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M arfan syndrome is a connective tissue disorder with manifestations in multiple organ systems. 1 Dilatation of the main pulmonary artery is one of the established criteria for the diagnosis of Marfan syndrome. Normal values have been assessed for the pulmonary artery bifurcation but not for the pulmonary artery root. 2 Since the pulmonary artery root(More)
Thoracic aortic aneurysms and dissections are a main feature of connective tissue disorders, such as Marfan syndrome and Loeys-Dietz syndrome. We delineated a new syndrome presenting with aneurysms, dissections and tortuosity throughout the arterial tree in association with mild craniofacial features and skeletal and cutaneous anomalies. In contrast with(More)
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS: MIM 270550) is a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity and peripheral neuropathy. This disorder, considered to be rare, was first described in the late seventies among French Canadians in the isolated Charlevoix-Saguenay region of Quebec.(More)
Loeys-Dietz syndrome (LDS) associates with a tissue signature for high transforming growth factor (TGF)-β signaling but is often caused by heterozygous mutations in genes encoding positive effectors of TGF-β signaling, including either subunit of the TGF-β receptor or SMAD3, thereby engendering controversy regarding the mechanism of disease. Here, we report(More)
BACKGROUND Aortic dissections involving the descending aorta are a major clinical problem in patients with Marfan syndrome. OBJECTIVES The purpose of this study was to identify clinical parameters associated with type B aortic dissection and to develop a risk model to predict type B aortic dissection in patients with Marfan syndrome. METHODS Patients(More)
PURPOSE To investigate the feasibility of magnetic resonance (MR) flow mapping in the assessment of aortic biophysical properties in patients with Marfan syndrome and to detect differences in biophysical properties in the normal-sized aorta distal to the aortic root between these patients and matched control subjects. MATERIALS AND METHODS Seventy-eight(More)
Left ventricular dimensions and systolic function were studied using echocardiography in 234 patients with Marfan's syndrome without significant valvular regurgitation. Left ventricular dimensions and systolic function were found to be normal in most patients with Marfan's syndrome. Some involvement of the left ventricle may have been present in a small(More)
BACKGROUND Aneurysms-osteoarthritis syndrome (AOS) is a new autosomal dominant syndromic form of thoracic aortic aneurysms and dissections characterised by the presence of arterial aneurysms and tortuosity, mild craniofacial, skeletal and cutaneous anomalies, and early-onset osteoarthritis. AOS is caused by mutations in the SMAD3 gene. METHODS A cohort of(More)
AIMS In women with Marfan syndrome pregnancy presents an increased risk of dilatation, dissection, and rupture of the aorta. The aim of this study was to investigate the influence of pregnancy on growth of the aortic root. METHODS AND RESULTS Between 1993 and 2004 127 women with Marfan syndrome were prospectively followed; 61 women had one or more(More)