Seike Yoshimasa, Minatoya Kenji, Sasaki Hiroaki, Tanaka Hiroshi, Itonaga Tatsuya, Inoue Yosuke, Morisaki Hiroko, Morisaki Takayuki, Ishibashi-Ueda Hatsue, Kobayashi Junjiro
Department of Cardiovascular Surgery, National Cerebral and Cardiovascular Center, 5-7-1 Fujishiro-dai, Suita, Osaka, 565-8565, Japan.
Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center, Suita, Japan.
Gen Thorac Cardiovasc Surg. 2017 Dec;65(12):686-691. doi: 10.1007/s11748-017-0810-0. Epub 2017 Aug 14.
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.
α-2平滑肌肌动蛋白（ACTA2）突变是家族性胸主动脉瘤和夹层的主要病因之一。本研究旨在回顾我们对由ACTA2突变引起的主动脉疾病的年轻成年患者的临床治疗结果。
我们回顾了2004年至2014年间接受胸主动脉疾病手术的251例患者（年龄<50岁）的病历。其中，9例患者（3.5%）存在ACTA2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。没有患者符合马凡综合征的诊断标准。术前诊断包括主动脉瓣环扩张（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（n = 4）。8例患者（88.9%）患有高血压。
3例因残余慢性B型主动脉夹层行降主动脉置换术的患者需要进行胸腹主动脉置换。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在TEVAR术后7年未出现主动脉扩张。组织学结果显示大多数病例（7/8；87.5%）存在囊性中层坏死（CMN）。
ACTA2突变患者的手术效果令人满意。CMN是主要的组织学发现，仅一半的ACTA2突变患者有主动脉事件家族史。尽管除高血压外无特征性体征，但对于年轻成年患者的主动脉夹层，应考虑包括ACTA2突变在内的结缔组织疾病。
