Cardiothoracic imaging findings of Proteus syndrome.
Cardiothoracic imaging findings of Proteus syndrome.
复制标题
DOI：
10.1038/s41598-021-86029-0
复制
发表时间：
2021-03-22
影响因子：
4.6
通讯作者：
Sirajuddin A
中科院分区：
文献类型：
--
作者：
Mirmomen SM;Arai AE;Turkbey EB;Bradley AJ;Sapp JC;Biesecker LG;Sirajuddin A
In this work, we sought to delineate the prevalence of cardiothoracic imaging findings of Proteus syndrome in a large cohort at our institution. Of 53 individuals with a confirmed diagnosis of Proteus syndrome at our institution from 10/2001 to 10/2019, 38 individuals (men, n = 23; average age = 24 years) underwent cardiothoracic imaging (routine chest CT, CT pulmonary angiography and/or cardiac MRI). All studies were retrospectively and independently reviewed by two fellowship-trained cardiothoracic readers. Disagreements were resolved by consensus. Differences between variables were analyzed via parametric and nonparametric tests based on the normality of the distribution. The cardiothoracic findings of Proteus syndrome were diverse, but several were much more common and included: scoliosis from bony overgrowth (94%), pulmonary venous dilation (62%), band-like areas of lung scarring (56%), and hyperlucent lung parenchyma (50%). In addition, of 20 individuals who underwent cardiac MRI, 9/20 (45%) had intramyocardial fat, mostly involving the endocardial surface of the left ventricular septal wall. There was no statistically significant difference among the functional cardiac parameters between individuals with and without intramyocardial fat. Only one individual with intramyocardial fat had mildly decreased function (LVEF = 53%), while all others had normal ejection fraction.
登录
查看更多内容
影响因子：
3.3
作者：
Kellman, Peter;Hernando, Diego;Shah, Saurabh;Zuehlsdorff, Sven;Jerecic, Renate;Mancini, Christine;Liang, Zhi-Pei.;Arai, Andrew E.
通讯作者：
Arai, Andrew E.
DOI：
10.1002/ajmg.c.31735
发表时间：
2019-09-06
影响因子：
3.1
作者：
Keppler-Noreuil, Kim M.;Lozier, Jay;Biesecker, Leslie G.
通讯作者：
Biesecker, Leslie G.
影响因子：
37.8
作者：
Cerqueira, MD;Weissman, NJ;Verani, MS
通讯作者：
Verani, MS
影响因子：
2
作者：
Hannoush, H.;Sachdev, V.;Brofferio, A.;Arai, A. E.;LaRocca, G.;Sapp, J.;Sidenko, S.;Brenneman, C.;Biesecker, L. G.;Keppler-Noreuil, K. M.
通讯作者：
Keppler-Noreuil, K. M.
影响因子：
39.3
作者：
Marcus, Frank I.;McKenna, William J.;Zareba, Wojciech
通讯作者：
Zareba, Wojciech