Paternal fibrillin-1 mutation transmitted to an affected son with neonatal marfan syndrome: the importance of early recognition

AbstractWe describe a case of neonatal Marfan syndrome diagnosed because of a family history, dysmorphic features, and cardiac abnormality. The echocardiogram showed aortic root dilatation. Molecular genetic studies showed a mutation in exon 31 of the FBN1 gene in the infant and father. The infant was treated with losartan, which significantly slowed the rate of enlargement of the aorta.

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Novel Fibrillin 1 Mutation in a Case of Neonatal Marfan Syndrome: The Increasing Importance of Early Recognition

Congenital Heart Disease ◽

10.1111/j.1747-0803.2007.00123.x ◽

2007 ◽

Vol 2 (5) ◽

pp. 342-346 ◽

Cited By ~ 9

Author(s):

Jamie Sutherell ◽

Yuri Zarate ◽

Bradley T. Tinkle ◽

Larry W. Markham ◽

Linda H. Cripe ◽

...

Keyword(s):

Marfan Syndrome ◽

Early Recognition ◽

Fibrillin 1 ◽

Neonatal Marfan Syndrome

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A Case of Neonatal Marfan Syndrome: A Management Conundrum and the Role of a Multidisciplinary Team

Case Reports in Pediatrics ◽

10.1155/2017/8952428 ◽

2017 ◽

Vol 2017 ◽

pp. 1-6 ◽

Cited By ~ 2

Author(s):

Elliott J. Carande ◽

Samuel J. Bilton ◽

Satish Adwani

Keyword(s):

Marfan Syndrome ◽

Surgical Intervention ◽

Rare Condition ◽

Mitral Valve Regurgitation ◽

Left Ventricular ◽

Cardiac Complications ◽

Chromosome 15 ◽

Fibrillin 1 ◽

Neonatal Marfan Syndrome

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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Abstract 11621: Fibrillin-1 Gene Mutations in Left Ventricular Non-Compaction Cardiomyopathy

Circulation ◽

10.1161/circ.130.suppl_2.11621 ◽

2014 ◽

Vol 130 (suppl_2) ◽

Author(s):

John J Parent ◽

Jeffrey A Towbin ◽

John L Jefferies

Keyword(s):

Extracellular Matrix ◽

Gene Mutation ◽

Marfan Syndrome ◽

Gene Mutations ◽

Left Ventricular ◽

Current Evidence ◽

Causative Gene ◽

Fbn1 Gene ◽

Gene Testing ◽

Fibrillin 1

Introduction: Left ventricular non-compaction cardiomyopathy (LVNC) is a rare and unique cardiomyopathy. Its presentation can range from a benign phenotype to overt heart failure and sudden cardiac death. The genetics of LVNC are not completely understood and current genetic testing has a yield of about 30% in identifying a causative gene mutation. We present a series of patients with LVNC and fibrillin-1 (FBN1) gene mutations. Hypothesis: We hypothesize that FBN1 gene mutations can lead to LVNC by way of its role in the myocardial extracellular matrix during cardiac development. Methods: A retrospective review of all patients with LVNC at our institution was performed for purposes of another investigation. The process unexpectedly identified patients with LVNC and FBN1 gene mutations, as well as LVNC and Marfan syndrome. Results: Approximately 150 patients are followed in our clinic with LVNC. We screened this population and found 51 patients on medical therapy for reduced function. We retrospectively reviewed gene testing in these 51 patients, when available, and identified 5 patients (10%) with an FBN1 gene mutation. All 5 patients had a dilated LVNC phenotype and previous or current evidence of left ventricular dysfunction. Syndrome breakdown as follows: 3 with Marfan, 1 with Shprintzen-Goldberg, and 1 with no identifiable syndrome. Dilated cardiomyopathy/LVNC gene testing was performed in 3 patients; 2 had disease causing myosin heavy chain 7 gene defects and 1 had no defects. Conclusions: The role of FBN1 in the human myocardium is not completely understood but it is expressed in the developing fetal heart and is a component of the myocardial extracellular matrix. Although causation has not been proven by our report, it certainly raises interest in a mechanistic relationship between LVNC and FBN1 given the increased prevalence of Marfan syndrome and probable increased prevalence of FBN1 gene mutations in this cohort of LVNC patients in light of FBN1.

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