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01-02-2021 | Marfan Syndrome | Scientific Letter

Neonatal Marfan Syndrome by Inherited Mutation

Authors: Gioia Mastromoro, Valentina Guida, Raffaella Cellitti, Viviana Cardilli, Alessandro De Luca, Antonio Pizzuti, Paolo Versacci

Published in: Indian Journal of Pediatrics | Issue 2/2021

Excerpt

To the Editor: Neonatal Marfan syndrome (nMFS) is a severe form of the disease (MFS #154700) with fast progression and poor prognosis. In almost all nMFS cases, a de novo FBN1 gene mutation was identified in the “neonatal region” involving exons 24–32 [1, 2]. …

Amado M, Calado MA, Ferreira R, Lourenço T. Neonatal Marfan syndrome: a successful early multidisciplinary approach. BMJ Case Rep. 2014;2014:bcr2013202438.CrossRef

Sutherell J, Zarate Y, Tinkle BT, et al. Novel fibrillin 1 mutation in a case of neonatal Marfan syndrome: the increasing importance of early recognition. Congenit Heart Dis. 2007;2:342–6.CrossRef

Stevic I, Kozenko M, LoStracco R, Chan AKC, Chan HHW. Phenotype presentation for a novel mutation affecting a conserved cysteine residue in exon 63 of fibrillin-1 (Cys2633Arg). Biochem Genet. 2014;52:225–32.CrossRef

Savolainen A, Kupari M, Toivonen L, Kaitila I, Viitasalo M. Abnormal ambulatory electrocardiographic findings in patients with the Marfan syndrome. J Intern Med. 1997;241:221–6.CrossRef

Cook JR, Carta L, Bénard L, et al. Abnormal muscle mechanosignaling triggers cardiomyopathy in mice with Marfan syndrome. J Clin Invest. 2014;124:1329–39.PubMedPubMedCentral

Title: Neonatal Marfan Syndrome by Inherited Mutation
Authors: Gioia Mastromoro
Valentina Guida
Raffaella Cellitti
Viviana Cardilli
Alessandro De Luca
Antonio Pizzuti
Paolo Versacci
Publication date: 01-02-2021
Publisher: Springer India
Keyword: Marfan Syndrome
Published in: Indian Journal of Pediatrics / Issue 2/2021
Print ISSN: 0019-5456
Electronic ISSN: 0973-7693
DOI: https://doi.org/10.1007/s12098-020-03411-y

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Neonatal Marfan Syndrome by Inherited Mutation

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