儿童Noonan综合征伴扩张型心肌病并发爆发性心肌炎1例  

A case of childhood Noonan syndrome with dilated cardiomyopathy complicated by fulminant myocarditis

作　　者：饶兰云 张有为 RAO Lanyun;ZHANG Youwei(Department of Pediatrics,Renmin Hospital,Hubei University of Medicine,Shiyan,Hubei 442000,China)

机构地区：[1]湖北医药学院附属人民医院儿童医疗中心,湖北十堰442000

出　　处：《中国优生与遗传杂志》2024年第12期2597-2602,共6页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨儿童Noonan综合征伴扩张型心肌病并发爆发性心肌炎的诊治方法。方法回顾性分析Noonan综合征伴扩张型心肌病并发爆发性心肌炎患儿的临床资料。结果患儿因“腹胀伴哭闹不安3天”入院,查体可见前额高、太阳穴窄、眼距增宽、右侧上睑下垂、人中深、双耳位低、上唇宽厚呈撅嘴样、小下颌等特殊面容。入院第2天,患儿突然出现呼吸困难,伴明显烦躁不安,呼吸频率及心率明显增快,心脏可闻及Ⅱ~Ⅲ/Ⅵ级收缩期杂音,结合相关辅助检查结果,临床诊断为爆发性心肌炎及扩张型心肌病。家系全外显子组测序显示患儿及其母亲均携带RIT1基因的杂合突变c.229G>C(p.Ala77Pro),故Noonan综合征诊断成立。经积极治疗,患儿病情好转并顺利出院。结论RIT1基因突变的Noonan综合征患儿,可合并扩张型心肌病,甚至并发爆发性心肌炎,若不能及时救治,严重可危及生命。对于爆发性心肌炎的治疗,强调早发现、早诊断、早治疗,以生命支持为基础的全面综合治疗为主,必要时使用免疫调节剂及体外膜氧合(ECMO)治疗,甚至考虑心脏移植。Objective To investigate the diagnostic and therapeutic approaches for managing children with Noonan syndrome accompanied by dilated cardiomyopathy and fulminant myocarditis.Methods A retrospective analysis was conducted on the clinical data of a child affected by Noonan syndrome,dilated cardiomyopathy,and fulminant myocarditis.Results The child was admitted due to abdominal distension accompanied by crying for three days.A distinctive facial appearance was revealed upon physical examination,including a high forehead,narrow temples,increased distance between the eyes,ptosis of the right upper eyelid,deep philtrum,low-set ears,wide and thick upper lip with a pouting appearance,and micrognathia.On the second day of admission,respiratory distress suddenly developed,accompanied by significant restlessness,rapid breathing as well as rapid heart rate,and a systolic murmur of gradeⅡ-Ⅲ/Ⅵwas audible over the heart.Fulminant myocarditis and dilated cardiomyopathy were clinically diagnosed based on relevant auxiliary examinations.Whole-exome sequencing of the family revealed that both the child and his mother carried a heterozygous mutation in the RIT1 gene,c.229G>C(p.Ala77Pro),thereby confirming the diagnosis of Noonan syndrome.With the implementation of active treatment,the child’s condition was observed to improve,leading to a successful discharge.Conclusion Children affected by Noonan syndrome caused by RIT1 gene mutations are susceptible to complications such as dilated cardiomyopathy and may also develop fulminant myocarditis.In the absence of immediate treatment,this condition can pose a critical threat to their lives.Emphasis should be placed on early detection,early diagnosis,and early treatment for the management of fulminant myocarditis.The main approach to comprehensive treatment is based on life support,with the use of immunomodulators and ECMO treatment being necessary when appropriate,and heart transplantation should even be considered.

关 键 词：儿童 NOONAN综合征 扩张型心肌病 爆发性心肌炎 

分 类 号：R54[医药卫生—心血管疾病]