Ryozo, Takamoto Shinichi, Hirata Yasunobu, Ono Minoru, Komuro Issei
Аннотация
BACKGROUND: Marfan syndrome can cause life-threatening aortic complications. We investigated the relationship between FBN1 genotype and severe aortopathy (aortic root replacement, type A dissections, and related death).
METHODS: We evaluated 248 patients with pathogenic or likely pathogenic FBN1 variants. The variants were classified as haploinsufficient type (HI, n=93) or dominant-negative type (DN, n=155) based on their location and predicted amino acid alterations, and we examined the effects of the FBN1 genotype on severe aortic events (aortic root replacement, type A dissections, and related death).
RESULTS: The cumulative event-free probability was significantly lower in the HI group than in the DN group (adjusted hazard ratio, 2.1; 95% confidence interval, 1.4 -3.2; P<0.001).
CONCLUSIONS: DN-CD+HI patients should be monitored more carefully than DN-nonCD patients for rapid development of aortic root aneurysms.
METHODS: We evaluated 248 patients with pathogenic or likely pathogenic FBN1 variants. The variants were classified as haploinsufficient type (HI, n=93) or dominant-negative type (DN, n=155) based on their location and predicted amino acid alterations, and we examined the effects of the FBN1 genotype on severe aortic events (aortic root replacement, type A dissections, and related death).
RESULTS: The cumulative event-free probability was significantly lower in the HI group than in the DN group (adjusted hazard ratio, 2.1; 95% confidence interval, 1.4 -3.2; P<0.001).
CONCLUSIONS: DN-CD+HI patients should be monitored more carefully than DN-nonCD patients for rapid development of aortic root aneurysms.