Ivana Wrobleski, Nischal K. Gautam, Richard M. Hubbard
{"title":"TANGO2基因缺失、DiGeorge综合征和法洛四联症患者的麻醉挑战:一例报告","authors":"Ivana Wrobleski, Nischal K. Gautam, Richard M. Hubbard","doi":"10.1177/10892532221080946","DOIUrl":null,"url":null,"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.","PeriodicalId":46500,"journal":{"name":"Seminars in Cardiothoracic and Vascular Anesthesia","volume":"26 1","pages":"241 - 244"},"PeriodicalIF":1.1000,"publicationDate":"2022-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"2","resultStr":"{\"title\":\"Anesthetic Challenges in a Patient With TANGO2 Gene Deletion, DiGeorge Syndrome, and Tetralogy of Fallot: A Case Report\",\"authors\":\"Ivana Wrobleski, Nischal K. Gautam, Richard M. Hubbard\",\"doi\":\"10.1177/10892532221080946\",\"DOIUrl\":null,\"url\":null,\"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.\",\"PeriodicalId\":46500,\"journal\":{\"name\":\"Seminars in Cardiothoracic and Vascular Anesthesia\",\"volume\":\"26 1\",\"pages\":\"241 - 244\"},\"PeriodicalIF\":1.1000,\"publicationDate\":\"2022-05-20\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"2\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Seminars in Cardiothoracic and Vascular Anesthesia\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1177/10892532221080946\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"ANESTHESIOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Seminars in Cardiothoracic and Vascular Anesthesia","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1177/10892532221080946","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"ANESTHESIOLOGY","Score":null,"Total":0}
Anesthetic Challenges in a Patient With TANGO2 Gene Deletion, DiGeorge Syndrome, and Tetralogy of Fallot: A Case Report
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.