Thoracic aortic aneurysm in patients with loss of function Filamin A mutations: Clinical characterization, genetics, and recommendations.
Thoracic aortic aneurysm in patients with loss of function Filamin A mutations: Clinical characterization, genetics, and recommendations.
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功能丝A突变损失的患者的胸动脉瘤：临床表征，遗传学和建议。
DOI：
10.1002/ajmg.a.38580
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发表时间：
2018-03
期刊：
影响因子：
--
通讯作者：
Walsh CA
中科院分区：
文献类型：
--
作者：
Chen MH;Choudhury S;Hirata M;Khalsa S;Chang B;Walsh CA
胸主动脉瘤作为功能丧失（LOF）X连锁细丝蛋白A（FLNA）突变的心血管表现的频率和性别分布尚不清楚。此外，儿童和成人的心血管发病率或死亡率数据非常有限。我们分析了114例LOF FLNA突变患者的心脏数据，包括儿童和成人，患有室周结节性异位症（PVNH），包括48例研究患者和66例文献患者，中位年龄为22.0岁（88 F，26 M，范围：0 - 71岁），在80个家庭中观察到75个FLNA突变。大多数（64.9%）受试者有心脏异常或血管异常（80.8%的男性和60.2%的女性）。18.4%（n= 21）发现胸主动脉瘤（TAA），57.1%的患者与其他结构性心脏畸形相关，最常见的是动脉导管未闭（PDA）和瓣膜异常。TAA最常累及主动脉根和升主动脉，几乎一半与主动脉窦瘤相关。6例TAA患者（28.5%）需要手术（中位年龄37岁，范围14 - 41岁）。TAA也是成人（2例男性，2例女性）过早、非意外死亡的唯一记录原因，2例成人患者（1例女性，1例男性，中位年龄38.5岁）尸检时发现非预期主动脉破裂，主动脉尺寸小于目前对其他动脉病变手术的建议。来自LOF FLNA突变患者的最大系列数据强调了连续随访的重要性，以识别和管理这些潜在的破坏性心血管并发症。
The frequency and gender distribution of thoracic aortic aneurysm as a cardiovascular manifestation of loss-of-function (LOF) X-linked FilaminA (FLNA) mutations are not known. Furthermore, there is very limited cardiovascular morbidity or mortality data in children and adults. We analyzed cardiac data on the largest series of 114 patients with LOF FLNA mutations, both children and adults, with periventricular nodular heterotopia (PVNH), including 48 study patients and 66 literature patients, median age of 22.0 years (88F, 26M, range: 0 – 71 years), with 75 FLNA mutations observed in 80 families. Most (64.9%) subjects had a cardiac anomaly or vascular abnormality (80.8% of males and 60.2% of females). Thoracic aortic aneurysms (TAA) were found in 18.4% (n= 21), and were associated with other structural cardiac malformations in 57.1% of patients, most commonly patent ductus arteriosus (PDA) and valvular abnormalities. TAA most frequently involved the aortic root and ascending aorta, and were associated with sinus of Valsalva aneurysms in almost half. Six TAA patients (28.5%) required surgery (median age 37 yrs, range 14 – 41). TAA was also the only recorded cause of premature, non-accidental mortality in adults (2M, 2F), with unanticipated aortic rupture found on autopsy in 2 adult patients (1F, 1M, median 38.5 yrs), at aortic dimensions smaller than current recommendations for surgery for other aortopathies. Data from this largest series of LOF FLNA mutation patients underscore the importance of serial follow-up to identify and manage these potentially devastating cardiovascular complications.
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影响因子：
16.2
作者：
Eksioglu, YZ;Scheffer, IE;Walsh, CA
通讯作者：
Walsh, CA
影响因子：
5.4
作者：
Lindsay, Mark E.;Dietz, Harry C.
通讯作者：
Dietz, Harry C.
DOI：
10.1056/nejmoa1404731
发表时间：
2014-11-27
期刊：
The New England journal of medicine
影响因子：
--
作者：
Lacro RV;Dietz HC;Sleeper LA;Yetman AT;Bradley TJ;Colan SD;Pearson GD;Selamet Tierney ES;Levine JC;Atz AM;Benson DW;Braverman AC;Chen S;De Backer J;Gelb BD;Grossfeld PD;Klein GL;Lai WW;Liou A;Loeys BL;Markham LW;Olson AK;Paridon SM;Pemberton VL;Pierpont ME;Pyeritz RE;Radojewski E;Roman MJ;Sharkey AM;Stylianou MP;Wechsler SB;Young LT;Mahony L;Pediatric Heart Network Investigators
通讯作者：
Pediatric Heart Network Investigators
影响因子：
16.2
作者：
Fox, JW;Lamperti, ED;Walsh, CA
通讯作者：
Walsh, CA
影响因子：
3.2
作者：
Nakamura, Fumihiko;Stossel, Thomas P.;Hartwig, John H.
通讯作者：
Hartwig, John H.