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- W4378234920 abstract "Abstract Funding Acknowledgements Type of funding sources: None. Background TANGO2-deficiency disorder (TDD) is a rare paediatric condition caused by bi-allelic mutations in the TANGO2 gene. TDD is characterised by susceptibility to metabolic crises with rhabdomyolysis, encephalopathy, lactic acidosis, hypothyroidism and difficult to manage tachyarrhythmias. Aim We describe the electrocardiographic (ECG) findings at baseline and during metabolic crises in patients with TDD. Methods Retrospective, single-centre, case series study of patients with TDD (<18 years), with ECG and subcutaneous Holter monitoring, both during metabolic crises and compensated phases. Results During the period 2013-2021, 12 patients with TDD were found (median age 6.8 years, IQR 2-11.5 years). In the inter-crisis period, bradyarrhythmias were evidenced: 2/12 patients presented sinus bradycardia, 2/12 pauses of 4 and 10 seconds, 1/12 Wenckebach type block; and tachyarrhythmias: 1/12 presented paroxysmal supraventricular tachycardia and 1/12 flutter. 25% had long QT during non-acute phases (median QTc max 476 ms, IQR 456ms-530ms). There were 14 hospitalisations for metabolic crises. 57.1% had QTc interval prolongation, 35.7% ventricular tachycardias (4/14 monomorphic VT, 1/14 torsade de prongs) and 1/14 Brugada type 3 pattern. Three patients died in the context of severe metabolic acidosis and multi-organ involvement (2/12 due to VT and 1/12 due to cardiogenic shock, bradycardia associated with QTc of 635ms and severe ventricular dysfunction). Conclusions In paediatric patients with TDD, the most frequent ECG abnormality was QTc interval prolongation with or without metabolic crises. There is a high risk of tachyarrhythmias, mainly VT, being the main cause of death in children with TDD. Subcutaneous Holter monitoring is recommended. During metabolic crises, there should be close ECG monitoring." @default.
- W4378234920 created "2023-05-26" @default.
- W4378234920 creator A5007821607 @default.
- W4378234920 date "2023-05-24" @default.
- W4378234920 modified "2023-09-27" @default.
- W4378234920 title "Management of cardiac arrhythmias in paediatric patients with TANGO2-deficiency disorder" @default.
- W4378234920 doi "https://doi.org/10.1093/europace/euad122.351" @default.
- W4378234920 hasPublicationYear "2023" @default.
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