Results 11 to 20 of about 15,745 (181)
Marfan syndrome and schizophrenia : a case report and literature review
European Psychiatry, 2022 Introduction Marfan syndrome is an autosomal dominant systemic disorder with connective tissue defects in multiple organ systems. Cardinal manifestations of this syndrome involve the cardiovascular, the skeletal and the ocular system.
S. Dhakouani +4 more
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BMJ Case Reports, 2013 Marfan syndrome is a rare autosomal dominant disorder of the connective tissue, with skeletal, ligamentous, orooculofacial, pulmonary, abdominal, neurological and the most fatal, cardiovascular manifestations. It has no cure but early diagnosis, regular monitoring and preventive lifestyle regimen ensure a good prognosis.
Eesha, Jain, Ramesh Kumar, Pandey
openaire +2 more sources
Frontiers in Cardiovascular Medicine, 2023 ObjectiveThe aortic root is the most frequent segment involved in Marfan syndrome. However, Marfan syndrome is a systemic hereditary connective tissue disorder, and knowledge regarding the outcomes of the native distal aorta after prophylactic aortic ...
Hao Liu +7 more
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Molecular Genetics & Genomic Medicine, 2020 Background Pathogenic SMAD3 variants are responsible for a cardiovascular phenotype, mainly thoracic aortic aneurysms and dissections. Precocious identification of the vascular risk such as aortic dilatation in mutated patients has a major impact in ...
Bertrand Chesneau +13 more
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Orthodontic Perspective on Marfan Syndrome: A Unique Case Report [PDF]
Journal of Clinical and Diagnostic Research, 2023 Marfan syndrome is considered a relatively rare genetic disorder that affects the connective tissues in the body. It is caused by a specific mutation in the Fibrillin 1 (FBN1) gene, which is a critical component of microfibrils.
Shiladitya Sil +3 more
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No beneficial effect of general and specific anti-inflammatory therapies on aortic dilatation in Marfan mice. [PDF]
PLoS ONE, 2014 AIMS:Patients with Marfan syndrome have an increased risk of life-threatening aortic complications, mostly preceded by aortic dilatation. In the FBN1(C1039G/+) Marfan mouse model, losartan decreases aortic root dilatation.
Romy Franken +8 more
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Stem Cell Research, 2021 Variants in FBN1 are associated with Marfan Syndrome, an autosomal dominant disorder with clinical features that involve the musculoskeletal, cardiovascular and ocular systems. We generated a human iPSC line QDMHi001-A from a patient with Marfan syndrome
Suihan Wu +3 more
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High prevalence of ventricular repolarization abnormalities in people carrying TGFβR2 mutations
Scientific Reports, 2018 Mutations in the TGFβR2 gene have been associated with a life threatening risk of aortic dissection but no arrhythmic death has been previously reported.
F. Extramiana +16 more
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Diagnosis and Management of Marfan Syndrome
Majalah Kardiologi Indonesia, 2014 Background: Marfan syndrome is an autosomal dominant disorder of connective tissue, involving cardiovascular, ocular, skeletal and skin, pulmonary, and dura mater.
Andi Mahavira, Bambang B Siswanto
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Twenty years' follow-up of a family with Marfan syndrome: A case series
Heart Views, 2021 Marfan syndrome is a rare connective tissue disorder manifesting with cardiovascular pathologies which are also the leading cause of death. Herein, we present the past 20 years follow up of a family with 17 members afflicted with Marfan syndrome.
Niloufar Valizadeh +4 more
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