先天性糖基化障碍Ia型并扩张型心肌病1例

Case report of congenital disorder of glycosylation type Ia combined with dilated cardiomyopathy

对南京医科大学附属儿童医院心血管内科收治的1例先天性糖基化障碍Ia型(CDG-Ia)并扩张型心肌病患儿的临床资料及随访情况进行回顾性分析。患儿,5岁女童,因反复气促2个月于2016年12月入院。临床表现为气促反复发作,生长发育落后、营养不良、双眼内斜、多次低血糖发作、肝脾大、肌张力低下等多系统损害表现。心脏超声提示:左心室明显扩大,收缩功能下降,呈扩张型心肌病表现。基因检测发现患儿存在PMM2基因复合杂合突变,确诊为CDG-Ia。经西地兰、多巴胺、多巴酚丁胺、呋塞米等改善心功能及营养心肌、维持血糖、保护肝脏等对症支持治疗后病情好转,出院后给予地高辛、美托洛尔、卡托普利及利尿剂口服,同时控制低血糖,每3~6个月门诊随访,随访2年余后心功能及心脏扩大逐渐好转至恢复正常。新型冠状病毒肺炎疫情期间自行停药2个月,后复查再次出现心功能下降和左心室增大,再次恢复药物治疗,密切随访中。本例患儿提示CDG-Ia有可能存在扩张型心肌病,而经对症支持治疗,心脏表型有改善的可能。

Clinical data and follow-up of a case of congenital disorder of glycosylation type Ia(CDG-Ia)combined with dilated cardiomyopathy admitted to the Department of Cardiology,Children′s Hospital of Nanjing Medical University were analyzed retrospectively.The 5-year-old female patient was admitted in December 2016 due to recu-rrent shortness of breath for 2 months.Clinical symptoms and signs included repeated attacks of shortness of breath,physical retardation,malnutrition,binocular esotropia,multiple episodes of hypoglycemia,hepatosplenomegaly,hypotonia and other multi-system damages.Cardiac echocardiography suggested the feature of dilated cardiomyopathy,including the significant enlargement of the left ventricle,and decreased systolic function.Genetic testing revealed a compound heterozygous mutation in the PMM2 gene,and as a result,the patient was diagnosed as CDG-Ia.The patient′s condition improved after symptomatic treatments such as Cedilanid,Dopamine,Dobutamine,Furosemide,as well as support treatments like myocardium nutrition,blood sugar maintenance,liver protection,etc.After discharge,the patient was given oral Digoxin,Betaloc,Captopril and diuretics,and hypoglycemia-controlling agents.The patient was followed up every 3-6 months.After more than 2 years of follow-up,the heart function and heart enlargement gradually returned to normal.During the Corona Virus Disease 2019 outbreak,self-withdrawal continued for 2 months.Re-examinations showed decreased cardiac function and enlarged left ventricle again.Medications were resumed again,and the patient was followed up closely.This case report suggested that CDG-Ia may be associated with dilated cardiomyopathy,and the cardiac phenotype may be improved by symptomatic supportive treatment.