Department of Pediatrics, Division of Pediatric Cardiology, Texas Children's Hospital and Baylor College of Medicine, Houston, Texas; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston Texas.
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Heart Rhythm. 2022 Oct;19(10):1673-1681. doi: 10.1016/j.hrthm.2022.05.009. Epub 2022 May 11.
TANGO2 deficiency disorder (TDD) is an autosomal recessive disease associated with metabolic crisis, lethal cardiac arrhythmias, and cardiomyopathy. Data regarding treatment, management, and outcomes of cardiac manifestations of TDD are lacking.
The purpose of this study was to describe TDD-related cardiac crises.
Retrospective multicenter chart review was made of TDD patients admitted with cardiac crises, defined as development of ventricular tachycardia (VT), cardiomyopathy, or cardiac arrest during metabolic crises.
Twenty-seven children were admitted for 43 cardiac crises (median age 6.4 years; interquartile range [IQR] 2.4-9.8 years) at 14 centers. During crisis, QTc prolongation occurred in all (median 547 ms; IQR 504-600 ms) and a type I Brugada pattern in 8 (26%). Arrhythmias included VT in 21 (78%), supraventricular tachycardia in 3 (11%), and heart block in 1 (4%). Nineteen patients (70%) developed cardiomyopathy, and 20 (74%) experienced a cardiac arrest. There were 10 deaths (37%), 6 related to arrhythmias. In 5 patients, recalcitrant VT occurred despite use of antiarrhythmic drugs. In 6 patients, arrhythmias were controlled after extracorporeal membrane oxygenation (ECMO) support; 5 of these patients survived. Among 10 patients who survived VT without ECMO, successful treatment included intravenous magnesium, isoproterenol, and atrial pacing in multiple cases and verapamil in 1 patient. Initiation of feeds seemed to decrease VT events.
TDD-related cardiac crises are associated with a high risk of arrhythmias, cardiomyopathy, cardiac arrest, and death. Although further studies are needed, early recognition and appropriate treatment are critical. Acutely, intravenous magnesium, isoproterenol, atrial pacing, and ECMO as a last resort seem to be the best current treatment options, and early initiation of feeds may prevent VT events.
TANGO2 缺乏症（TDD）是一种常染色体隐性疾病，与代谢危机、致命性心律失常和心肌病有关。关于 TDD 心脏表现的治疗、管理和结果的数据尚缺乏。
本研究旨在描述 TDD 相关的心脏危象。
对因代谢危象期间发生室性心动过速（VT）、心肌病或心搏骤停而住院的 TDD 患者进行回顾性多中心病历回顾。
27 名儿童在 14 家中心因 43 次心脏危象（中位数年龄 6.4 岁；四分位距 [IQR] 2.4-9.8 岁）入院。在危象期间，所有患者均发生 QTc 延长（中位数 547ms；IQR 504-600ms），8 例（26%）发生 I 型 Brugada 图形。心律失常包括 21 例 VT（78%）、3 例室上性心动过速（11%）和 1 例心脏传导阻滞（4%）。19 例（70%）患者发生心肌病，20 例（74%）患者发生心脏骤停。10 例（37%）死亡，6 例与心律失常有关。5 例患者尽管使用了抗心律失常药物，但仍出现顽固性 VT。6 例患者在体外膜氧合（ECMO）支持下心律失常得到控制；其中 5 例患者存活。在未接受 ECMO 治疗的 10 例 VT 患者中，成功的治疗包括静脉注射镁、异丙肾上腺素和心房起搏，在多个病例中使用，1 例患者使用维拉帕米。开始喂养似乎可以减少 VT 事件。
TDD 相关的心脏危象与心律失常、心肌病、心脏骤停和死亡的风险很高。尽管需要进一步研究，但早期识别和适当的治疗至关重要。急性情况下，静脉注射镁、异丙肾上腺素、心房起搏和作为最后手段的 ECMO 似乎是目前最好的治疗选择，早期开始喂养可能预防 VT 事件。
