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Article

Successful Mitral Valve Replacement in an Infant with Neonatal Marfan Syndrome due to a Novel Missense Mutation of the FBN1 Gene.

International heart journal - 30 Jul 2022

Motonaga Takahiro, Ohnishi Yuji, Okada Seigo, Suzuki Yasuo, Furuta Takashi, Kawamura Mai, Okayama Naoko, Suehiro Yutaka, Hasegawa Shunji

Abstract excerpt

Marfan syndrome is an autosomal dominant genetic disorder of the fibrous connective tissue caused by pathogenic mutations in the fibrillin-1 gene. Neonatal Marfan syndrome is a rare type of Marfan syndrome that is genotypically and phenotypically different from classical Marfan syndrome and has a poor prognosis. Most patients with neonatal Marfan syndrome die during infancy due to severe and rapidly progressive...

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Identifiers

PMID: 35831148
DOI: 10.1536/ihj.21-821

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