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首页> 外文期刊>Circulation. Genomic and precision medicine. >International Triadin Knockout Syndrome Registry The Clinical Phenotype and Treatment Outcomes of Patients With Triadin Knockout Syndrome
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International Triadin Knockout Syndrome Registry The Clinical Phenotype and Treatment Outcomes of Patients With Triadin Knockout Syndrome

机译：三合国际淘汰赛综合症注册表的临床表型和治疗结果三合击倒综合症患者

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BACKGROUND: Triadin knockout syndrome (TKOS) is a rare, inherited arrhythmia syndrome caused by recessive null mutations in TRDN-encoded cardiac triadin. Based previously on 5 triadin null patients, TKOS has been characterized by extensive T-wave inversions, transient QT prolongation, and severe disease expression of exercise-induced cardiac arrest in early childhood refractory to conventional therapy. METHODS: We have established the International Triadin Knockout Syndrome Registry to include patients who have genetically proven homozygous/compound heterozygous TRDN null mutations. Clinical/ genetic data were collected using an online survey generated through REDCap. RESULTS: Currently, the International Triadin Knockout Syndrome Registry includes 21 patients (11 males, average age of 18 years) from 16 families. Twenty patients (95%) presented with either cardiac arrest (15, 71%) or syncope (5, 24%) at an average age of 3 years. Mild skeletal myopathy/ proximal muscle weakness was noted in 6 (29%) patients. Of the 19 surviving patients, 16 (84%) exhibit T-wave inversions, and 10 (53%) have transient QT prolongation > 480 ms. Eight of 9 patients had ventricular ectopy on exercise stress testing. Thirteen (68%) patients have received implantable defibrillators. Despite various treatment strategies, 14 (74%) patients have had recurrent breakthrough cardiac events. CONCLUSION: TKOS is a potentially lethal disease characterized by T-wave inversions in the precordial leads, transient QT prolongation in some, and recurrent ventricular arrhythmias at a young age despite aggressive treatment. Patients displaying this phenotype should undergo TRDN genetic testing as TKOS may be a cause for otherwise unexplained cardiac arrest in young children. As gene therapy advances, enrollment into the International Triadin Knockout Syndrome Registry is encouraged to better understand TKOS and to ready a well-characterized cohort for future TRDN gene therapy trials.
机译：背景:三合淘汰赛综合症(TKOS)罕见的遗传性心律失常综合征所致隐性零TRDN-encoded心脏的突变三合。病人,TKOS的特征广泛的让反演,短暂的QT延长,严重疾病的表达运动性心脏骤停在早期对传统药物难治的童年。方法:我们建立了国际三合淘汰赛综合症包括注册表病人基因被证明纯合子/复合杂合的TRDN null突变。使用一个在线调查生成的搬运工。结果:目前,国际三合淘汰赛综合症注册包括21个病人(11个男性,平均年龄18岁)从16家庭。心脏骤停(15 71%)或晕厥(524%)平均年龄为3年。肌病/近端肌肉无力在6(29%)的病人。(84%)展览让倒置,10 (53%)有短暂的QT延长> 480 ms。9患者心室异位运动压力测试。收到植入式心脏除颤器。不同的治疗策略,14例(74%)患者有心脏病的复发性突破。结论:TKOS是一种潜在的致命疾病让反演的特点心前区的领导,瞬态QT延长一些,和复发性室性心律失常年轻的时候尽管积极的治疗。显示该表型应该接受TRDN基因检测是TKOS可能是一个原因否则无法解释在年轻的心脏骤停的孩子。到三合国际淘汰赛综合症注册表是鼓励更好地理解TKOS并准备一个特征明显未来TRDN基因治疗试验。

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