|کد مقاله||کد نشریه||سال انتشار||مقاله انگلیسی||ترجمه فارسی||نسخه تمام متن|
|5604585||1576103||2017||5 صفحه PDF||سفارش دهید||دانلود رایگان|
BackgroundMutations in the genes ENG, ACVRL1 and SMAD4 that are part of the transforming growth factor-beta signalling pathway cause hereditary haemorrhagic telangiectasia (HHT). Mutations in non-HHT genes within this same pathway have been found to associate with aortic dilation. Therefore, we investigated the presence of aortic dilation in a large cohort of HHT patients as compared to non-HHT controls.MethodsChest computed tomography of consecutive HHT patients (ENG, ACVRL1 and SMAD4 mutation carriers) and non-HHT controls were reviewed. Aortic root dilation was defined as a z-scoreÂ >Â 1.96. Ascending and descending aorta dimensions were corrected for age, gender and body surface area.ResultsIn total 178 subjects (57.3% female, mean age 43.9Â Â±Â 14.9Â years) were included (32 SMAD4, 47 ENG, 50 ACVRL1 mutation carriers and 49 non-HHT controls). Aortopathy was present in a total of 42 subjects (24% of total). Aortic root dilatation was found in 31% of SMAD4, 2% of ENG, 6% of ACVRL1 mutation carriers, and 4% in non-HHT controls (pÂ <Â 0.001). The aortic root diameter was 36.3Â Â±Â 5.2Â mm in SMAD4 versus 32.7Â Â±Â 3.9Â mm in the non-SMAD4 group (pÂ =Â 0.001). SMAD4 was an independent predictor for increased aortic root (Î²-coefficient 3.5, pÂ <Â 0.001) and ascending aorta diameter (Î²-coefficient 1.6, pÂ =Â 0.04).ConclusionsSMAD4 gene mutation in HHT patients is independently associated with a higher risk of aortic root and ascending aortic dilation as compared to other HHT patients and non-HHT controls.
Journal: International Journal of Cardiology - Volume 245, 15 October 2017, Pages 114-118