Results 1 to 10 of about 35,038 (256)

Determinants of fatigue in patients with Marfan syndrome: a study using PROMS [PDF]

Orphanet Journal of Rare Diseases
Background Fatigue is often reported by individuals with Marfan syndrome (MFS). However, the determinants of fatigue and its impact on the daily lives of patients with MFS remain poorly understood.
Ines Cavalier, Leslie Toko Kamga, Laurence Morin, Laurence Bal, Laurence Faivre, Guillaume Jondeau, Viet-Thi Tran, Olivier Milleron   +7 more
doaj   +2 more sources

Aortic aneurysm and non-Hodgkin’s lymphoma in Marfan syndrome [PDF]

Turkish Journal of Hematology, 2009
The combination of Marfan syndrome with lymphoma is extremely rare. This report describes a case of Marfan syndrome who presented with chest discomfort and was diagnosed to have an aortic aneurysm and an additional incidental mediastinal mass that on ...
Sujoy Ghosh, Subrata Ghosh, Sandip Kumar Ghosh   +2 more
doaj   +1 more source

Unusual presentation of adult Marfan syndrome as a complex diaphragmatic hiatus hernia

Asian Journal of Surgery, 2017
Marfan syndrome is multisystem connective tissue disorder that primarily involves the skeletal, cardiovascular, and ocular systems. The gastrointestinal complications in Marfan syndrome are rare, with only a few case reports described in the literature ...
Shruti Thakur, Anupam Jhobta, Brij Sharma, Arun Chauhan, Charu S. Thakur   +4 more
doaj   +2 more sources

A novel pathogenic variant located just upstream of the C‐terminal Ser423‐X‐Ser425 phosphorylation motif in SMAD3 causing Loeys–Dietz syndrome

Molecular Genetics & Genomic Medicine, 2023
Objective Loeys–Dietz syndrome (LDS) is a heritable disorder of connective tissue closely related to Marfan syndrome (MFS). LDS is caused by loss‐of‐function variants of genes that encode components of transforming growth factor‐β (TGF‐β) signaling ...
Satoshi Ishii, Takayuki Fujiwara, Hiroki Yagi, Norifumi Takeda, Masahiko Ando, Haruo Yamauchi, Ryo Inuzuka, Yuki Taniguchi, Masaru Hatano, Issei Komuro   +9 more
doaj   +1 more source

A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus

Molecular Genetics & Genomic Medicine, 2021
Background Pathogenic variants in MYH11 are associated with either heritable thoracic aortic aneurysm and dissection (HTAAD), patent ductus arteriosus (PDA) syndrome, or megacystis‐microcolon‐intestinal hypoperistalsis syndrome (MMIHS).
Bertrand Chesneau, Aurélie Plancke, Guillaume Rolland, Bertrand Marcheix, Yves Dulac, Thomas Edouard, Julie Plaisancié, Marion Aubert‐Mucca, Sophie Julia, Maud Langeois, Thierry Lavabre‐Bertrand, Philippe Khau Van Kien   +11 more
doaj   +1 more source

Combined spinal-epidural anesthetic management of delivery for marfan syndrome: Case report

Journal of Obstetric Anaesthesia and Critical Care, 2023
Pregnancy in a patient with Marfan syndrome is associated with risks, including cardiovascular complications. The hemodynamic changes of pregnancy during delivery are deleterious to Marfan syndrome patients.
Matea Malinovic, Kimberly Babiash, Felecia Newton   +2 more
doaj   +1 more source

Musculoskeletal diseases in Marfan syndrome: a nationwide registry study

Orphanet Journal of Rare Diseases, 2022
Background Marfan syndrome is associated with abnormalities in the musculoskeletal system including scoliosis, pectus deformities, protrusio acetabuli, and foot deformities.
Niels H. Andersen, Ellen-Margrethe Hauge, Thomas Baad-Hansen, Kristian A. Groth, Agnethe Berglund, Claus H. Gravholt, Kirstine Stochholm   +6 more
doaj   +1 more source

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, R. Kammoun, C. Aissaoui, M. Karoui, F. Ellouz   +4 more
doaj   +1 more source

Fate of the distal aorta following root replacement in Marfan syndrome: a propensity score matched study

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, Suwei Chen, Congcong Luo, Congcong Luo, Yongliang Zhong, Zhiyu Qiao, Lizhong Sun, Junming Zhu   +7 more
doaj   +1 more source

Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature

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, Thomas Edouard, Yves Dulac, Hélène Colineaux, Maud Langeois, Nadine Hanna, Catherine Boileau, Pauline Arnaud, Nicolas Chassaing, Sophie Julia, Guillaume Jondeau, Aurélie Plancke, Philippe Khau Van Kien, Julie Plaisancié   +13 more
doaj   +1 more source