Forty-four percent of the fibrillin-1 gene (FBN1) from 19 unrelated families with Marfan syndrome was screened for putative mutations by single strand conformational polymorphism (SSCP) analysis. Four novel mutations were identified and characterised in five people, three with classical Marfan syndrome (two from one family, and one from an unrelated family), one with a more severe phenotype, an...

PURPOSE To assess implantation of an Artisan aphakic intraocular lens (IOL) in cases with subluxated lenses due to Marfan syndrome. METHODS Retrospective study of a small case series comprised of seven eyes (two children and three adults) with subluxated lenses due to Marfan syndrome that underwent lens extraction and Artisan aphakic IOL implantation. Best spectacle-corrected visual acuity an...

OBJECTIVES To assess the value of transoesophageal echocardiography in patients with Marfan syndrome particularly those with suspected aortic pathology or where conventional transthoracic imaging was suboptimal. DESIGN AND PATIENTS Eleven patients with Marfan syndrome. Seven patients were studied because of suspected aortic dissection and four because of inadequate transthoracic imaging. IN...

Marfan syndrome is one of the collagen vascular diseases that theoretically predisposes patients to excessive radiation-induced fibrosis yet there is minimal published literature regarding this clinical scenario. We present a patient with a history of Marfan syndrome requiring radiation for a diagnosis of a right brachial plexus malignant nerve sheath tumor. It has been suggested that plasma tr...

Objective: To evaluate the use of multiple displacement amplification (MDA) for whole-genome amplification in the preimplantation genetic diagnosis (PGD) of Marfan syndrome. Design: Multiple displacement amplification was used to amplify the whole-genome directly from a single cell. The MDA product was used for polymerase chain reaction (PCR) analysis of five different loci. At this point MDA w...

Marfan syndrome patients have connective tissue abnormalities that predispose them to intracardiac defects and postoperative complications. We present a case of late onset ASD device failure secondary movement within the atrial septum in girl with syndrome. This study suggests further studies are necessary determine optimal approach for repair this patient cohort.

OBJECTIVES We sought to assess outcomes in a series of young patients with Marfan syndrome and to define the prevalence of ventricular arrhythmias in this patient population. BACKGROUND While sudden death is a well-recognized outcome in Marfan syndrome, ventricular arrhythmias are not well described. METHODS Patients were followed with echocardiography, electrocardiography, and ambulatory e...

BACKGROUND Recent studies have demonstrated that blockade of the angiotensin II type 1 receptor with losartan decreases aortic damage in an animal model of Marfan syndrome (a KI mouse model with a pathogenic mutation in the gene coding for fibrillin-1). AIMS To demonstrate a beneficial effect of losartan on aortic dilatation when added to optimal therapy in patients with Marfan syndrome. ME...

Changes in the structure and metabolism of fibrillin, a microfibril associated protein, can result in classical Marfan syndrome, and reduced expression of decorin, a small extracellular chondroitin sulphate/dermatan sulphate proteoglycan, has been observed in fibroblasts of a patient with neonatally lethal Marfan syndrome. We have studied the synthesis of fibrillin and decorin in cultured fibro...