Research advances in the clinical phenotypic variation of Marfan syndrome / 中华胸心血管外科杂志

ABSTRACT

Marfan syndrome(MFS) is an autosomal dominant connective tissue disease caused by genetic mutation, and its pathogenesis has not been fully clarified. Due to the complex and unpredictable clinical phenotype of MFS, the diagnosis of preclinical or atypical patients becomes difficult, and it is easy to misdiagnose, which delaying the diagnosis and treatment. Therefore, it is of great significance to clarify the mechanism of MFS phenotypic variation for the diagnosis, phenotypic prediction and prognosis evaluation of MFS patients. Here, we review the mechanism and research progress of the clinical phenotypic variation of MFS, with the aim of guiding clinical diagnosis and treatment.