Abstract：
Mutations of the transport and Golgi organization 2 (TANGO2) genes are linked with both long-term neurological decline and acute metabolic crises during stress, leading to significant anesthetic risk. Crises are marked by rhabdomyolysis, lactic acidosis, seizures, cardiac dysfunction, and dysrhythmias. Much is unknown about optimal management of this condition, especially in the acute and critical care settings. The following report describes the anesthetic challenges of a patient with simultaneous TANGO2 gene deletion, DiGeorge Syndrome, and Tetralogy of Fallot, who presented for an interventional cardiac procedure with the goal of metabolic crisis-avoidance and facilitation of safe but expeditious recovery and discharge home.
摘要：
运输和高尔基组织2（TANGO2）基因的突变与压力期间的长期神经衰退和急性代谢危机有关，导致显著的麻醉风险。危机的特点是横纹肌溶解,乳酸性酸中毒,癫痫发作,心功能不全,和节律紊乱.关于这种情况的最佳管理还有很多未知之处，特别是在急性和重症监护环境中。以下报告描述了同时TANGO2基因缺失的患者的麻醉挑战，DiGeorge综合征,和法洛四联症,他参加了心脏介入手术，目的是避免代谢危机，促进安全但迅速的康复和出院。
