Case report of congenital disorder of glycosylation type Ia combined with dilated cardiomyopathy
10.3760/cma.j.cn101070-20200410-00615
- VernacularTitle:先天性糖基化障碍Ia型并扩张型心肌病1例
- Author:
Xuan CHEN
1
;
Jinlong CHEN
;
Xueying CHENG
;
Jie YIN
;
Yuming QIN
;
Shiwei YANG
Author Information
1. 南京医科大学附属儿童医院心血管内科 210019
- Keywords:
Congenital disorder of glycosylation;
PMM2 gene;
Cardiac phenotype;
Dilated cardiomyopathy
- From:
Chinese Journal of Applied Clinical Pediatrics
2021;36(18):1426-1428
- CountryChina
- Language:Chinese
-
Abstract:
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.
