Neonatal Marfan syndrome with missense variant of c.3706T>C undergoing bilateral atrioventricular valve replacement.
Sign Up to like & getrecommendations! Published in 2021 at "Cardiology in the young"
DOI: 10.1017/s1047951121003905
Abstract: Neonatal Marfan syndrome is a rare condition with poor prognosis because of severe mitral and/or tricuspid valve insufficiency. Mitral valve replacement is sometimes required in early infancy, while tricuspid valve replacement is rarely done. We… read more here.
Keywords: valve replacement; replacement; neonatal marfan; marfan syndrome ... See more keywords
A novel large in-frame FBN1 deletion causes neonatal Marfan syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Cold Spring Harbor Molecular Case Studies"
DOI: 10.1101/mcs.a006213
Abstract: Neonatal Marfan syndrome (nMFS) is a rare and severe form of Marfan syndrome (MFS) with a poor prognosis, that presents with a highly variable phenotype, particularly regarding skeletal, ocular, and cardiovascular manifestations. Mutations in the… read more here.
Keywords: deletion; neonatal marfan; frame; novel large ... See more keywords
Successful Mitral Valve Replacement in an Infant with Neonatal Marfan Syndrome due to a Novel Missense Mutation of the FBN1 Gene.
Sign Up to like & getrecommendations! Published in 2022 at "International heart journal"
DOI: 10.1536/ihj.21-821
Abstract: 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… read more here.
Keywords: neonatal marfan; valve replacement; mitral valve; marfan syndrome ... See more keywords
Neonatal Marfan syndrome diagnosed prenatally.
Sign Up to like & getrecommendations! Published in 2017 at "Ginekologia polska"
DOI: 10.5603/gp.a2017.0009
Abstract: Neonatal Marfan syndrome (nMFS) is far less common than the classic type and is considered to be a separate clinical entity, with its unique symptoms, specific mutations in the FBN1 gene, and extremely poor prognosis.… read more here.
Keywords: diagnosed prenatally; marfan syndrome; fbn1 gene; neonatal marfan ... See more keywords