Heart Transplantation for
            <i>TANGO2</i>
            -Related Metabolic Encephalopathy and Arrhythmia Syndrome–Associated Cardiomyopathy

Meisner, Joshua K.; Ames, Elizabeth G.; Ahmad, Ayesha; Si, Ming‐Sing; Schumacher, K.; Lim, Heang M.; Rabah, Raja; Peng, David M.

doi:10.1161/circgen.120.002928

Cited by 11 publications

(16 citation statements)

References 6 publications

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“…However, the association with Brugada pattern contraindicates this type of treatment. In our cohort, the patient who presented this association benefited from the implantation of an ICD while one patient in the literature required a heart transplantation 17 . Implantation of ICD could be discussed in primary prevention for very selected patients.…”

Section: Discussionmentioning

confidence: 90%

“…In our cohort, the patient who presented this association benefited from the implantation of an ICD while one patient in the literature required a heart transplantation. 17 Implantation of ICD could be discussed in primary prevention for very selected patients. However, since ICD therapy in young patients carries a lot of complications, its systematic indication as primary prevention in TANGO 2 patients is probably not conceivable.…”

Section: Discussionmentioning

confidence: 99%

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Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect

Bérat

Montealegre

Wiedemann

et al. 2020

J of Inher Metab Disea

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Section: Discussionmentioning

confidence: 90%

Section: Discussionmentioning

confidence: 99%

Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect

Bérat

Montealegre

Wiedemann

et al. 2020

J of Inher Metab Disea

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“… Note : Common clinical features summarized from the cases in this study plus a review of the literature ( n = 92) (Bérat et al, 2021; Dines et al, 2018; Ewans et al, 2018; Hoebeke et al, 2021; Jennions et al, 2019; Kremer et al, 2016; Lalani et al, 2016; Meisner et al, 2020; Mingirulli et al, 2019; Powell et al, 2021; Riazuddin et al, 2017; Scuotto et al, 2020; Sen, Hicks, Huq, & Agarwal, 2019). …”

Section: Resultsmentioning

confidence: 96%

“…Patients with TANGO2 deficiency are at increased risk for developing acute cardiac dysfunction and therefore close monitoring for potential life‐threatening arrhythmias including prolonged QT during times of stress or illness may help recognize those at risk and prevent sudden cardiac death in children. Recent case reports have also discussed the potential therapeutic benefits of antiarrhythmics, implantable cardiac defibrillators and advanced cardiac interventions including extracorporeal membrane oxygenation or left ventricular assist device as potential therapeutic options that may serve as a bridge to clinical stabilization or in rare cases, heart transplant (Meisner et al, 2020; Scuotto et al, 2020). While normalization of cardiac dysfunction during times of wellness has been a common phenomenon, also noted in the patients in this series, access to a care center with advanced cardiac capabilities may provide life‐saving management options during critical illness.…”

Section: Discussionmentioning

confidence: 99%

“…2). He is managed with levocarnitine, riboflavin, calcium carbonate, vitamin C, and vitamin D. (Bérat et al, 2021;Dines et al, 2018;Ewans et al, 2018;Hoebeke et al, 2021;Jennions et al, 2019;Kremer et al, 2016;Lalani et al, 2016;Meisner et al, 2020;Mingirulli et al, are seen in 42% (25/59 individuals) and elevations in urine dicarboxylic acids are seen in 39% (17/44 individuals) (Table 4 and Table S1).…”

Section: Laboratory Investigations Imaging and Genetic Testingmentioning

confidence: 99%

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Variable clinical severity in TANGO2 deficiency: Case series and literature review

Schymick

Leahy

Cowan

et al. 2021

American J of Med Genetics Pt A

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Biallelic pathogenic variants in the TANGO2 (transport and Golgi organization 2 homolog) gene have been identified as causing a rare metabolic disorder characterized by susceptibility to recurrent rhabdomyolysis, lactic acidosis, encephalopathy, and life-threatening tachyarrhythmias. Recently published reports suggest variable clinical severity and phenotypes. This study details five new patients from two families with biallelic pathogenic variants in the TANGO2 gene identified by whole exome sequencing and includes the largest number of affected individuals from a single family reported to date. We document significant intrafamilial variability and highlight that milder phenotypes may be underrecognized. We present biochemical and clinical data to help highlight the features that aid in consideration of this condition in the differential with disorders of fatty acid oxidation. We also present a comprehensive literature review summarizing the molecular, clinical, and biochemical findings for 92 individuals across 13 publications. Of the 27 pathogenic variants reported to date, the recurrent exons 3-9 deletion represents the most common variant seen in 42% of individuals with TANGO2 deficiency. Common clinical features seen in >70% of all individuals include acute metabolic crisis, rhabdomyolysis, neurologic abnormalities, developmental delay, and intellectual disability. Findings such as elevated creatine kinase, hypothyroidism, ketotic hypoglycemia, QT prolongation, or abnormalities of long-chain acylcarnitines and urine dicarboxylic acids should raise clinical suspicion for this life-threatening condition.

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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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Heart Transplantation for TANGO2 -Related Metabolic Encephalopathy and Arrhythmia Syndrome–Associated Cardiomyopathy

Cited by 11 publications

References 6 publications

Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect

Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect

Variable clinical severity in TANGO2 deficiency: Case series and literature review

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

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