scholarly journals A Recurring FBN1 Gene Mutation in Neonatal Marfan Syndrome

2002 ◽  
Vol 156 (11) ◽  
pp. 1081 ◽  
Author(s):  
Amanda M. Jacobs ◽  
Ivanka Toudjarska ◽  
Andrew Racine ◽  
Petros Tsipouras ◽  
Michael W. Kilpatrick ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Marfan Syndrome ◽  
Fbn1 Gene ◽  
Neonatal Marfan Syndrome

Phenotypic Variability in Marfan Syndrome in a Family With a Novel Nonsense FBN1 Gene Mutation

2012 ◽  
Vol 65 (4) ◽  
pp. 380-381 ◽  
Author(s):  
Aránzazu Díaz de Bustamante ◽  
Eva Ruiz-Casares ◽  
M. Teresa Darnaude ◽  
Teresa Perucho ◽  
Gabriel Martínez-Quesada
Keyword(s):  
Gene Mutation ◽  
Marfan Syndrome ◽  
Phenotypic Variability ◽  
Fbn1 Gene

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

Circulation ◽  
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.

scholarly journals The effect of beta-blockers therapy on progression of thoracic aortic dilatation in the young Marfan syndrome patients: Difference between subtypes of FBN1 gene mutation

2018 ◽  
Vol 10 (3-4) ◽  
pp. 287-288
Author(s):  
Ngoc-Thanh Kim ◽  
Julie Plaisancie ◽  
Thomas Edouard ◽  
Miarisoa Ratsimandresy ◽  
Philippe Acar ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Marfan Syndrome ◽  
Beta Blockers ◽  
Aortic Dilatation ◽  
Fbn1 Gene

Functional pulmonary atresia in a patient with neonatal Marfan syndrome caused by a c.3602G>A mutation in exon 29 of the FBN1 gene

2008 ◽  
Vol 17 (2) ◽  
pp. 127-128 ◽  
Author(s):  
Murat Derbent ◽  
Deniz Anuk ◽  
Aylin Tarcan ◽  
Birgül Varan ◽  
Berkan Gurakan ◽  
...  
Keyword(s):  
Marfan Syndrome ◽  
Pulmonary Atresia ◽  
Fbn1 Gene ◽  
Neonatal Marfan Syndrome

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

2013 ◽  
Vol 24 (4) ◽  
pp. 735-738 ◽  
Author(s):  
Huda Elshershari ◽  
Catharine Harris
Keyword(s):  
Marfan Syndrome ◽  
Early Recognition ◽  
Molecular Genetic ◽  
Cardiac Abnormality ◽  
Genetic Studies ◽  
Dysmorphic Features ◽  
Fbn1 Gene ◽  
Fibrillin 1 ◽  
Aortic Root Dilatation ◽  
Neonatal Marfan Syndrome

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.

scholarly journals A novel FBN1 gene mutation associated with earlyonset pneumothorax in Marfan syndrome

2016 ◽  
Vol 13 (1) ◽  
pp. 41-45
Author(s):  
Min Ji Park ◽  
Dong Hun Lee ◽  
Young Lim Shin ◽  
Yong Hee Hong
Keyword(s):  
Gene Mutation ◽  
Marfan Syndrome ◽  
Fbn1 Gene

scholarly journals Family history of aortic dissection is not a risk factor in Marfan syndrome with a FBN1 gene mutation

2021 ◽  
Vol 42 (Supplement_1) ◽  
Author(s):  
M Tchitchinadze ◽  
O Milleron ◽  
L Eliahou ◽  
S Jadoui ◽  
N Ould Ouali ◽  
...  
Keyword(s):  
Risk Factor ◽  
Family History ◽  
Aortic Dissection ◽  
Gene Mutation ◽  
Marfan Syndrome ◽  
Aortic Surgery ◽  
Aortic Disease ◽  
Personal Risk ◽  
Fbn1 Gene ◽  
History Of

Abstract Background A history family of aortic dissection was considered as a risk factor for aortic dissection in patients with Marfan syndrome with a FBN1 mutation. Objectives Evaluate whether a family history of aortic dissection is a risk marker for dissection in this population Methods Retrospective study of patients coming to the reference centre between 1996 and 2018, carrying a FBN1 gene mutation. Pedigrees were obtained for each patient, and familial screening actively pursued. Patients with a family history of aortic dissection were compared with patients without family history of aortic dissection. Results 1700 patients (age 33.2 (±17) years, 51% women) with a FBN1 gene mutation were included. 145 (8,5%) patients underwent aortic dissection at a mean age of 37.9 (±11.4) years and 323 (19%) patients had been operated at 33.8 (±13.9) years. 481 patients had a family history of aortic dissection, including 38 who dissected themselves, and 88 who underwent surgery. 1219 had no family history of aortic dissection, including 107 who dissected themselves, and 235 who underwent surgery. Therefore, the personal risk for aortic dissection was similar in patients with and without a family history of aortic dissection (38/481, i.e. 7.9% vs 107/1219, i.e. 8.8%), as was the personal risk for prophylactic aortic surgery (88/481, i.e. 18.3% vs. 253/1219, i.e. 17.2%), and the risk for either aortic dissection or prophylactic aortic surgery (118/481, i.e. 24.5% vs. 328/1219, i.e. 26.9%). Conclusions In Marfan syndrome with a FBN1 gene mutation, a family history of aortic dissection is not a marker of aortic disease severity. FUNDunding Acknowledgement Type of funding sources: None.

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