Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.518
Abstract: Pathogenic variants in FBN1 cause autosomal dominant Marfan syndrome but can also be found in patients presenting with apparently isolated features of Marfan syndrome. Moreover, several families with autosomal recessive Marfan syndrome caused by pathogenic… read more here.
Keywords: syndrome caused; dominant marfan; marfan syndrome; autosomal dominant ... See more keywords
Pathophysiology and Pathogenesis of Marfan Syndrome.
Sign Up to like & getrecommendations! Published in 2021 at "Advances in experimental medicine and biology"
DOI: 10.1007/978-3-030-80614-9_8
Abstract: Marfan syndrome (MFS) is a systemic connective tissue disorder that is inherited in an autosomal dominant pattern with variable penetrance. While clinically this disease manifests in many different ways, the most life-threatening manifestations are related… read more here.
Keywords: pathogenesis marfan; marfan syndrome; marfan; pathophysiology pathogenesis ... See more keywords
Parsonage-Turner Syndrome and Closed-Incision Negative-Pressure Wound Therapy After Total Hip Arthroplasty in a Case of Marfan Syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Arthroplasty Today"
DOI: 10.1016/j.artd.2021.10.006
Abstract: Negative pressure wound therapy (NPWT) is a postoperative wound care method, which has recently become an ongoing field of research in hip and knee arthroplasty. We report the successful management of wound dehiscence and infection… read more here.
Keywords: pressure wound; negative pressure; wound therapy; marfan ... See more keywords
IS THERE AN INSTRINSIC ALTERATION OF AORTIC MECHANICAL PROPERTIES IN BICUSPID AORTIC VALVE PATIENTS? REGIONAL COMPARISON WITH TRICUSPID AND MARFAN PATIENTS THROUGH 4D FLOW MRI
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Hypertension"
DOI: 10.1097/01.hjh.0000539633.96692.3b
Abstract: Objective: Ascending aorta (AAo) dilation is highly prevalent in bicuspid aortic valve (BAV) patients. The etiology of dilation in BAV patients is widely discussed, with strong evidence for a role for both altered local hemodynamics… read more here.
Keywords: bav patients; aortic valve; marfan; bav ... See more keywords
A novel large in-frame FBN1 deletion causes neonatal Marfan syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Cold Spring Harbor Molecular Case Studies"
DOI: 10.1101/mcs.a006213
Abstract: Neonatal Marfan syndrome (nMFS) is a rare and severe form of Marfan syndrome (MFS) with a poor prognosis, that presents with a highly variable phenotype, particularly regarding skeletal, ocular, and cardiovascular manifestations. Mutations in the… read more here.
Keywords: deletion; neonatal marfan; frame; novel large ... See more keywords
An FBN1 deep intronic variant is associated with pseudoexon formation and a variable Marfan phenotype in a five generation family
Sign Up to like & getrecommendations! Published in 2023 at "Clinical Genetics"
DOI: 10.1111/cge.14322
Abstract: Exome sequencing of genes associated with heritable thoracic aortic disease (HTAD) failed to identify a pathogenic variant in a large family with Marfan syndrome (MFS). A genome‐wide linkage analysis for thoracic aortic disease identified a… read more here.
Keywords: phenotype; family; deep intronic; thoracic aortic ... See more keywords
Double decentred lenses in an eye: a therapeutic dilemma in Marfan syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Clinical and Experimental Optometry"
DOI: 10.1111/cxo.13075
Abstract: Marfan syndrome is a connective tissue disorder originating from a mutation in the fibrillin-1 gene. Ectopia lentis is a cardinal diagnostic sign of Marfan syndrome as previously described in the Ghent 1 criteria, and about… read more here.
Keywords: marfan syndrome; chamber intraocular; marfan; anterior chamber ... See more keywords
TEVAR in aortic dissection: A new standard for Marfan patients during COVID‐19?
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Cardiac Surgery"
DOI: 10.1111/jocs.14863
Abstract: Dear Editor, We read with interest the published article by Ikeda et al, they performed thoracic endovascular aortic repair (TEVAR) in a patient with Marfan syndrome (MFS) for acute complicated type B aortic dissection (TBAD)… read more here.
Keywords: new standard; tevar aortic; aortic dissection; dissection ... See more keywords
Different connective tissue disorders lead to similar outcomes of aortic disease: Are we missing something?
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Cardiac Surgery"
DOI: 10.1111/jocs.16856
Abstract: A myriad of heritable connective tissue disorders (CTDs) have been linked to an increased risk of developing aortic diseases and associated clinical complications such as aortic aneurysm, dissection, and/or rupture. Marfan syndrome, one of the… read more here.
Keywords: disease; outcomes aortic; tissue disorders; connective tissue ... See more keywords
Mild aerobic exercise blocks elastin fiber fragmentation and aortic dilatation in a mouse model of Marfan syndrome associated aortic aneurysm.
Sign Up to like & getrecommendations! Published in 2017 at "Journal of applied physiology"
DOI: 10.1152/japplphysiol.00132.2017
Abstract: Regular low-impact physical activity is generally allowed in patients with Marfan syndrome, a connective tissue disorder caused by heterozygous mutations in the fibrillin-1 gene. However, being above average in height encourages young adults with this… read more here.
Keywords: marfan syndrome; aortic aneurysm; marfan; exercise ... See more keywords
17 Beta-estradiol impedes aortic root dilation and rupture in male Marfan mice
Sign Up to like & getrecommendations! Published in 2023 at "Physiology"
DOI: 10.1152/physiol.2023.38.s1.5735279
Abstract: Background: Marfan syndrome causes a hereditary form of TAA with dilation of the aortic root. Male patients with Marfan syndrome are more likely than women to have aortic dilation and dissection and mouse models of… read more here.
Keywords: dilation; estradiol; physiology; mice ... See more keywords