ARV1基因变异引起心律失常1例  

Arrhythmia caused by ARV1 gene variation:A case report

作　　者：李翠云 徐颖 姚如恩[1] 李崴 蔡添娥 陆春娇 于英 LI Cuiyun;XU Ying;YAO Ruen;LI Wei;CAI Tian’e;LU Chunjiao;YU Ying(Affiliated to Shanghai Jiao Tong University School of Medicine Shanghai Children’s Medical Center,Hainan Branch,Medical Genetics&Antenatal Diagnosis Center,Sanya,Hainan 572000,China)

机构地区：[1]上海交通大学医学院附属上海儿童医学中心海南医院医学遗传与产前诊断中心,海南三亚572000

出　　处：《中国优生与遗传杂志》2024年第8期1657-1661,共5页Chinese Journal of Birth Health & Heredity

基　　金：海南省卫生健康行业科研项目(22A200327);金椰种子基金项目(JYZZ-YJ-202113)。

摘　　要：目的探讨ARV1基因变异引起的心肌疾病相关的临床特点。方法对上海交通大学医学院附属上海儿童医学中心海南医院收治的1例心律失常患儿的临床资料进行回顾性分析,患儿主要表现为房间隔缺损,心率慢。患儿行全外显子组测序(WES)分析。结果本例患儿为早产儿,女,转入新生儿科,心率105次/分,心音无力,B型钠尿肽前体测定为3996.0 pg/mL,腹部彩超提示肠积气,房间隔缺损(Ⅱ),动脉导管未闭卵圆孔未闭。临床全外显子组测序分析提示ARV1基因存在纯合致病变异:c.693_694insTT(p.Lys232fs)(NM_022786.3)点纯合子突变,变异位点分别遗传自父母。国内仅1例ARV1基因变异患儿报道,国外文献报道的ARV1基因变异患儿23例,包括本例患儿共25例。23例患儿均有早发性癫痫性脑病38型患者表型,6例患儿有扩张型心肌病患者表型,10例患者在幼儿期或学龄前期死亡。结论ARV1基因变异可能在心肌生理学中发挥重要作用,但显然需要更多的临床和分子分析来更详细地探索这一结论。对于不明原因的产前或婴幼儿早发性心肌相关疾病应早期行基因检测,以便更好地指导治疗和判断预后以及对其家庭进行产前指导。Objective To investigate the clinical features of myocardial diseases caused by ARV1 gene mutation.Methods The clinical data of a child with arrhythmia admitted to the department of Neonatology,AffIliated to Shanghai Jiao Tong University School of Medicine Shanghai Children’s Medical Center,Hainan Branch were analyzed retrospectively.The patient primarily presented with atrial septal defect,slow heart rate.Whole exome sequencing(WES)was performed on the child.Results The patient was a premature infant,a female,who was transferred to the Department of Neonatology.Her heart rate was 105 beats per minute,and her heart sounds were weak.The level of pro-b-type natriuretic peptide was 3996.0 pg/mL,patent ductus arteriosus patent foramen ovale.Clinical whole exome sequencing analysis suggested a homozygous pathogenic variant in the ARV1 gene:c.693(p.Lys232fs)(NM)point homozygous mutation,with the variant site inherited from the parents,respectively.Only one case of ARV1 gene mutation was reported in China,and 23 cases of ARV1 gene mutation were reported in foreign literature,including 25 cases of this case.All 23 patients had the DEE38 phenotype,6 had the DCM phenotype,and 10 patients died in early childhood or preschool.Conclusion ARV1 gene variants may play an important role in cardiac physiology,but more clinical and molecular analyses are clearly needed to explore this conclusion in more detail.Early genetic testing should be performed for unexplained prenatal or early-onset myocardial diseases in infants and young children in order to better guide treatment and judge prognosis as well as prenatal guidance for their families.

关 键 词：ARV1基因 心律失常 癫痫性脑病 基因检测 

分 类 号：R725.4[医药卫生—儿科]