Clinical characteristics and cardiac magnetic resonance features of neonatal hypertrophic cardiomyopathy: a study of 6 cases / 中国新生儿科杂志

ABSTRACT

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 11 227 deliveries and 11 397 live births.52 of the parturient women were diagnosed as HCM before or during pregnancy (0.46％,52/11 227).54 neonates were delivered from HCM mothers.Among them,5 were diagnosed as HCM (5/11 397,0.04％).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.