Results 21 to 30 of about 3,631,363 (269)

MARFAN'S SYNDROME [PDF]

British Journal of Ophthalmology, 1959
Abstract The case is presented of a 46-year-old Negro woman with the classic features of Marfan's syndrome: spider fingers, ectopia lentis, aneurysms of the sinuses of Valsalva, dilatation of the aortic ring, and aortic regurgitation. The occurrence of medial degeneration of the great vessels is now recognized to be the most important aspect of the ...
openaire   +4 more sources

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 revisited: From genetics to the clinic.

Revista Portuguesa de Cardiologia, 2020
Marfan syndrome is an autosomal dominant connective tissue disease with an estimated incidence of 1 in 5000 individuals. In 90% of cases it is caused by mutations in the gene for fibrillin-1, the main constituent of extracellular microfibrils. Studies on
S. Coelho, A. Almeida
semanticscholar   +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

Eyes wide shut - unusual two stage repair of pectus excavatum and annuloaortic ectasia in a 37 year old marfan patient: Case report [PDF]

, 2011
We report about a 37 year old male patient with a pectus excavatum. The patient was in NYHA functional class III. After performed computed tomography the symptoms were thought to be related to the severity of chest deformation.
Grapow Martin TR, Martin TR Grapow, Jaume Mulet, Paula Campelos, Clemente Barriuso, Barriuso Clemente, Mulet Jaume, Mulet, Jaume, Grapow, Martin TR, Barriuso, Clemente, Campelos, Paula, Campelos Paula   +11 more
core   +2 more sources

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

Marfan syndrome [PDF]

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

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

Intracranial Arterial Tortuosity in Marfan Syndrome and Loeys-Dietz Syndrome: Tortuosity Index Evaluation Is Useful in the Differential Diagnosis

American Journal of Neuroradiology, 2020
BACKGROUND AND PURPOSE: The association of arterial tortuosity and connective tissue diseases is widely reported in the literature, but only a few studies were based on a quantitative evaluation of this arterial phenotype, and none of the latter examined
L. Spinardi, G. Vornetti, S. D. De Martino, R. Golfieri, L. Faccioli, M. P. Trossello, C. Graziano, E. Mariucci, A. Donti   +8 more
semanticscholar   +1 more source

Irbesartan in Marfan syndrome (AIMS): a double-blind, placebo-controlled randomised trial

The Lancet, 2019
Summary Background Irbesartan, a long acting selective angiotensin-1 receptor inhibitor, in Marfan syndrome might reduce aortic dilatation, which is associated with dissection and rupture.
M. Mullen, M. Mullen, Xu Y. Jin, Xu Y. Jin, Anne Child, A. G. Stuart, M. Dodd, J. Aragon-Martin, D. Gaze, A. Kiotsekoglou, A. Kiotsekoglou, A. Kiotsekoglou, Li Yuan, Li Yuan, Li Yuan, Jiangting Hu, Jiangting Hu, C. Foley, L. V. Dyck, Rosemary C. Knight, T. Clayton, L. Swan, J. Thomson, G. Erdem, David K. Crossman, M. Flather, M. Flather, John Dean, B. Was, H. Gow, J. Murray, M. D'allessandro, M. Christie, P. Cooper, Philip Booth, Sharon L. Burns, Yvonne Paterson, A. Chikermane, Anthony Assing, C. Cotter, G. Atkins, H. Williamson, Justin L. Barclay, A. Jennison, A. Henderson, A. McSkeane, H. Fairlamb, Julie Kelly, N. Kelsall, Scott A. Prentice, John O'Sullivan, Alison Head-Baister, A. Phillipson, A. Johnson, D. Crossland, J. Oliver, J. Davison, J. Wake, L. Quinn, M. Foreman, V. Wealleans, Niki Walker, A. Duncan, Evelyn Tibbs, R. Kelly, S. Khambadkone, Bridget Zotti, Cassie Brady, E. Cervi, E. Field, Eszter Szepezvary, Florence Mantey, G. Riley, Heather Titmus, I. Bo, J. Kaski, Lorene Green, N. Jones, Rebecca Banks, C. Kiesewetter, S. Mathur, A. Frigiola, A. Savis, H. Belfield, J. Guzmán, J. Harris, Karen M. Wilson, K. Peacock, Kirsty Gibson, P. Wellman, J. Simpson, S. Kabir, S. Mushemi, M. Stewart, B. Atkinson, C. Richardson, Elaine Leng, P. Brennan, A. Nixon, C. Spencer, J. Oliver, J. Forster, Louise Turner, S. Bainbridge, A. Choy, A. Dawson, Gwen Kiddie, Heather S. Kerr, I. Mordi, J. Duff, J. Dunlop, J. Berg, P. Armory, L. Freeman, Amir Anwar, C. Graham, Clare London, Gail Healey, Ian Gallagher, M. Ilsley, Rizwan Ahmed, S. Wood, N. Wheeldon, C. Mason, Farook Nassim, J. Middle, J. Adams, K. Angelini, K. Housley, Kim Ryalls, M. Agyemang, R. Walker, Robina Batigan, Tina Bennett, P. Clift, A. Alvior, A. Nilsson, Carole Green, Charlotte Crook, Connie Palmer, Elizabeth Dwenger, P. Doherty, R. Igbokwe, S. Sharif, S. Macdonald, C. West, K. Kirby, N. Naqvi, S. Welch, Suad Warsama, Wei Li, Zohreh Farzad, B. Smith, V. Murday, E. Murtagh, Emma K. Adams, Lesley Armour, S. Lilley, B. Pandya, Amy J. Richards, M. Andiapen, R. Macrae, M. Tome, Carmel Hutchinson, Kameka Angulo, Rooba Kauppayamootoo, S. Gati, E. Cruddas, W. Newman, Catherine Breen, Dhavendra Kumar, Dirk G. Wilson, A. Farrugia, A. Fraser, J. Sumers, J. Powell, Julie Edwards, T. Hale, Z. Boult, Aisling Carroll, G. Veldtman, A. Ho, D. Black, Lisa Fletcher, Susan Mapstone, T. Bharucha, G. Marsh, Joanne H. Jones, K. Sheehan, K. Selway, Kirsty Stevenson, MartinR . Nelson, R. Fairweather, S. Curtis, S. Simpson, M. Denvir, Audrey White, J. Steven, J. Munro, Wayne Lam, W. Toff, M. Petrou, P. Silcocks, R. Macallister   +203 more
semanticscholar   +1 more source