Clinical outcomes of aortic repair in young adult patients with ACTA2 mutations
Clinical outcomes of aortic repair in young adult patients with ACTA2 mutations
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DOI：
10.1007/s11748-017-0810-0
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发表时间：
2017-12-01
影响因子：
1.2
通讯作者：
Kobayashi, Junjiro
中科院分区：
文献类型：
--
作者：
Seike, Yoshimasa;Minatoya, Kenji;Kobayashi, Junjiro
肌动蛋白，α-2，平滑肌，主动脉（ACTA 2）突变是家族性胸主动脉瘤和夹层的主要原因之一。本研究的目的是回顾我们对ACTA 2突变引起的年轻成人主动脉疾病患者的临床结果。我们回顾了2004年至2014年期间251例因胸主动脉疾病接受手术的患者（< 50岁）的病历。其中，9例患者（3.5%）有ACTA 2突变。他们的平均年龄为35岁（范围22-47岁），2例患者（22.2%）为男性。没有患者符合马凡氏综合征的诊断标准。术前诊断包括瓣环-主动脉扩张（n = 2）、主动脉窦局限性夹层（n = 2）、急性B型主动脉夹层（n = 1）和慢性B型主动脉夹层（n = 4）。8例（88.9%）合并高血压，3例因慢性B型主动脉夹层残余行降主动脉置换术，行胸腹主动脉置换术。1例因复杂急性B型主动脉夹层行胸主动脉腔内修复术的患者，TEVAR术后7年未显示主动脉扩张。组织学结果显示大多数病例（7/8; 87.5%）为囊状中膜坏死（CMN），ACTA 2突变患者的手术结果令人满意。CMN是一个主要的组织学发现，只有一半的ACTA 2突变患者检测到主动脉事件的家族史。尽管除高血压外没有特征性的体格检查结果，但在年轻成人患者中，应考虑包括ACTA 2突变在内的结缔组织疾病与主动脉夹层的关系。
Actin, alpha-2, smooth muscle, aorta (ACTA2) mutations are one of the major causes of familial thoracic aortic aneurysms and dissections. The aim of this study was to review our clinical results of young adult patients with aortic disease caused by ACTA2 mutations.We reviewed the medical records of 251 patients (< 50 years old) who underwent surgery for thoracic aortic diseases between 2004 and 2014. Among them, nine patients (3.5%) had ACTA2 mutations. Their average age was 35 years (range 22-47) and two patients (22.2%) were males. No patients fulfilled the diagnostic criteria for Marfan syndrome. Preoperative diagnoses included annulo-aortic ectasia (n = 2), localized dissection of the sinus of Valsalva (n = 2), acute type B aortic dissection (n = 1), and chronic type B (n = 4). Eight patients (88.9%) had hypertension.A thoracoabdominal aortic replacement was required in three patients who had descending replacement for residual chronic type B aortic dissection. A patient who had thoracic endovascular aortic repair for complicated acute type B aortic dissection showed no aortic dilatation for 7 years after TEVAR. Histological results revealed cystic medial necrosis (CMN) in most cases (7/8; 87.5%).Surgical outcomes for patients with ACTA2 mutations were satisfactory. CMN was a major histological finding and family history of aortic event was detected in only half of the patients with ACTA2 mutations. Despite no characteristic physical findings besides hypertension, connective tissue disease including ACTA2 mutations should be considered for aortic dissection in young adult patients.