Revista Ciências em Saúde, 2014 Introdução: A síndrome de Marfan (SMF) é uma doença do tecido conjuntivo, com herança autossômica dominante com incidência de 2-3 para cada 10.000 indivíduos.Casuística: Relataremos um caso de um paciente portador de Síndrome de Marfan que foi ...
Eduardo Tadeu Ramos Almeida +2 more
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An iPSC-derived vascular model of Marfan syndrome identifies key mediators of smooth muscle cell death. [PDF]
, 2016 Marfan syndrome (MFS) is a heritable connective tissue disorder caused by mutations in FBN1, which encodes the extracellular matrix protein fibrillin-1.
Bernard, William George +6 more
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, 2017 Marfan syndrome is an autosomal dominant disorder of connective tissue in which abnormalities in the cardiovascular, skeletal, and ocular systems may be present to a highly variable degree. Marfan syndrome is caused by mutations in the FBN1 gene, which affect the structural integrity of the extracellular matrix and weaken the connective tissues ...
Franken, Romy, Mulder, Barbara J. M.
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Journal of Vascular Surgery Cases and Innovative Techniques, 2018 Internal mammary artery (IMA) aneurysms are very rare, have a high risk of rupture, and can cause hemothorax. Here, we report the case of a 33-year-old man with metachronal and bilateral IMA aneurysms. He had Marfan syndrome diagnosed by genetic testing.
Toshiki Fujiyoshi, MD +3 more
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Personalised external aortic root support (PEARS) in Marfan syndrome: analysis of 1–9 year outcomes by intention-to-treat in a cohort of the first 30 consecutive patients to receive a novel tissue and valve-conserving procedure, compared with the published results of aortic root replacement [PDF]
, 2014 Tom Treasure +10 more
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Marfan syndrome diagnosis and management
SA Heart Journal, 2017 Marfan syndrome is the most common inherited multisystem disorder of connective tissue. This autosomal dominant condition has an incidence of 2-3 per 10,000 individuals. Although genetic diagnostic techniques are available, the diagnosis is primarily
Naser M. Ammash, Heidi M. Connolly
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A patient with Marfan syndrome in a general practitioner’s office
Pediatria i Medycyna Rodzinna, 2015 Marfan syndrome is a disorder of the connective tissue (fibrillins and elastins). It is an autosomal dominant disease associated with a defect of chromosome 15 which encodes fibrillin-1.
Magdalena Czerżyńska +3 more
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Project Retrosight. Understanding the returns from cardiovascular and stroke research: Case Studies [PDF]
, 2011 Copyright @ 2011 RAND Europe. All rights reserved. The full text article is available via the link below.This project explores the impacts arising from cardiovascular and stroke research funded 15-20 years ago and attempts to draw out aspects of the ...
Buxton, MJ +4 more
core
Outcome of aortic surgery in patients with Loeys-Dietz syndrome primarily treated as having Marfan syndrome [PDF]
, 2014 Florian Schoenhoff +6 more
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Anti-TGFβ (Transforming Growth Factor β) Therapy With Betaglycan-Derived P144 Peptide Gene Delivery Prevents the Formation of Aortic Aneurysm in a Mouse Model of Marfan Syndrome [PDF]
, 2021 Cristina Arce +8 more
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