Department of Paediatrics, Tohoku University Hospital, Sendai, Japan.
Department of Paediatrics, Tohoku University Hospital, Sendai, Japan
BMJ Case Rep. 2022 Sep 28;15(9):e250342. doi: 10.1136/bcr-2022-250342.
Noonan syndrome (NS) is a congenital disease with characteristic facial features as well as heart disease, short stature and thoracic abnormalities. More than eighty per cent of patients with NS show several cardiac disorders including pulmonary valvular stenosis, hypertrophic cardiomyopathy (HCM) and/or atrial septal defects. HCM is a serious cardiac comorbidity in patients with NS, especially in those who are diagnosed within 6 months of age with congestive heart failure. Arrhythmia with or without HCM in NS is a rare comorbidity with a complicated clinical course and poor prognosis.In this manuscript, we present the case of a male infant with NS with gene mutation, who showed various types of arrhythmias. He developed life-threatening heart failure and uncontrollable arrhythmias. We attempted several antiarrhythmic agents and finally controlled the arrhythmias to establish a normal sinus rhythm with a combination of amiodarone and flecainide.
努南综合征（Noonan syndrome，NS）是一种先天性疾病，具有特征性的面部特征以及心脏病、身材矮小和胸廓异常。超过 80%的 NS 患者表现出多种心脏疾病，包括肺动脉瓣狭窄、肥厚型心肌病（hypertrophic cardiomyopathy，HCM）和/或房间隔缺损。HCM 是 NS 患者严重的心脏合并症，尤其是在那些在 6 个月龄内被诊断为充血性心力衰竭的患者中。NS 患者伴有或不伴有 HCM 的心律失常是一种罕见的合并症，其具有复杂的临床病程和不良预后。在本手稿中，我们介绍了一例携带 基因突变的男性婴儿 NS 患者，他表现出多种类型的心律失常。他发生危及生命的心力衰竭和不可控制的心律失常。我们尝试了几种抗心律失常药物，最终通过胺碘酮和氟卡尼联合使用控制了心律失常，建立了正常窦性节律。
