新生儿肥厚型心肌病六例临床特点及磁共振特征

Clinical characteristics and cardiac magnetic resonance features of neonatal hypertrophic cardiomyopathy:a study of 6 cases

目的探讨新生儿肥厚型心肌病(hypertrophic cardiomyopathy,HCM)的临床特点、心脏磁共振(cardiac magnetic resonance,CMR)特征及基因型.方法回顾性分析2015年1月至2018年12月首都医科大学附属北京安贞医院儿科诊断HCM的新生儿临床资料,对其临床表现、影像学特征及基因型进行分析.结果研究期间本院共收治产妇11227名,孕前/孕期合并HCM52例(0.46%,52/11227),共出生活产新生儿11397名,确诊HCM新生儿5例(0.04%,5/11397),外院转入1例(生后15 d),最终纳入6例.其中足月儿和早产儿各3例,胎龄(36.6±1.2)周.临床表现为纳奶间歇4例,其中伴面色苍白、哭闹时紫绀、大汗各1例.CMR均可见室间隔增厚(6.80±1.78)mm,射血分数(60.0±2.8)%,伴右室心肌肥厚1例、左室流出道梗阻合并室间隔延迟强化1例.6例均长期口服β受体阻滞剂(美托洛尔),出院后随访6个月至2岁,其中4例心肌增厚无进展;2例心肌有进行性增厚,其中1例诊断为终末期HCM.6例均有基因突变,其中MYBPC3基因突变3例,MYH7基因突变1例,MYH7和TMPO基因突变1例,RYR2基因突变1例.结论HCM新生儿CMR主要以室间隔增厚为主,也可出现延迟强化表现,以MYBPC3和MYH7基因突变最常见,临床症状以纳奶间歇为主.建议有缺氧症状或CMR存在流出道梗阻的HCM新生儿予以β受体阻滞剂治疗.

Objective To study the clinical characteristics,cardiac magnetic resonance(CMR)features,and genetype of hypertrophic cardiomyopathy(HCM)in neonates.Method HCM newborns diagnosed at pediatric department of Anzhen Hospital Affiliated to Capital Medical University from January 2015 to December 2018 were retrospectively collected.The clinical manifestations,imaging features and genetype were analyzed.Result During the study period,there were 11227 deliveries and 11397 live births.52 of the parturient women were diagnosed as HCM before or during pregnancy(0.46%,52/11227).54 neonates were delivered from HCM mothers.Among them,5 were diagnosed as HCM(5/11397,0.04%).In addition,there was another infant patient who was admitted from another hospital.In total,6 HCM infants were included in this study,with 4 males and 2 females.The average gestational age of the infants was(36.6±1.2)weeks,with 3 preterm infants,and the others were full-term infants.The median age of diagnosis was 1 day.The clinical manifestation was that 4 patients needed rest in the course of suckling,3 of them also had accompanied symptoms,with pale face,cyanosis while crying and sweating in each case.CMR showed that the ventricular septum was(6.80±1.78)mm,ejection fraction was(60.0±2.8)%.All six patients showed septal thickening on CMR,including a case with right ventricular myocardial hypertrophy,another with left ventricular outflow tract obstruction and late gadolinium-enhanced.The infants were all treated with metoprolol.They were followed up until 6 months to 2 years old.Among them,4 cases had no progress in myocardial thickening.Two cases had progressive myocardial thickening,one of them was diagnosed as end-stage HCM at 2 year-old.Three MYBPC3 mutations,one MYH7 gene mutation,one MYH7 gene mutation combined with TMPO gene mutation and one RYR2 gene mutation were detected.Conclusion The neonatal HCM is characterized by thickening of ventricular septum,outflow tract obstruction and delayed enhancement of CMR.The most common HCM mutations were MYBPC3 and MYH7,the most common clinical symptoms were breast feeding interruption,followed by cyanosis,pale and sweating.It is suggested that beta-blockers should be recommended for neonates with hypoxic episodes or outflow tract obstruction.