Results 1 to 10 of about 2,210,543 (259)

Giant Aortic Root Aneurysm in a Young Patient With Marfan Syndrome: A Clinical Image. [PDF]

Clin Case Rep
ABSTRACT Marfan syndrome predisposes individuals to severe cardiovascular complications, including aortic root aneurysms, with a high rupture risk. Timely diagnosis through advanced imaging and surgical intervention, such as the Bentall procedure, is essential.
Bukhari SMR, Raza MS, Ans M, Shanza U, Abbas J, Yousuf K, Raza M.   +6 more
europepmc   +2 more sources

Genotype-Phenotype Correlations, Treatment, and Prognosis of Children With Early-Onset (Neonatal) Marfan Syndrome. [PDF]

Clin Genet
Early‐onset Marfan syndrome (eoMFS) is a rare disorder with atrioventricular valve insufficiency being the most severe symptom. We propose to regard eoMFS as a spectrum, ranging from a severe disorder life‐threatening already before or immediately after birth, to a disorder with a better survival rate, creating a window for atrioventricular valve ...
van der Leest EC, van der Hulst AE, Pals G, Zhytnik L, Lai L, Jacquemart C, Mills L, Houben M, Jira P, Lunshof BL, Warnink-Kavelaars J, de Waard V, Menke LA.   +12 more
europepmc   +2 more sources

Human stem cell models for Marfan syndrome: a brief overview of the rising star in disease modelling [PDF]

Frontiers in Cell and Developmental Biology
The introduction of pluripotent stem cells into the field of disease modelling resulted in numerous opportunities to study and uncover disease mechanisms in a petri dish.
Jeffrey Aalders, Laura Muiño Mosquera, Laura Muiño Mosquera, Jolanda van Hengel   +3 more
doaj   +2 more sources

The Molecular Genetics of Marfan Syndrome

International Journal of Medical Sciences, 2021
Marfan syndrome (MFS) is a complex connective tissue disease that is primarily characterized by cardiovascular, ocular and skeletal systems disorders. Despite its rarity, MFS severely impacts the quality of life of the patients.
Qiu Du, Dingding Zhang, Zhuang Yue, Q. Xia, Taishen Wen, Haiping Jia   +5 more
semanticscholar   +1 more source

Aortic disease in Marfan syndrome is caused by overactivation of sGC-PRKG signaling by NO

Nature Communications, 2021
Thoracic aortic aneurysm, as occurs in Marfan syndrome, is generally asymptomatic until dissection or rupture, requiring surgical intervention as the only available treatment. Here, we show that nitric oxide (NO) signaling dysregulates actin cytoskeleton
Andrea de la Fuente-Alonso, M. Toral, Alvaro Alfayate, M. J. Ruíz-Rodríguez, Elena Bonzón-Kulichenko, G. Teixidó-Turà, S. Martínez-Martínez, María José Méndez-Olivares, D. López-Maderuelo, I. Gonzalez-Valdes, E. García-Izquierdo, S. Mingo, C. Martín, L. Muiño-Mosquera, J. De Backer, J. Nistal, A. Forteza, A. Evangelista, J. Vázquez, M. Campanero, J. Redondo   +20 more
semanticscholar   +1 more source

Age and Sex Dependency of Thoracic Aortopathy in a Mouse Model of Marfan Syndrome.

American Journal of Physiology. Heart and Circulatory Physiology, 2021
Thoracic aortic aneurysm is one of the manifestations of Marfan syndrome (MFS) that is known to affect men more severely than women. However, the incidence of MFS is similar between men and women. The aim of this study is to show that during pathological
Nazli Gharraee, Yujian Sun, J. Swisher, S. Lessner   +3 more
semanticscholar   +1 more source

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

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

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

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