Decreased rotational flow and circumferential wall shear stress as early markers of descending aorta dilation in Marfan syndrome: a 4D flow CMR study
Diseases of the descending aorta have emerged as a clinical issue in Marfan syndrome following improvements in proximal aorta surgical treatment and the consequent increase in life expectancy. Although a role ...
Marfan syndrome (MS) is an autosomal dominant connective tissue disorder that causes a defect in the gene fibrillin-1. MS patients develop advanced cardiomyopathies, in which previous studies have demonstrated the presence of a discrete cardiomyopathy associated with MS. Given the vascular complications associated with MS and unclear impact immunosuppression may have on systemic vascular disease, little evidence guides suitability of patients with MS for heart transplant. We sought to investigate long-term heart transplant outcomes of patients with MS listed in the UNOS registry.
Conditions: Marfan Syndrome; Ectopia Lentis Intervention: Other: ophthalmological examinations using a slit lamp bio microscopy and a three-mirror lens, standard procedure. Sponsor: Hospices Civils de Lyon Completed
Conclusion: The outcomes of surgery on the root and ascending aorta in Marfan patients in the United Kingdom are satisfactory; however, the overall complexities of this patient population are not well understood and would benefit from further investigations.
Marfan syndrome (MFS) is a connective tissue disorder caused by mutations of the FBN1 gene encoding fibrillin-1, which leads to overexpression of transforming growth factor- β, increased hyaluronan deposition, and matrix metalloproteinase activity in the media of the aorta and other muscular arteries. Marfan syndrome patients present with connective tissue laxity and aneurysmal changes to muscular arteries. Successful medical and surgical intervention has prolonged the life expectancy of MFS patients, which can allow atypical presentations of the syndrome to manifest.
Aortic dissection is a rare and emergent condition. Aortic dissection during pregnancy is not much known but it is quite lethal to both mother and infant. Earlier reports published show that clinicians conduct...
Abstract Pectus excavatum is a common chest malformation, classically asymptomatic. Pectus excavatum surgery allows aesthetic correction. Funnel chest is a malformation frequently associated with thoracic scoliosis, especially in Marfan's syndrome. Scoliosis are treated with first-line non- surgical treatment. Second line treatment consists in scoliosis surgery. PMID: 32173337 [PubMed - as supplied by publisher]
Abstract Elastic fibres provide tissues with elasticity and flexibility. In the healthy human cornea, elastic fibres are limited to the posterior region of the peripheral stroma, but their specific functional role remains elusive. Here, we examine the physical and structural characteristics of the cornea during development in the mgΔloxPneo dominant-negative mouse model for Marfan syndrome, in which the physiological extracellular matrix of its elastic-fibre rich tissues is disrupted by the presence of a dysfunctional fibrillin-1 glycoprotein. Optical coherence tomography demonstrated a reduced corneal thick...
This article is protected by copyright. All rights reserved. PMID: 32141660 [PubMed - as supplied by publisher]
Abstract Mitral valve construction using decellularized bovine pericardium is a new procedure. Ten month old infant with neonatal Marfan syndrome underwent mitral valve replacement due to severe mitral regurgitation with a cylinder valve constructed from decellularized bovine pericardium. Nineteen-months post-operatively, the patient is clinically well with trivial mitral regurgitation, mild stenosis, and without need for anticoagulation. PMID: 32151574 [PubMed - as supplied by publisher]
ConclusionSSFIOL provides good visual outcomes in eyes with ectopia lentis associated with Marfan syndrome. Complications can be seen in some cases, and the parents need to be counseled regarding the same before surgical intervention.