A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: a case report and review of the mutation spectrum

Neonatal Marfan syndrome (nMFS) is a rare condition with a poor prognosis. It is genotypically and phenotypically distinct from the typical Marfan syndrome and carries a poorer prognosis. This case report describes the progression of a 14-month-old girl diagnosed with nMFS at 5 months of age. Her diagnosis followed the identification of a fibrillin-1 mutation (FBN1gene, exon 26, chromosome 15), which is a common locus of nMFS. This patient developed severe cardiac complications resulting in congestive cardiac failure in early life and required major cardiac surgery. Since surgical intervention, our patient is still reliant on a degree of ventilator support, but the patient has gained weight and echocardiography has demonstrated improved left ventricular function and improved tricuspid and mitral valve regurgitation. Therefore, we argue the importance of a cautious multidisciplinary approach to early surgical intervention in cases of nMFS.

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Neonatal Marfan syndrome with missense variant of c.3706T>C undergoing bilateral atrioventricular valve replacement

Cardiology in the Young ◽

10.1017/s1047951121003905 ◽

2021 ◽

pp. 1-4

Author(s):

Junpei Kawamura ◽

Kentaro Ueno ◽

Yoshifumi Kawano

Keyword(s):

Marfan Syndrome ◽

Valve Replacement ◽

Tricuspid Valve ◽

Rare Condition ◽

Missense Variant ◽

Tricuspid Valve Replacement ◽

Genetic Syndrome ◽

Fibrillin 1 ◽

Valve Insufficiency ◽

Neonatal Marfan Syndrome

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 report the first infant neonatal Marfan syndrome case with a missense variant of c.3706T>C in the fibrillin-1 gene that was successfully managed by mitral and tricuspid valve replacement. Early multiple-valve replacement may sometimes be required during infant age in this genetic syndrome.

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Novel exon skipping mutation in the fibrillin-1 gene: Two ‘hot spots’ for the neonatal Marfan syndrome

Clinical Genetics ◽

10.1034/j.1399-0004.1999.550207.x ◽

1999 ◽

Vol 55 (2) ◽

pp. 110-117 ◽

Cited By ~ 62

Author(s):

Patrick Booms ◽

Jason Cisler ◽

Kurt R. Mathews ◽

Maurice Godfrey ◽

Frank Tiecke ◽

...

Keyword(s):

Marfan Syndrome ◽

Hot Spots ◽

Exon Skipping ◽

Fibrillin 1 ◽

Neonatal Marfan Syndrome ◽

Novel Exon

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Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome.

Journal of Medical Genetics ◽

10.1136/jmg.33.9.760 ◽

1996 ◽

Vol 33 (9) ◽

pp. 760-763 ◽

Cited By ~ 19

Author(s):

M Wang ◽

P Kishnani ◽

M Decker-Phillips ◽

S G Kahler ◽

Y T Chen ◽

...

Keyword(s):

Marfan Syndrome ◽

Double Mutant ◽

Fibrillin 1 ◽

Neonatal Marfan Syndrome

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Marfan Syndrome: A Case Report

Case Reports in Dentistry ◽

10.1155/2012/595343 ◽

2012 ◽

Vol 2012 ◽

pp. 1-4

Author(s):

Rajendran Ganesh ◽

Rajendran Vijayakumar ◽

Haridoss Selvakumar

Keyword(s):

Stainless Steel ◽

Case Report ◽

Connective Tissue ◽

Blood Vessel ◽

Marfan Syndrome ◽

Autosomal Dominant ◽

The Body ◽

Tissue Protein ◽

Fibrillin 1 ◽

Systemic Disorder

Marfan syndrome is an autosomal dominant systemic disorder of the connective tissue. Children affected by the Marfan syndrome carry a mutation in one of their two copies of the gene that encodes the connective tissue protein fibrillin-1. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body. A case report of Marfan syndrome has been reported with oral features. The dental problems of the child were treated under general anesthesia and a one-month review showed intact stainless steel crowns' restorations and no signs of secondary caries.

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