Associations of Age and Sex With Marfan Phenotype The National Heart, Lung, and Blood Institute GenTAC (Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions) Registry
Associations of Age and Sex With Marfan Phenotype The National Heart, Lung, and Blood Institute GenTAC (Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions) Registry
复制标题
DOI：
10.1161/circgenetics.116.001647
复制
发表时间：
2017-06-01
影响因子：
--
通讯作者：
Weinsaft, Jonathan W.
中科院分区：
文献类型：
--
作者：
Roman, Mary J.;Devereux, Richard B.;Weinsaft, Jonathan W.
背景：年龄和性别与马凡氏综合征表型特征的关系尚未在儿童和成人的大型队列中进行系统研究。方法和结果：我们评估了在国家心脏、肺和血液研究所GenTAC（遗传性胸主动脉瘤和心血管疾病）登记处登记的789例马凡患者（53%男性，平均年龄31岁[范围：1-86岁]）。根据骨骼成熟的平均年龄，>= 15岁的女性和>= 16岁的男性被认为是成年人。成人（n=606）比儿童（n=183）更有可能发生自发性气胸、脊柱侧凸和纹状纹，但在修订的根特系统评分、异位透镜和大多数表型特征（包括主动脉根部扩张的患病率）方面是相当的。预防性主动脉根部置换术和二尖瓣手术在儿童期和成年期比较少见（分别为2%对35%和1%对9%）
Background-The associations of age and sex with phenotypic features of Marfan syndrome have not been systematically examined in a large cohort of both children and adults.Methods and Results-We evaluated 789 Marfan patients enrolled in the National Heart, Lung, and Blood Institute GenTAC (Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions) Registry (53% male; mean age 31 [range: 1-86 years]). Females aged >= 15 and males aged >= 16 years were considered adults based on average age of skeletal maturity. Adults (n=606) were more likely than children (n=183) likely to have spontaneous pneumothorax, scoliosis, and striae but were comparable in revised Ghent systemic score, ectopia lentis, and most phenotypic features, including prevalence of aortic root dilatation. Prophylactic aortic root replacement and mitral valve surgery were rare during childhood versus adulthood (2% versus 35% and 1% versus 9%, respectively, both P