{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T11:49:18Z","timestamp":1753876158037,"version":"3.41.2"},"reference-count":11,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2023,2,28]],"date-time":"2023-02-28T00:00:00Z","timestamp":1677542400000},"content-version":"vor","delay-in-days":29,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,2,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>TANGO2-related metabolic encephalopathy and arrhythmia are a rare, newly recognized, and likely under-diagnosed condition. First described in 2016, it is characterized by developmental delay and recurrent metabolic crisis. During these episodes, patients may present QTc prolongation and ventricular arrhythmias.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case summary<\/jats:title><jats:p>A 13-year-old female, with developmental delay, presented with severe rhabdomyolysis and an initially normal electrocardiogram (ECG). Due to the worsening of rhabdomyolysis, QTc prolongation was identified (QTc 570\u2005ms) and oral \u03b2-blocker therapy started. A non-sustained ventricular tachycardia developed, initially managed with magnesium and lidocaine. After a short period, an arrhythmic storm of polymorphic ventricular extrasystoles induced Torsade de Pointes (TdP) was triggered. A temporary percutaneous pacing lead was placed and esmolol infusion started. The electrical instability ran in parallel with the increasing severity of rhabdomyolysis and systolic ventricular function decline. Genetic testing identified a pathogenic variant in homozygosity in the TANGO2 gene. A stable sinus rhythm was achieved with metabolic and serum electrolytes optimization. ECG showed normalization of the QTc interval.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>The full TANGO2-related phenotype emerges over time and the prognosis is linked to the appearance of ECG abnormalities. QT interval prolongation can lead to life-threatening ventricular tachycardias. The arrhythmia mechanism seems to be secondary to metabolite build-up in cardiomyocytes, which can explain the cardiac phenotype during the crisis which subsides after their resolution. In these patients, avoiding bradycardia is fundamental, since long QT-related TdP seems to be triggered by bradycardia and short-long-short ventricular premature beats (VPB). During an acute metabolic crisis, the management of arrhythmias relies on metabolic control.<\/jats:p><\/jats:sec>","DOI":"10.1093\/ehjcr\/ytad044","type":"journal-article","created":{"date-parts":[[2023,1,30]],"date-time":"2023-01-30T21:20:42Z","timestamp":1675113642000},"source":"Crossref","is-referenced-by-count":2,"title":["The TANGO2 disease and the therapeutic challenge of acute arrhythmia management: a case report"],"prefix":"10.1093","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6275-5105","authenticated-orcid":false,"given":"S\u00edlvia A","family":"Gomes","sequence":"first","affiliation":[{"name":"Servi\u00e7o de Cardiologia Pedi\u00e1trica, Hospital de Santa Marta, Centro Hospitalar e Universit\u00e1rio de Lisboa Central , Rua de Santa Marta 50, 1169-024 Lisboa , Portugal"},{"name":"Centro de Refer\u00eancia de Cardiopatias Cong\u00e9nitas do Centro Hospitalar e Universit\u00e1rio de Lisboa Central, Member of the European Reference Network for rare, low-prevalence, or complex diseases of the heart (ERN Guard-Heart) , Rua de Santa Marta, n\u00ba 50.1169-024 Lisboa , Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2169-4024","authenticated-orcid":false,"given":"S\u00e9rgio","family":"Laranjo","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Cardiologia Pedi\u00e1trica, Hospital de Santa Marta, Centro Hospitalar e Universit\u00e1rio de Lisboa Central , Rua de Santa Marta 50, 1169-024 Lisboa , Portugal"},{"name":"Centro de Refer\u00eancia de Cardiopatias Cong\u00e9nitas do Centro Hospitalar e Universit\u00e1rio de Lisboa Central, Member of the European Reference Network for rare, low-prevalence, or complex diseases of the heart (ERN Guard-Heart) , Rua de Santa Marta, n\u00ba 50.1169-024 Lisboa , Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5806-8831","authenticated-orcid":false,"given":"Concei\u00e7\u00e3o","family":"Trigo","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Cardiologia 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