Roman Mary J, Devereux Richard B, Preiss Liliana R, Asch Federico M, Eagle Kim A, Holmes Kathryn W, LeMaire Scott A, Maslen Cheryl L, Milewicz Dianna M, Morris Shaine A, Prakash Siddharth K, Pyeritz Reed E, Ravekes William J, Shohet Ralph V, Song Howard K, Weinsaft Jonathan W
From the Division of Cardiology, Weill Cornell Medicine, New York, NY (M.J.R., R.B.D., J.W.W.); Biostatistics and Epidemiology Division, RTI International, Rockville, MD (L.R.P.); MedStar Cardiovascular Research Network, Washington, DC (F.M.A.); Division of Cardiology, University of Michigan Health System, Ann Arbor (K.A.E.); Department of Pediatrics (K.W.H.), Division of Cardiothoracic Surgery (H.K.S.), and Knight Cardiovascular Institute (C.L.M.), Oregon Health & Science University, Portland; Division of Cardiothoracic Surgery (S.A.L.) and Division of Pediatric Cardiology, Department of Pediatrics (S.A.M.), Baylor College of Medicine, Houston, TX; Department of Cardiovascular Surgery, Texas Heart Institute, Houston (S.A.L.); Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center, San Antonio (D.M.M., S.K.P.); Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia (R.E.P.); Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD (W.J.R.); and Department of Medicine, John A. Burns School of Medicine, Honolulu, HI (R.V.S.).
Circ Cardiovasc Genet. 2017 Jun;10(3). doi: 10.1161/CIRCGENETICS.116.001647.
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.
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 <0.0001). Adult males were more likely than females to have aortic root dilatation (92% versus 84%), aortic regurgitation (55% versus 36%), and to have undergone prophylactic aortic root replacement (47% versus 24%), all <0.001. Prevalence of previous aortic dissection tended to be higher in males than females (25% versus 18%, =0.06); 44% of dissections were type B. Type B dissection was strongly associated with previous prophylactic aortic root replacement.
Pulmonary, skeletal, and aortic complications, but not other phenotypic features, are more prevalent in adults than children in Marfan syndrome. Aortic aneurysms and prophylactic aortic surgery are more common in men. Aortic dissection, commonly type B, occurs in an appreciable proportion of Marfan patients, especially in men and after previous prophylactic aortic root replacement.
在包含儿童和成人的大型队列中，尚未系统研究年龄和性别与马方综合征表型特征之间的关联。
我们评估了纳入美国国立心肺血液研究所GenTAC（基因触发胸主动脉瘤和心血管疾病）注册研究的789例马方综合征患者（53%为男性；平均年龄31岁[范围：1 - 86岁]）。根据骨骼成熟的平均年龄，年龄≥15岁的女性和年龄≥16岁的男性被视为成年人。与儿童（n = 183）相比，成年人（n = 606）更易出现自发性气胸、脊柱侧弯和萎缩纹，但在修订的根特系统评分、晶状体异位以及包括主动脉根部扩张患病率在内的大多数表型特征方面相当。与成年期相比，儿童期预防性主动脉根部置换术和二尖瓣手术很少见（分别为2%对35%以及1%对9%，两者均P<0.0001）。成年男性比女性更易出现主动脉根部扩张（92%对84%）、主动脉反流（55%对36%），并且更易接受预防性主动脉根部置换术（47%对24%），所有这些差异均P<0.001。既往主动脉夹层的患病率男性往往高于女性（25%对18%，P = 0.06）；44%的夹层为B型。B型夹层与既往预防性主动脉根部置换术密切相关。
在马方综合征中，肺部、骨骼和主动脉并发症在成年人中比儿童中更普遍，但其他表型特征并非如此。主动脉瘤和预防性主动脉手术在男性中更常见。主动脉夹层，通常为B型，在相当比例的马方综合征患者中发生，尤其是男性以及既往接受预防性主动脉根部置换术后的患者。
