Results 21 to 30 of about 19,820 (226)
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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Marfan Syndrome and Autosomal Dominant Polycystic Kidney Disease: A Case of Rare Co-occurrence or Coincidence? [PDF]
, 2022 Background: Marfan syndrome (MFS) and autosomal dominant kidney disease (ADPKD) are two separate genetic disorders. The author describes the case of a young male with ADPKD who incidentally had Marfan-like features. A literature review was carried out to
Arjun Sekar
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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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Therapeutic Opportunities of Marfan Syndrome: Current Perspectives. [PDF]
Drug Des Devel TherXiaoying Feng,1,* Chao Qu,2,* Ping Jia,3,* Ding Ding Zhang4 1College of Medical Technology, Chengdu University of Traditional Chinese Medicine, Chengdu, People’s Republic of China; 2Department of Ophthalmology, Sichuan Provincial ...
Feng X, Qu C, Jia P, Zhang DD.
europepmc +2 more sources
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
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Outcome of Stanford type B dissection in patients with Marfan syndrome. [PDF]
, 2023 OBJECTIVE To determine the outcome of Stanford type B aortic dissection in patients with Marfan syndrome and to evaluate aortic diameters at time of dissection as well as the impact of previous aortic root replacement.
Nucera, Maria +15 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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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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