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Marfans syndrome

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https://www.readbyqxmd.com/read/29146755/ocular-findings-in-loeys-dietz-syndrome
#1
Catharina Busch, Robert Voitl, Barbara Goergen, Tomasz Zemojtel, Petra Gehle, Daniel J Salchow
BACKGROUND: Loeys-Dietz syndrome (LDS), an autosomal-dominant connective tissue disorder, is characterised by systemic manifestations including arterial aneurysm and craniofacial dysmorphologies. Although ocular involvement in LDS has been reported, detailed information on those manifestations is lacking. METHODS: Retrospective chart review of patients with diagnosed LDS and comparison with age-matched control patients. RESULTS: Mean age was 37...
November 16, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/29142803/unprovoked-pulmonary-embolism-in-a-young-patient-with-marfan-syndrome
#2
Stella Pak, Andrew Kilgore, Rosanne Thornhill, Kyle Rako, Ali Meier, Gavriella Pora, Jillian M Costello, Christine Dee
Marfan syndrome is a rare connective tissue disorder with a prevalence of approximately 2 to 3 per 10,000 individuals. There have been some reports of young patients with Marfan syndrome developing arteriovenous thromboembolism. These events were unprovoked and recurrent. Owing to its rarity, hypercoagulopathy and other metabolic derangement in patients with Marfan syndrome remains largely unknown. Herein, we report a case of a young man with Marfan syndrome who had myocardial infarction and pulmonary embolism...
September 5, 2017: Curēus
https://www.readbyqxmd.com/read/29141531/statins-in-aortic-disease
#3
Vicky Tsigkou, Gerasimos Siasos, Eva Mpletsa, Maria-Paraskevi Panoilia, Aggeliki Papastavrou, Giorgos Kokosias, Evangelos Oikonomou, Marina Zaromitidou, Manolis Vavuranakis, Christodoulos Stefanadis, Dimitris Tousoulis
BACKGROUND: Numerous studies indicate that statins have also multiple beneficial actions (known as 'pleiotropic actions') on cardiovascular system through the improvement of endothelial dysfunction, inflammation, oxidative stress, increased arterial thrombosis, and the stabilization of the atherosclerotic plaque. Aortic disease primarily consists of aortic valve stenosis, aortic valve regurgitation, aneurysm disease, and genetic disorders such as Marfan syndrome, bicuspid aortic valve and aortic coarctation...
November 14, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/29114001/impaired-central-pulsatile-hemodynamics-in-children-and-adolescents-with-marfan-syndrome
#4
Andrea Grillo, Paolo Salvi, Susan Marelli, Lan Gao, Lucia Salvi, Andrea Faini, Giuliana Trifirò, Renzo Carretta, Alessandro Pini, Gianfranco Parati
BACKGROUND: Marfan syndrome is characterized by aortic root dilation, beginning in childhood. Data about aortic pulsatile hemodynamics and stiffness in pediatric age are currently lacking. METHODS AND RESULTS: In 51 young patients with Marfan syndrome (12.0±3.3 years), carotid tonometry was performed for the measurement of central pulse pressure, pulse pressure amplification, and aortic stiffness (carotid-femoral pulse wave velocity). Patients underwent an echocardiogram at baseline and at 1 year follow-up and a genetic evaluation...
November 7, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29110304/beta-blockers-for-preventing-aortic-dissection-in-marfan-syndrome
#5
REVIEW
Hyun-Kyoung Koo, Kendra Ak Lawrence, Vijaya M Musini
BACKGROUND: Marfan syndrome is a hereditary disorder affecting the connective tissue and is caused by a mutation of the fibrillin-1 (FBN1) gene. It affects multiple systems of the body, most notably the cardiovascular, ocular, skeletal, dural and pulmonary systems. Aortic root dilatation is the most frequent cardiovascular manifestation and its complications, including aortic regurgitation, dissection and rupture are the main cause of morbidity and mortality. OBJECTIVES: To assess the long-term efficacy and safety of beta-blocker therapy as compared to placebo, no treatment or surveillance only in people with Marfan syndrome...
November 7, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29104957/scleral-fixated-intraocular-lenses-past-and-present
#6
Maxwell S Stem, Bozho Todorich, Maria A Woodward, Jason Hsu, Jeremy D Wolfe
Intraocular lenses (IOLs) can have inadequate support for placement in the capsular bag as a result of ocular trauma, metabolic or inherited conditions such as Marfan's syndrome or pseudoexfoliation, or complicated cataract surgery. Surgical options for patients with inadequate capsular support include alternative placement in the anterior chamber (ACIOLs), fixation to the iris, or fixation to the sclera. The surgical techniques for each of these approaches have improved considerably over the last several decades resulting in improved visual and ocular outcomes...
March 2017: J Vitreoretin Dis
https://www.readbyqxmd.com/read/29097043/incidence-and-risk-factors-for-retrograde-type-a-dissection-and-stent-graft-induced-new-entry-after-thoracic-endovascular-aortic-repair
#7
Tao Ma, Zhi Hui Dong, Wei Guo Fu, Da Qiao Guo, Xin Xu, Bin Chen, Jun Hao Jiang, Jue Yang, Zhen Yu Shi, Ting Zhu, Yun Shi, Bao Hong Jiang, Xiao Yun Xu
OBJECTIVE: Stent graft (SG)-induced new entry (SINE) and retrograde type A dissection (RTAD) are serious device-related complications occurring after thoracic endovascular aortic repair (TEVAR) for Stanford type B aortic dissection (TBAD) and may lead to endograft-related complications including retrograde dissection and death. The purpose of this study was to investigate the incidence and risk factors for the development of RTAD and SINE after TEVAR for TBAD and to identify the complications associated with this...
October 30, 2017: Journal of Vascular Surgery
https://www.readbyqxmd.com/read/29093270/notch1-haploinsufficiency-causes-ascending-aortic-aneurysms-in-mice
#8
Sara N Koenig, Stephanie LaHaye, James D Feller, Patrick Rowland, Kan N Hor, Aaron J Trask, Paul Ml Janssen, Freddy Radtke, Brenda Lilly, Vidu Garg
An ascending aortic aneurysm (AscAA) is a life-threatening disease whose molecular basis is poorly understood. Mutations in NOTCH1 have been linked to bicuspid aortic valve (BAV), which is associated with AscAA. Here, we describe a potentially novel role for Notch1 in AscAA. We found that Notch1 haploinsufficiency exacerbated the aneurysmal aortic root dilation seen in the Marfan syndrome mouse model and that heterozygous deletion of Notch1 in the second heart field (SHF) lineage recapitulated this exacerbated phenotype...
November 2, 2017: JCI Insight
https://www.readbyqxmd.com/read/29082121/bilateral-posterior-crystalline-lens-dislocations-in-an-otherwise-healthy-child
#9
Omar A AlShehri, Hashem Almarzouki, Badr A Alharbi, Mohammed Alqahtani, Khaled Allam
Introduction: Ectopia lentis is defined as a crystalline lens displacement, either partially or completely, due to zonular abnormalities. It can be a result of trauma, hereditary ocular disease, or part of systemic diseases, like Marfan syndrome and homocystinuria. Case description: We report a case of a medically free 16-year-old girl, who was referred to our hospital complaining of poor vision and a squint in both eyes since childhood. Her history included a traffic accident when she was one-year-old. She was previously diagnosed with alternating esotropia, which was treated with glasses, alternating patching, and bilateral Botox injections...
2017: GMS Ophthalmology Cases
https://www.readbyqxmd.com/read/29063738/cardiovascular-outcomes-of-pregnancy-in-marfan-s-syndrome-patients-a-literature-review
#10
REVIEW
So Yeon Kim, Diana S Wolfe, Cynthia C Taub
AIMS: Pregnancy in patients with Marfan's syndrome (MFS) carries an increased risk of cardiovascular complications, resulting in increased maternal and fetal mortality and morbidity. Literature on MFS pregnant patients is relatively sparse, and there has yet to be a concrete consensus on the management of this unique patient population. The purpose of our paper is to provide a literature review of case reports and studies on MFS during pregnancy (published between 2005 and 2015) and to explore cardiovascular outcomes of patients with MFS...
October 23, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/29042385/association-between-malignancies-and-marfan-syndrome-a-population-based-nested-case-control-study-in-taiwan
#11
Chin-Wang Hsu, Jen-Chun Wang, Wen-I Liao, Wu-Chien Chien, Chi-Hsiang Chung, Chang-Huei Tsao, Yung-Fu Wu, Min-Tser Liao, Shih-Hung Tsai
OBJECTIVE: Marfan syndrome (MFS) involves a deficiency of the structural extracellular matrix component fibrillin-1 and overactivation of the transforming growth factor-β (TGF-β) signalling pathway. The TGF-β signalling pathway also actively participates in malignant transformation. Although anecdotal case reports have suggested associations between MFS/MFS-like conditions and several haematological and solid malignancies, such associations have not been thoroughly evaluated in large-scale studies...
October 16, 2017: BMJ Open
https://www.readbyqxmd.com/read/29040313/premature-aortic-smooth-muscle-cell-differentiation-contributes-to-matrix-dysregulation-in-marfan-syndrome
#12
Matthew Dale, Matthew P Fitzgerald, Zhibo Liu, Trevor Meisinger, Andrew Karpisek, Laura N Purcell, Jeffrey S Carson, Paul Harding, Haili Lang, Panagiotis Koutakis, Rishi Batra, Constance J Mietus, George Casale, Iraklis Pipinos, B Timothy Baxter, Wanfen Xiong
Thoracic aortic aneurysm and dissection are life-threatening complications of Marfan syndrome (MFS). Studies of human and mouse aortic samples from late stage MFS demonstrate increased TGF-β activation/signaling and diffuse matrix changes. However, the role of the aortic smooth muscle cell (SMC) phenotype in early aneurysm formation in MFS has yet to be fully elucidated. As our objective, we investigated whether an altered aortic SMC phenotype plays a role in aneurysm formation in MFS. We describe previously unrecognized concordant findings in the aortas of a murine model of MFS, mgR, during a critical and dynamic phase of early development...
2017: PloS One
https://www.readbyqxmd.com/read/29034043/suture-line-dehiscence-after-endovascular-aneurysm-repair-in-a-patient-with-marfan-syndrome
#13
Hirofumi Kasahara, Norimasa Haijima, Takashi Hachiya
A 68-year-old man with Marfan syndrome developed de-novo leakage after endovascular aneurysm repair of a Dacron graft. Findings at subsequent reoperation suggested that the rebound force on the endograft generated by marked longitudinal deformation in the Dacron graft may have placed stress on the suture line, leading to partial dehiscence. The Dacron graft seemed to provide a stable proximal landing zone. However, the strong tendency of some endograft devices to return to their original shape may apply stress that affected weakened regions of the native aorta...
June 25, 2017: Annals of Vascular Diseases
https://www.readbyqxmd.com/read/29034037/characteristics-of-abdominal-aortic-aneurysm-in-japanese-patients-aged-50-years-or-younger
#14
Mitsunori Nakano, Naoyuki Kimura, Harunobu Matsumoto, Tomoyasu Hirano, Koichi Adachi, Koichi Yuri, Atsushi Yamaguchi, Hideo Adachi
Objective: We investigated the characteristics and surgical outcomes of abdominal aortic aneurysm (AAA), which typically occurs in elderly persons, in Japanese patients aged 50 years or younger. Materials and Methods: Clinical records of 999 patients who underwent open or endovascular repair for AAA at our hospital between 2007 and 2015 were reviewed to identify the clinical characteristics and surgical outcomes of young patients with AAA. The cohort included 14 patients aged 50 years or younger (mean, 40.4 years; young group) and 985 patients aged older than 50 years (mean, 72...
June 25, 2017: Annals of Vascular Diseases
https://www.readbyqxmd.com/read/29030048/increased-prevalence-of-cerebrovascular-disease-in-hospitalized-patients-with-marfan-syndrome
#15
Sarasa T Kim, Harry Cloft, Kelly D Flemming, David F Kallmes, Giuseppe Lanzino, Waleed Brinjikji
BACKGROUND AND PURPOSE: Small studies have suggested that Marfan syndrome is associated with a number of cerebrovascular complications. We sought to determine whether a clinical diagnosis of Marfan syndrome is associated with a higher prevalence of cerebrovascular diseases than the general population by performing a case-control study of hospitalized patients in the Nationwide Inpatient Sample (NIS). METHODS: Using the 2000-2012 NIS, we performed a case-control study matching cases of Marfan syndrome to controls without such a diagnosis...
October 10, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/29027271/surgical-treatment-of-coronary-artery-aneurysms
#16
Erik Beckmann, Saad Rustum, Steffen Marquardt, Constanze Merz, Malakh Shrestha, Andreas Martens, Axel Haverich, Issam Ismail
INTRODUCTION: Coronary artery aneurysms (CAA) are rare. We present our experience with the surgical treatment of patients with CAAs. METHODS: Between March 2000 and October 2016, 15 patients with CAA underwent surgery. RESULTS: Mean age of patients was 60 ± 16 years and 47% (n = 7) were male. Kawasaki syndrome was present in two (13%) patients and 7% (n = 1) patients had Marfan syndrome. Isolated CAAs were found in 73% (n = 11) and involvement of multiple vessels was present in 27% (n = 4) of patients...
October 13, 2017: Journal of Cardiac Surgery
https://www.readbyqxmd.com/read/29022822/a-late-presentation-of-loeys-dietz-syndrome-associated-with-an-aortic-root-aneurysm
#17
A Harky, M Garner, N Roberts
Loeys-Dietz syndrome (LDS) is characterised by a mutation in the transforming growth factor beta receptor, and is strongly associated with aortic aneurysms and rupture. Most cases of LDS present in the second decade of life, with the average life expectancy being 37 years. We report a case of suspected LDS (owing to significant family history of the disorder) that presented in the seventh decade of life. Our patient had aortic root dilation and was initially believed to have Marfan syndrome. However, subsequent tests were negative...
February 13, 2017: Annals of the Royal College of Surgeons of England
https://www.readbyqxmd.com/read/29020253/aneurysmal-left-sinus-of-valsalva-in-marfan-s-syndrome
#18
Mohammed A Chamsi-Pasha, Gerald M Lawrie
No abstract text is available yet for this article.
July 31, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28993736/pathogenic-mechanisms-of-bicuspid-aortic-valve-aortopathy
#19
REVIEW
Noor M Yassine, Jasmine T Shahram, Simon C Body
Bicuspid aortic valve (BAV) is the most common congenital valvular defect and is associated with ascending aortic dilation (AAD) in a quarter of patients. AAD has been ascribed both to the hemodynamic consequences of normally functioning and abnormal BAV morphology, and to the effect of rare and common genetic variation upon function of the ascending aortic media. AAD manifests in two overall and sometimes overlapping phenotypes: that of aortic root aneurysm, similar to the AAD of Marfan syndrome; and that of tubular AAD, similar to the AAD seen with tricuspid aortic valves (TAVs)...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28985825/childhood-glaucoma-in-neonatal-marfan-syndrome-resulting-from-a-novel-fbn1-deletion
#20
Samir Nazarali, Safia A Nazarali, Angela Antoniuk, Mark Greve, Karim F Damji
No abstract text is available yet for this article.
October 2017: Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie
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