Anesthetic Challenges in a Patient With TANGO2 Gene Deletion, DiGeorge Syndrome, and Tetralogy of Fallot: A Case Report

Wrobleski, Ivana; Gautam, Nischal K.; Hubbard, Richard

doi:10.1177/10892532221080946

Semin Cardiothorac Vasc Anesth

2022

DOI: 10.1177/10892532221080946

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Anesthetic Challenges in a Patient With TANGO2 Gene Deletion, DiGeorge Syndrome, and Tetralogy of Fallot: A Case Report

Ivana Wrobleski

Nischal K. Gautam

Richard Hubbard

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… Show more

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Cited by 3 publications

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References 7 publications

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“…Wrobleski et al elaborate on a case of congenital heart disease with TANGO2 gene deletion. 23 Fernando et al present a case of infectious endocarditis presenting with an incidental finding of perforation and shunting between the LV and right atrium (Gerbode defect). 24 These unique cases provide the reader with some insight into the clinical management of uncommon clinical situations.…”

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confidence: 99%

Cardiothoracic Anesthesiology: Novel Milestone and Renewed Opportunities

Pal

Abrams

Kertai

2022

Semin Cardiothorac Vasc Anesth

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As a journal focused on cardiothoracic anesthesia and solid organ transplantation, readers of SCVA are undoubtedly enthralled by recent advances in our ever-evolving fields. This year has been particularly momentous in this regard, including Griffith et al. reporting the first cardiac xenotransplantation with a genetically modified pig heart in January 2022, an incredible triumph across the fields of clinical transplantation, biotechnology, and genetic engineering. [1][2][3][4] A multitude of other relevant advancements have been made recently, and this issue of SCVA is affluent in such scientific progress; 6 original research manuscripts are published in this issue, along with a review article describing the value of cardiothoracic anesthesiologists in clinical outcomes after cardiac surgery and a variety of informative clinical challenges.Ariyo et al. present a brief review of value-added care by the cardiothoracic anesthesiologist (CTA). 5 Implementation science is defined as the complex field focusing on planning, influencing, and evaluating the adoption (or barriers) of evidence-based practices. 6 This includes principles of bundled implementation strategies, fidelity interventions, and critical drivers of change. The authors have highlighted certain cardiac surgery areas within the purview of cardiothoracic anesthesiologists to bring a change or make a difference. Not only do we need to understand more about the inflammatory effects of cardiopulmonary bypass, cognitive effects after cardiac surgery, transfusion, and coagulation, we need to understand and eradicate the barriers, if any, to improve the overall outcomes. 7,8 While scientific guidelines are the outcomes of scientific studies, catering to and addressing the local needs associated with incorporating the guidelines is the goal for implementation sciences. Cardiothoracic anesthesiologists hold that unique position, as opined by the authors.Similarly, Osman et al. present their initial experience establishing a specialized center in Lebanon for CTEPH therapy. 9 The authors must be congratulated on their successful endeavor as CTEPH surgery remains localized to only

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mentioning

confidence: 99%

Cardiothoracic Anesthesiology: Novel Milestone and Renewed Opportunities

Pal

Abrams

Kertai

2022

Semin Cardiothorac Vasc Anesth

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Multicenter appraisal of comorbid TANGO2 deficiency disorder in patients with 22q11.2 deletion syndrome

Owlett,

Zapanta,

Sandkuhler

et al. 2024

American J of Med Genetics Pt A

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TANGO2 deficiency disorder (TDD) is a rare, autosomal recessive condition caused by pathogenic variants in TANGO2, a gene residing within the region commonly deleted in 22q11.2 deletion syndrome (22q11.2DS). Although patients with 22q11.2DS are at substantially higher risk for comorbid TDD, it remains underdiagnosed within 22q11.2DS, likely due to overlapping symptomatology and a lack of knowledge about TDD. Initiation of B‐vitamin supplementation may provide therapeutic benefit in TDD, highlighting the need for effective screening methods to improve diagnosis rates in this at‐risk group. In this retrospective, multicenter study, we evaluated two cohorts of patients with 22q11.2DS (total N = 435) for possible comorbid TDD using two different symptom‐based screening methods (free text‐mining and manual chart review versus manual chart review alone). The methodology of the cohort 1 screening method successfully identified a known 22q11.2DS patient with TDD. Combined, these two cohorts identified 21 living patients meeting the consensus recommendation for TANGO2 testing for suspected comorbid TDD. Of the nine patients undergoing TANGO2 sequencing with del/dup analysis, none were ultimately diagnosed with TDD. Of the 12 deaths in the suspected comorbid TDD cohort, some of these patients exhibited symptoms (rhabdomyolysis, cardiac arrhythmia, or metabolic crisis) suspicious of comorbid TDD contributing to their death. Collectively, these findings highlight the need for robust prospective screening tools for diagnosing comorbid TDD in patients with 22q11.2DS.

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TANGO2 Deficiency Disorder: Two Cases of Developmental Delay Preceding Metabolic Crisis

Dias

Carvalho

Freixo

et al. 2023

Pediatric Neurology

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Anesthetic Challenges in a Patient With TANGO2 Gene Deletion, DiGeorge Syndrome, and Tetralogy of Fallot: A Case Report

Cited by 3 publications

References 7 publications

Cardiothoracic Anesthesiology: Novel Milestone and Renewed Opportunities

Cardiothoracic Anesthesiology: Novel Milestone and Renewed Opportunities

Multicenter appraisal of comorbid TANGO2 deficiency disorder in patients with 22q11.2 deletion syndrome

TANGO2 Deficiency Disorder: Two Cases of Developmental Delay Preceding Metabolic Crisis

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