与转化生长因子β受体2（TGFBR2）突变相关的严重主动脉和动脉动脉瘤。
Severe aortic and arterial aneurysms associated with a TGFBR2 mutation.
作者信息
LeMaire Scott A, Pannu Hariyadarshi, Tran-Fadulu Van, Carter Stacey A, Coselli Joseph S, Milewicz Dianna M
机构信息
Division of Cardiothoracic Surgery, Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, Texas, USA.
出版信息
Nat Clin Pract Cardiovasc Med. 2007 Mar;4(3):167-71. doi: 10.1038/ncpcardio0797.
Abstract
BACKGROUND
A 24-year-old man presented with previously diagnosed Marfan's syndrome. Since the age of 9 years, he had undergone eight cardiovascular procedures to treat rapidly progressive aneurysms, dissection and tortuous vascular disease involving the aortic root and arch, the thoracoabdominal aorta, and brachiocephalic, vertebral, internal thoracic and superior mesenteric arteries. Throughout this extensive series of cardiovascular surgical repairs, he recovered without stroke, paraplegia or renal impairment.
INVESTIGATIONS
CT scans, arteriogram, genetic mutation screening of transforming growth factor beta receptors 1 and 2.
DIAGNOSIS
Diffuse and rapidly progressing vascular disease in a patient who met the diagnostic criteria for Marfan's syndrome, but was later rediagnosed with Loeys-Dietz syndrome. Genetic testing also revealed a de novo mutation in transforming growth factor beta receptor 2.
MANAGEMENT
Regular cardiovascular surveillance for aneurysms and dissections, and aggressive surgical treatment of vascular disease.
摘要
背景
一名24岁男性，此前被诊断患有马凡综合征。自9岁起，他已接受了8次心血管手术，以治疗迅速进展的动脉瘤、夹层以及累及主动脉根部和弓部、胸腹主动脉以及头臂、椎动脉、胸廓内动脉和肠系膜上动脉的迂曲血管疾病。在这一系列广泛的心血管外科修复手术中，他康复过程中未出现中风、截瘫或肾功能损害。
检查
CT扫描、动脉造影、转化生长因子β受体1和2的基因突变筛查。
诊断
一名符合马凡综合征诊断标准的患者患有弥漫性且迅速进展的血管疾病，但后来被重新诊断为洛伊迪茨综合征。基因检测还发现转化生长因子β受体2存在新发突变。
治疗
对动脉瘤和夹层进行定期心血管监测，并对血管疾病进行积极的手术治疗。
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