Latest advances in the diagnosis and treatment of Marfan syndrome.
10.7499/j.issn.1008-8830.2203099
- Author:
Shu-Ting YANG
1
;
Fang LUO
1
Author Information
1. Department of Pediatrics, First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 311100, China.
- Publication Type:Review
- Keywords:
Child;
FBN1 gene;
Gene mutation;
Marfan syndrome;
Neonatal Marfan syndrome
- MeSH:
Fibrillin-1/genetics*;
Humans;
Infant, Newborn;
Marfan Syndrome/therapy*;
Mutation
- From:
Chinese Journal of Contemporary Pediatrics
2022;24(7):826-831
- CountryChina
- Language:Chinese
-
Abstract:
Marfan syndrome (MFS) is a multisystem connective tissue disease with autosomal dominant inheritance. It is mainly caused by FBN1 gene mutation and often has different clinical manifestations. Neonatal MFS is especially rare with severe conditions and a poor prognosis. At present, there is still no radical treatment method for MFS, but early identification, early diagnosis, and early treatment can effectively prolong the life span of patients. This article reviews the latest advances in the diagnosis and treatment of MFS.
