Dai Yi, Yin Rong, Yang Lin, Li Zhi-Hua
Department of Neonatology, Children's Hospital of Fudan University, Key Laboratory of Neonatal Disease, National Health Commission, Shanghai, China.
Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University, Shanghai, China.
Transl Pediatr. 2021 Oct;10(10):2432-2438. doi: 10.21037/tp-21-233.
Neonatal arrhythmia is a common complication that might be life-threatening or serious, but the genetic causes are unclear in most cases. The aim of this study is to investigate the genetic causes of neonatal arrhythmia in a NICU in China.
Newborns who were diagnosed with arrhythmia during the neonatal period were enrolled from Children's Hospital of Fudan University between January 1st 2016, and December 31st, 2019. A neonatal gene panel was performed for each infant.
In total, 98 neonatal infants with arrhythmia were enrolled. Fourteen genes and a copy number change were identified and classified as pathogenic/likely pathogenic in 22 patients (22.4%), including 4 genes related to syndrome, 4 related to conduction, 2 related to metabolism, 2 related to structure, 2 related to respiration and immunity, respectively, and trisomy 21. Altogether, 6 genes (6/14, 42.9%) caused original heart structure or conduction abnormalities, leading to arrhythmia. Infants with ventricular tachycardia or fibrillation, atrioventricular block and long-QT syndrome all had positive gene results. The gene positive rate among arrhythmic infants with congenital heart disease or severe heart failure was higher than that of infants without congenital heart disease or severe heart failure.
The genetic disorders associated with neonatal arrhythmia could be syndrome-, conduction-, metabolism-, and structure-related. Infants with non-benign arrhythmia, especially ventricular tachycardia or fibrillation, long-QT syndrome, or high-grade atrioventricular block, have a higher rate of genetic abnormalities and should undergo genetic sequencing. Neonates with hereditary arrhythmias may have a higher risk of congenital heart disease or heart failure.
新生儿心律失常是一种常见的并发症，可能危及生命或较为严重，但在大多数情况下其遗传病因尚不清楚。本研究旨在调查中国一家新生儿重症监护病房（NICU）中新生儿心律失常的遗传病因。
选取2016年1月1日至2019年12月31日期间在复旦大学附属儿科医院被诊断为心律失常的新生儿。对每个婴儿进行新生儿基因检测。
共纳入98例患有心律失常的新生儿。鉴定出14个基因和一个拷贝数变化，其中22例患者（22.4%）被分类为致病/可能致病，包括4个与综合征相关的基因、4个与传导相关的基因、2个与代谢相关的基因、2个与结构相关的基因、2个与呼吸和免疫相关的基因，以及21三体。共有6个基因（6/14，42.9%）导致原始心脏结构或传导异常，进而引发心律失常。患有室性心动过速或颤动、房室传导阻滞和长QT综合征的婴儿基因检测结果均为阳性。患有先天性心脏病或严重心力衰竭的心律失常婴儿的基因阳性率高于无先天性心脏病或严重心力衰竭的婴儿。
与新生儿心律失常相关的遗传疾病可能与综合征、传导、代谢和结构有关。患有非良性心律失常的婴儿，尤其是室性心动过速或颤动、长QT综合征或高度房室传导阻滞的婴儿，遗传异常率较高，应进行基因测序。患有遗传性心律失常的新生儿患先天性心脏病或心力衰竭的风险可能更高。
