Marfan Syndrome Research Today is a free monthly online journal that collates and summarizes the latest research about Marfan Syndrome, including details on genetics, causes, symptoms, treatment.

Novel FBN1 mutation causes Marfan syndrome with bilateral ectopia lentis and refractory glaucoma.

Milla E, Leszczynska A, Rey A, Navarro M, Larena C

Institut Clinic d'Oftalmologia, ICOF, Hospital Clinic de Barcelona, Sabino Arana S/N, Barcelona - Spain.

Purpose. We report the case of a 41-year-old woman with bilateral lens subluxation and medically uncontrolled glaucoma in whom Marfan syndrome (MFS) was diagnosed. Methods. The patient underwent complete clinical eye and systemic examinations and blood samples were drawn for mutational screening of fibrillin 1 gene (FBN1). Results. The patient was diagnosed with MFS on a clinical basis and according to the Ghent criteria and the genetic testing revealed a novel heterozygous mutation in the FBN1 gene. The patient required pars plana vitrectomy with lensectomy and Ahmed valve implantation in the vitreous cavity to control her severe glaucoma. Conclusions. The diagnosis of a bilateral lens luxation must be followed by complete systemic examination and genetic analysis of the FBN1 gene in order to discard MFS due to its severe systemic complications. Frequently, the condition causes an aggressive secondary glaucoma that requires surgical treatment with lensectomy, vitrectomy, and drainage device implantation in order to avoid its devastating progression toward glaucomatous optic atrophy.

Published 13 July 2012 in Eur J Ophthalmol, 22(4): 667-9.
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Articles on Marfan Syndrome published 13 July 2012:

From tall to short: The role of TGFβ signaling in growth and its disorders.   Am J Med Genet C Semin Med Genet.

The acromelic dysplasia group is characterized by short stature, short hands and feet, stiff joint, and "muscular" build. Four disorders can now be ascribed to this group, namely Weill-Marchesani syndrome (WMS), geleophysic dysplasia (GD), acromicric dysplasia (AD), and Myhre syndrome (MS). Although closely similar, they can be distinguished by subtle clinical features and their pattern inheritance. WMS is characterized by the presence of dislocation of microspherophakia and has ... [Abstract] [Full-text]

The pulmonary artery in patients with Marfan syndrome: a cross-sectional study.   Genet Med.

Purpose:The objectives of this study were to establish the prevalence of pulmonary artery dilatation in Marfan syndrome using modern radiological methods and to correlate the diameter of the vessel with aortic disease.Methods:Magnetic resonance or computed tomography imaging of the pulmonary artery and aorta was performed in 87 patients with proven Marfan syndrome. Diameters of the root and trunk of the pulmonary artery and of the aortic root were measured perpendicular to the long axes of the ... [Abstract] [Full-text]

Single gene disorders of the aortic wall.   Cardiovasc Pathol, 21(4): 240-4.

Genetic diseases that affect the vasculature primarily affect the aortic root and ascending aorta. These conditions lead to aortic root dilatation, which, if not treated, will result in dissection and death. Often, aortic disease is just one manifestation of a syndrome with diverse findings. Some of these diseases were described over 100 years ago based on physical manifestations, and their causative genes are among the first described Mendelian causes of cardiovascular disease. Within the ... [Abstract] [Full-text]

Articles on Marfan Syndrome published 12 July 2012:

Newly developed aortic dissection after aorta cannulation during mitral valve surgery in a patient with marfan syndrome.   Korean Circ J, 42(6): 437-40.

We report a case of newly developed aortic dissection after aorta cannulation during mitral valve surgery in a patient with Marfan syndrome. An unexpected fatal complication of cardiac surgery detected on postoperative imaging survey in Marfan syndrome patient and its surgical finding are described. [Abstract] [Full-text]

Open Repair of Descending and Thoracoabdominal Aortic Aneurysms and Dissections in Patients Aged Younger Than 60 Years: Superior to Endovascular Repair?   Ann Thorac Surg.

BACKGROUND: The best option for repair of descending thoracic and thoracoabdominal aortic aneurysms (TAAA)-whether open operation or stent grafting-is increasingly a subject of controversy. We examined the results of open surgical repair in patients aged 60 years or younger to assess the value of conventional repair in younger patients. METHODS: From October 2002 to October 2010, 107 of 294 TAAA operations were in patients (75 men [70%]) aged a mean of 48 ± 9 years. Twelve patients (11%) had ... [Abstract] [Full-text]

Articles on Marfan Syndrome published 11 July 2012:

Novel pharmacological strategies to prevent aortic complications in Marfan syndrome.   J Geriatr Cardiol, 8(4): 254-7.

The Marfan syndrome (MFS) is a systemic connective tissue disorder caused by mutations in the FBN1 gene. Recent molecular studies, most performed in mouse models, revealed that the MFS is more a developmental abnormality with broad and complex effects on the morphogenesis and function of multiple organ systems. FBN1 haploinsufficiency and dysregulated transforming growth factor-beta (TGF-β) signaling seem to be critical for clinical manifestations in MFS including aortic root dilatation. ... [Abstract] [Full-text]

Articles on Marfan Syndrome published 9 July 2012:

Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections.   J Mol Med (Berl).

Excessive activation of the transforming growth factor beta signaling pathway and disorganized cellular skeleton caused by genetic mutations are known to be responsible for the inherited thoracic aortic aneurysms and dissections (TAAD), a life-threatening vascular disease. To investigate the genotype-phenotype correlation, we screened genetic mutations of fibrillin-1 (FBN1), transforming growth factor-β receptor-1 (TGFBR1) and transforming growth factor-β receptor-2 (TGFBR2) for TAAD in 7 ... [Abstract] [Full-text]

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.   Nat Genet.

A predisposition for thoracic aortic aneurysms leading to acute aortic dissections can be inherited in families in an autosomal dominant manner. Genome-wide linkage analysis of two large unrelated families with thoracic aortic disease followed by whole-exome sequencing of affected relatives identified causative mutations in TGFB2. These mutations-a frameshift mutation in exon 6 and a nonsense mutation in exon 4-segregated with disease with a combined logarithm of odds (LOD) score of 7.7. Sanger ... [Abstract] [Full-text]

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