Johnson Judy G, Bray Jacob P, Risher William H, Kaye Alan David
Middle East J Anaesthesiol. 2016 Jun;23(5):569-76.
Loeys-Dietz syndrome (LDS) is a rare autosomal dominant disease related to genetic mutations in receptors for the cytokine transforming growth factor-receptor type 1 (TGFB-R1) or 2 gene (TGFB-R2) on the cell surface. LDS results in abnormal protein synthesis and dysfunctional connective tissue, which can result in unique cardiovascular anesthesia challenges related to perioperative management. Patients with LDS may manifest hypertelorism, bifid uvula or cleft palate, and arterial tortuosity. Virtually all LDS patients show some type of abnormal skin findings and bleeding tendency. These patients may show a rapid progression of aortic dilation, regurgitation, and a propensity towards rupture and/or dissection at a much earlier age and smaller aneurysm size. LDS patients who require surgical intervention require meticulous vigilance from the anesthesiologist. We describe a 26 year old patient with documented LDS type 1 who presented for repair of an ascending/root aneurysm in this case report. Recognition of LDS and intra-operative management of the cardiovascular manifestations of this disease is paramount in ensuring successful surgical outcome and to limit morbidity and mortality.
洛伊氏综合征（LDS）是一种罕见的常染色体显性疾病，与细胞表面细胞因子转化生长因子受体1（TGFB - R1）或2基因（TGFB - R2）的受体基因突变有关。LDS会导致蛋白质合成异常和结缔组织功能失调，这可能导致围手术期管理方面独特的心血管麻醉挑战。LDS患者可能表现为眼距过宽、悬雍垂裂或腭裂以及动脉迂曲。几乎所有LDS患者都有某种类型的皮肤异常表现和出血倾向。这些患者可能在更早的年龄和更小的动脉瘤尺寸时就出现主动脉扩张、反流迅速进展，以及破裂和/或夹层的倾向。需要手术干预的LDS患者需要麻醉医生进行细致的监测。在本病例报告中，我们描述了一名有记录的1型LDS的26岁患者，其因升主动脉/根部动脉瘤修复而就诊。认识LDS并对该疾病的心血管表现进行术中管理对于确保手术成功以及限制发病率和死亡率至关重要。
