A case of neonatal MN hemolytic disease accompanied by hypertrophic cardiomyopathy related to SCN5A and ANK2 gene heterozygous mutations
10.3760/cma.j.cn101070-20240812-00511
- VernacularTitle:新生儿MN溶血病并 SCN5A及 ANK2基因杂合突变肥厚型心肌病1例
- Author:
Lin ZHU
1
;
Guiying LIU
1
;
Ying SU
1
;
Xi YANG
1
;
Yi LI
1
Author Information
1. 首都医科大学附属北京安贞医院儿科，北京 100029
- Publication Type:Journal Article
- Keywords:
Infant, newborn;
Cardiomyopathy, hypertrophic;
SCN5A gene;
ANK2 gene;
Blood group incompatibility;
MNSS blood-group system
- From:
Chinese Journal of Applied Clinical Pediatrics
2025;40(5):378-382
- CountryChina
- Language:Chinese
-
Abstract:
The clinical data of a case with neonatal hypertrophic cardiomyopathy (HCM) admitted to the Department of Pediatrics, Beijing Anzhen Hospital, Capital Medical University in July 2020 was retrospectively analyzed.The child developed hyperbilirubinemia and severe anemia within 1 hour after birth.The direct Coombs test was negative.The diagnosis of MN hemolytic disease was confirmed by positive results of both the indirect Coombs test and the maternal indirect Coombs test.Echocardiography and cardiac magnetic resonance imaging confirmed the presence of HCM, and genetic testing showed SCN5A and ANK2 gene heterozygous mutations.After treatment with blue light irradiation, intravenous immunoglobulin, red blood cell washing, Dexamethasone and sodium phosphocreatine, the condition improved and the patient was discharged.During the follow-up period, delayed hemolysis occurred 1.5 months after birth, and thus the patient received re-infusion of immunoglobulin and washing of red blood cells.A scalp hemangioma and a break in milk intake were detected 2 and 7 months after birth, respectively.Treatment with Propranolol, Captopril, Hydrochlorothiazide, and Spironolactone improved the condition.The patient was followed up until August 2024, with clinical symptoms significantly improved, no occurrence of anemia, and no further thickening or progression of the myocardium.
