Prenatal diagnosis of neonatal Marfan syndrome

Gavilan, C.; Herraı̀z, Ignacio; Granados, Miguel Ángel Núñez; Moral, Mónica; Gómez-Montes, Enery; Galindo, Alberto

doi:10.1002/pd.2748

Cited by 12 publications

(19 citation statements)

References 26 publications

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“…However, several cases of neonatal Marfan syndromes with favorable outcome, up to 9 years after cardiac surgical management, have nonetheless been reported, but their initial presentations were less severe than our case [Rozendaal et al, 2011;Brito-Filho et al, 2013]. Furthermore, some prenatal findings may have been described in the literature, particularly cardiomegaly and aortic and pulmonary trunks enlargement [Gavilán et al, 2011]. Cardiac fetal echocardiography is still not recommended in international guidelines for pregnant women with Marfan syndrome [European Society of Gynecology et al, 2011].…”

Section: Discussionmentioning

confidence: 89%

Neonatal Marfan Syndrome: Report of a Case with an Inherited Splicing Mutation outside the Neonatal Domain

et al. 2015

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We report a child and her mother affected by Marfan syndrome. The child presented with a phenotype of neonatal Marfan syndrome, revealed by acute and refractory heart failure, finally leading to death within the first 4 months of life. Her mother had a common clinical presentation. Genetic analysis revealed an inherited FBN1 mutation. This intronic mutation (c.6163+3_6163+6del), undescribed to date, leads to exon 49 skipping, corresponding to in-frame deletion of 42 amino acids (p.Ile2014_Asp2055del). FBN1 next-generation sequencing did not show any argument for mosaicism. Association in the same family of severe neonatal and classical Marfan syndrome illustrates the intrafamilial phenotype variability.

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Section: Discussionmentioning

confidence: 89%

Neonatal Marfan Syndrome: Report of a Case with an Inherited Splicing Mutation outside the Neonatal Domain

et al. 2015

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“…Marfan syndrome, an autosomal dominant connective tissue disorder caused by mutations in the FBN1 gene (chromosome 15q21.1), 1 , 2 occurs in approximately 1 to 3 per 10,000 live births 1 – 3 . With more than 1700 different related mutations, DNA analysis can detect more than 95% of affected individuals.…”

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confidence: 99%

“…With more than 1700 different related mutations, DNA analysis can detect more than 95% of affected individuals. Although most cases develop phenotypic abnormalities years after birth, neonatal Marfan syndrome represents a scarce but severe form of the disease, 1 , 2 , 4 with a guarded prognosis largely related to cardiovascular disorders 5 …”

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confidence: 99%

“…The fetal cardiovascular manifestations of neonatal Marfan syndrome have been previously described in only 9 cases 1 – 4 , 6 – 9 . The fetal cardiac findings in all cases were reviewed.…”

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confidence: 99%

“…As with this case, neonatal Marfan syndrome carries a poor prognosis in the presence of intractable heart failure. Affected infants generally die within the first 2 years of life, with severe mitral regurgitation, cardiomegaly, and heart failure 1 , 2 , 4 , 9 . Among the 10 published fetal cases of Marfan syndrome, only 1 survived the neonatal period, with mitral valve repair at 10.5 months of age 9…”

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confidence: 99%

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Fetal Cardiac Manifestations of Marfan Syndrome

Anuwutnavin

Lee

Silverman

et al. 2014

J of Ultrasound Medicine

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Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome

Šípek

Grodecká

Baxová

et al. 2014

American J of Med Genetics Pt A

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Marfan syndrome (MFS) is an autosomal dominant disorder caused by mutations in the fibrillin 1 gene (FBN1). Neonatal form of MFS is rare and is associated with severe phenotype and a poor prognosis. We report on a newborn girl with neonatal MFS who displayed cyanosis and dyspnea on the first day of life. The main clinical features included mitral and tricuspid valve insufficiency, aortic root dilatation, arachnodactyly, and loose skin. Despite the presence of severe and inoperable heart anomalies, the girl was quite stable on symptomatic treatment and lived up to the 7th month of age when she died due to cardiorespiratory failure. Molecular-genetic studies revealed a novel intronic c.4211-32_-13del mutation in the FBN1 gene. Subsequent in vitro splicing analysis showed this mutation led to exon 35 skipping, presumably resulting in a deletion of 42 amino acids (p.Leu1405_Asp1446del). Interestingly, this mutation is localized outside the region of exons 24-32, whose mutation is responsible for the substantial majority of cases of neonatal MFS. Although the family history of MFS was negative, the subsequent molecular genetic examination documented a mosaicism of the same mutation in the maternal blood cells (10-25% of genomic DNA) and the detailed clinical examination showed unilateral lens ectopy.

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Prenatal diagnosis of neonatal Marfan syndrome

Cited by 12 publications

References 26 publications

Neonatal Marfan Syndrome: Report of a Case with an Inherited Splicing Mutation outside the Neonatal Domain

Neonatal Marfan Syndrome: Report of a Case with an Inherited Splicing Mutation outside the Neonatal Domain

Fetal Cardiac Manifestations of Marfan Syndrome

Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome

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