Cardiac crises: Cardiac arrhythmias and cardiomyopathy during TANGO2 deficiency related metabolic crises.
Cardiac crises: Cardiac arrhythmias and cardiomyopathy during TANGO2 deficiency related metabolic crises.
复制标题
DOI：
10.1016/j.hrthm.2022.05.009
复制
发表时间：
2022-10
期刊：
影响因子：
5.5
通讯作者：
Zhang, Lilei
中科院分区：
文献类型：
--
作者：
Miyake, Christina Y.;Lay, Erica J.;Beach, Cheyenne M.;Ceresnak, Scott R.;Delauz, Caridad M.;Howard, Taylor S.;Janson, Christopher M.;Jardine, Kate;Kannankeril, Prince J.;Kava, Maina;Kim, Jeffrey J.;Liberman, Leonardo;Macicek, Scott L.;Pham, Tam Dam;Robertson, Terry;Valdes, Santiago O.;Webster, Gregory;Stephens, Sara B.;Milewicz, Diana M.;Azamian, Mahshid;Ehsan, Saad A.;Houck, Kimberly M.;Soler-Alfonso, Claudia;Glinton, Kevin E.;Tosur, Mustafa;Li, Na;Xu, Weiyi;Lalani, Seema R.;Zhang, Lilei
关键词：
TANGO 2缺乏症（TDD）是一种常染色体隐性遗传疾病，与代谢危象、致死性心律失常和心肌病相关。缺乏关于TDD心脏表现的治疗、管理和结局的数据。本研究的目的是描述TDD相关的心脏危象。回顾性多中心病历审查了因心脏危象入院的TDD患者，定义为代谢危象期间发生室性心动过速（VT）、心肌病或心脏骤停。在14个中心，27名儿童因43例心脏危象（中位年龄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547 ms; IQR 504-600 ms），8例患者（26%）出现I型Brugada模式。心律失常包括VT 21例（78%）、室上性心动过速3例（11%）和心脏传导阻滞1例（4%）。19例患者（70%）发生心肌病，20例（74%）发生心脏骤停。死亡10例（37%），6例与心律失常有关。在5例患者中，尽管使用了抗心律失常药物，但仍发生了心律失常性VT。6例患者在体外膜肺氧合（ECMO）支持后心律失常得到控制，其中5例存活。在10例未使用ECMO而存活的VT患者中，成功的治疗包括静脉镁，异丙肾上腺素和心房起搏（多例）和维拉帕米（1例）。开始进食似乎可减少VT事件。TDD相关的心脏危象与心律失常、心肌病、心脏骤停和死亡的高风险相关。虽然需要进一步的研究，但早期识别和适当的治疗至关重要。急性时，静脉镁、异丙肾上腺素、心房起搏和ECMO作为最后手段似乎是目前最好的治疗选择，早期开始进食可预防VT事件。
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.
登录
查看更多内容
影响因子：
9.8
作者：
Kremer, Laura S.;Distelmaier, Felix;Haack, Tobias B.
通讯作者：
Haack, Tobias B.
DOI：
10.1038/s41436-018-0137-y
发表时间：
2019-03
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
Dines JN;Golden-Grant K;LaCroix A;Muir AM;Cintrón DL;McWalter K;Cho MT;Sun A;Merritt JL;Thies J;Niyazov D;Burton B;Kim K;Fleming L;Westman R;Karachunski P;Dalton J;Basinger A;Ficicioglu C;Helbig I;Pendziwiat M;Muhle H;Helbig KL;Caliebe A;Santer R;Becker K;Suchy S;Douglas G;Millan F;Begtrup A;Monaghan KG;Mefford HC
通讯作者：
Mefford HC
影响因子：
4.2
作者：
Jennions, Elizabeth;Hedberg-Oldfors, Carola;Darin, Niklas
通讯作者：
Darin, Niklas
影响因子：
9.8
作者：
Lalani, Seema R.;Liu, Pengfei;Yang, Yaping
通讯作者：
Yang, Yaping
影响因子：
37.8
作者：
Remme, Carol Ann;Verkerk, Arie O.;Bezzina, Connie R.
通讯作者：
Bezzina, Connie R.