Latest advances in the diagnosis and treatment of Marfan syndrome

YANG Shu-Ting; LUO Fang

doi:10.7499/j.issn.1008-8830.2203099

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Chinese Journal of Contemporary Pediatrics ›› 2022, Vol. 24 ›› Issue (7) : 826-831. DOI: 10.7499/j.issn.1008-8830.2203099

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Latest advances in the diagnosis and treatment of Marfan syndrome

YANG Shu-Ting, LUO Fang

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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.

Key words

Marfan syndrome / Neonatal Marfan syndrome / Gene mutation / FBN1 gene / Child

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YANG Shu-Ting, LUO Fang. Latest advances in the diagnosis and treatment of Marfan syndrome[J]. Chinese Journal of Contemporary Pediatrics. 2022, 24(7): 826-831 https://doi.org/10.7499/j.issn.1008-8830.2203099

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