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https://www.readbyqxmd.com/read/28733705/-unclear-right-atrial-tumor-in-a-40-year-old-patient-with-marfan-syndrome
#1
S Baarfuß, J Haimerl, B Zrenner, A Liebold, K Holzapfel
No abstract text is available yet for this article.
July 21, 2017: Der Radiologe
https://www.readbyqxmd.com/read/28730163/brain-strokes-related-to-aortic-aneurysma-the-analysis-of-three-cases
#2
Żanna Pastuszak, Adam Stępień, Joanna Kordowska, Agnieszka Rolewska, Dariusz Galbarczyk
Brain stroke connected with aortic blood flow disturbances is a rare disease and its incidence is difficult to assume. Nevertheless, 10-50% of patients with aortic dissection may not experience any pain. In case of 18-30% patients with aortic dissection neurological signs are first disease presentation and among them ischemic stroke is the most common. The most popular aortic dissection classification is with use of Stanford system. Type A involves the ascending aorta and type B is occurring distal to the subclavian artery...
2017: Open Medicine (Warsaw, Poland)
https://www.readbyqxmd.com/read/28727149/aortic-microcalcification-associates-with-elastin-fragmentation-in-marfan-syndrome
#3
Shaynah A Wanga, Stijntje Hibender, Yanto Ridwan, Cindy van Roomen, Mariska Vos, Ingeborg van der Made, Nicole van Vliet, Romy Franken, Luigi Amjg van Riel, Maarten Groenink, Aeilko H Zwinderman, Barbara Jm Mulder, Carlie Jm de Vries, Jeroen Essers, Vivian de Waard
Marfan syndrome (MFS) is a connective tissue disorder, in which aortic rupture is the major cause of death. MFS patients with an aortic diameter below the advised limit for prophylactic surgery (<5cm) may unexpectedly experience an aortic dissection or rupture, despite yearly monitoring. Hence, there is a clear need for improved prognostic markers to predict such aortic events. We hypothesize that elastin fragments play a causal role in aortic calcification in MFS and that microcalcification serves as a marker for aortic disease severity...
July 20, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28724353/marfan-syndrome-and-cardiovascular-complications-results-of-a-family-investigation
#4
Simon Antoine Sarr, Siddikatou Djibrilla, Fatou Aw, Malick Bodian, Kana Babaka, Aliou Alassane Ngaidé, Momar Dioum, Serigne Abdou Ba
BACKGROUND: Cardiovascular complications in Marfan syndrome (MFS) make all its seriousness. Taking as a basis the Ghent criteria, we conducted a family screening from an index case. The objective was to describe the clinical characteristics of MFS anomalies and to detect cardiovascular complications in our patients. CASE PRESENTATION: Six subjects were evaluated. Patients had to be in the same uterine siblings of the index case or be a descendant. The objective was to search for MFS based on the diagnostic criteria of Ghent and, subsequently, detecting cardiovascular damage...
July 19, 2017: BMC Cardiovascular Disorders
https://www.readbyqxmd.com/read/28716062/the-effects-of-acute-and-elective-cardiac-surgery-on-the-anxiety-traits-of-patients-with-marfan-syndrome
#5
Kálmán Benke, Bence Ágg, Miklós Pólos, Alex Ali Sayour, Tamás Radovits, Elektra Bartha, Péter Nagy, Balázs Rákóczi, Ákos Koller, Viola Szokolai, Julianna Hedberg, Béla Merkely, Zsolt B Nagy, Zoltán Szabolcs
BACKGROUND: Marfan syndrome is a genetic disease, presenting with dysfunction of connective tissues leading to lesions in the cardiovascular and skeletal muscle system. Within these symptoms, the most typical is weakness of the connective tissue in the aorta, manifesting as aortic dilatation (aneurysm). This could, in turn, become annuloaortic ectasia, or life-threatening dissection. As a result, life-saving and preventative cardiac surgical interventions are frequent among Marfan syndrome patients...
July 17, 2017: BMC Psychiatry
https://www.readbyqxmd.com/read/28715511/endovascular-treatment-of-genetically-linked-aortic-diseases
#6
D Böckler, K Meisenbacher, A S Peters, C Grond-Ginsbach, M S Bischoff
BACKGROUND: The most important structural proteins of the vascular wall are collagen and elastin. Genetically linked connective tissue diseases lead to degeneration, aneurysm formation and spontaneous dissection or rupture of arteries. The most well-known are Marfan syndrome, vascular Ehlers-Danlos syndrome (type IV), Loeys-Dietz syndrome and familial aortic aneurysms and dissections. OBJECTIVE: This review article addresses the current status of endovascular treatment options for important connective tissue diseases...
2017: Gefässchirurgie: Zeitschrift Für Vaskuläre und Endovaskuläre Chirurgie
https://www.readbyqxmd.com/read/28714634/-pectus-excavatumn-and-carinatum-in-children-and-adolescents-what-to-say-what-to-do
#7
Pierre Lascombes, Isabelle Ruchonnet-Métrailler, Maurice Beghetti, Armand Bottani, James Wilde
In children presenting with a pectus excavatum (PE) or pectus carinatum (PC) an underlying syndrome including Marfan's syndrome needs to be excluded. In adolescents, severe chest wall deformities may cause cardiac or respiratory problems but most commonly they have a psychological impact. The conservative treatment is a Vacuum Bell for PE, and a Dynamic Compression System for PC ; they play an increasing role in young patients. These devices need to be worn multiple hours per day for several months for an optimal result...
February 15, 2017: Revue Médicale Suisse
https://www.readbyqxmd.com/read/28712304/regulation-of-cellular-redox-signaling-by-matricellular-proteins-in-vascular-biology-immunology-and-cancer
#8
David D Roberts, Sukhbir Kaur, Jeffrey S Isenberg
SIGNIFICANCE: In contrast to structural elements of the extracellular matrix, matricellular proteins appear transiently during development and injury responses, but their sustained expression can contribute to chronic disease. Through interactions with other matrix components and specific cell surface receptors matricellular proteins regulate multiple signaling pathways, including those mediated by reactive oxygen and nitrogen species and H2S. Dysregulation of matricellular proteins contributes to the pathogenesis of vascular diseases and cancer...
July 16, 2017: Antioxidants & Redox Signaling
https://www.readbyqxmd.com/read/28708846/sex-pregnancy-and-aortic-disease-in-marfan-syndrome
#9
Marjolijn Renard, Laura Muiño-Mosquera, Elise C Manalo, Sara Tufa, Eric J Carlson, Douglas R Keene, Julie De Backer, Lynn Y Sakai
BACKGROUND: Sex-related differences as well as the adverse effect of pregnancy on aortic disease outcome are well-established phenomena in humans with Marfan syndrome (MFS). The underlying mechanisms of these observations are largely unknown. OBJECTIVES: In an initial (pilot) step we aimed to confirm the differences between male and female MFS patients as well as between females with and without previous pregnancy. We then sought to evaluate whether these findings are recapitulated in a pre-clinical model and performed in-depth cardiovascular phenotyping of mutant male and both nulliparous and multiparous female Marfan mice...
2017: PloS One
https://www.readbyqxmd.com/read/28701211/inpatient-rehabilitation-for-adult-patients-with-marfan-syndrome-an-observational-pilot-study
#10
Dieter Benninghoven, Denise Hamann, Yskert von Kodolitsch, Meike Rybczynski, Julia Lechinger, Friedrich Schroeder, Marina Vogler, Eike Hoberg
BACKGROUND: Advances in medical, interventional and surgical treatment have increased average life expectancy of patients with congenital heart defects. As a result a new group of adult patients with congenital cardiac defects requires medical rehabilitation. Patients with Marfan syndrome (MFS) are a relevant group among these patients. So far, no reports on the effectiveness of specialized rehabilitation programmes for MFS patients exist. We implemented an inpatient 3-week rehabilitation program for MFS patients at the Muehlenberg-Clinic for rehabilitation and assessed the medical safety as well as the impact of the program on physical fitness and psychological wellbeing of participants by means of an observational pilot study...
July 12, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28701057/treatment-of-serious-complications-following-endovascular-aortic-repair-for-type-b-thoracic-aortic-dissection
#11
Zhao Liu, Yepeng Zhang, Chen Liu, Dian Huang, Ming Zhang, Feng Ran, Wei Wang, Tao Shang, Tong Qiao, Min Zhou, Changjian Liu
Objective This study aimed to describe treatment of serious complications after primary thoracic endovascular aortic repair (TEVAR) in type B aortic dissection. Methods From June 2008 to March 2016, serious complications occurred in 58 patients without Marfan syndrome who received TEVAR for type B aortic dissection. Results Complications included endoleak, distal true lumen collapse, retrograde dissection, stroke, stent-graft (SG) migration and mistaken deployment, lower limb ischaemia, and SG fracture. Treatment included endovascular repair, surgical procedures, or conservative medication...
January 1, 2017: Journal of International Medical Research
https://www.readbyqxmd.com/read/28696036/cervical-artery-dissection-expands-the-cardiovascular-phenotype-in-fbn1-related-weill-marchesani-syndrome
#12
Kelsey Newell, Wendy Smith, Brian Ghoshhajra, Eric Isselbacher, Angela Lin, Mark E Lindsay
Weill-Marchesani syndrome (WMS) is a rare form of acromelic dysplasia that is characterized by distinctive skeletal, ocular, and cardiovascular abnormalities. Previously described cardiac manifestations of WMS include aortic and pulmonary valve stenosis, mitral valve prolapse, mitral stenosis, and QTc prolongation. Autosomal dominant forms of WMS result from heterozygous pathogenic variants in FBN1, a gene with a well characterized role in the pathogenesis of thoracic aortic aneurysm (TAA) in the context of Marfan syndrome...
July 11, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28691228/intra-and-post-partum-acute-aortic-dissection-stanford-type-b-report-of-two-cases
#13
Mitsuhiro Tsuritani, Chizuko A Kamiya, Masami Sawada, Chinami Horiuchi, Naoko Iwanaga, Jun Yoshimatsu
Pregnancy with Marfan syndrome (MFS) presents challenges to the clinician because of the increased incidence of maternal cardiovascular complications, including acute aortic dissection (ADD) and the involvement of the fetus owing to the urgency of the need for surgery and the low likelihood of survival with premature delivery. Patient 1 was a 36-year-old pregnant Japanese woman with MFS who was referred at 16 gestational weeks with aortic root diameter 35.1 mm. Stanford type B AAD occurred on delivery without evident blood pressure changes...
July 10, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28680599/late-complications-after-cabrol-technique-in-a-case-with-marfan-syndrome
#14
Shin-Ichi Ohki, Ippei Takazawa, Hirohiko Akutsu, Yoshio Misawa
A patient with Marfan syndrome underwent aortic root replacement with the Cabrol technique at 37 years of age. She underwent a surgical repair for an aneurysm in the right coronary at 58 years of age, followed by a surgical repair for a pseudoaneurysm of the left coronary artery at 64 years of age.
July 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28679693/functional-validation-reveals-the-novel-missense-v419l-variant-in-tgfbr2-associated-with-loeys-dietz-syndrome-lds-impairs-canonical-tgf-%C3%AE-signaling
#15
Margot A Cousin, Michael T Zimmermann, Angela J Mathison, Patrick R Blackburn, Nicole J Boczek, Gavin R Oliver, Gwen A Lomberk, Raul A Urrutia, David R Deyle, Eric W Klee
TGF-β-related heritable connective tissue disorders are characterized by a similar pattern of cardiovascular defects, including aortic root dilatation, mitral valve prolapse, vascular aneurysms, and vascular dissections and exhibit incomplete penetrance and variable expressivity. Because of the phenotypic overlap of these disorders, panel-based genetic testing is frequently used to confirm the clinical findings. Unfortunately in many cases, variants of uncertain significance (VUSs) obscure the genetic diagnosis until more information becomes available...
July 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28679133/characterization-of-micro-rna-profile-in-the-blood-of-patients-with-marfan-s-syndrome
#16
Masood Abu-Halima, Nicole Ludwig, Tanja Rädle-Hurst, Andreas Keller, Lars Motsch, Ina Marsollek, Mohammed Abd El Rahman, Hashim Abdul-Khaliq, Eckart Meese
No abstract text is available yet for this article.
July 5, 2017: Thoracic and Cardiovascular Surgeon
https://www.readbyqxmd.com/read/28673264/distribution-of-axial-length-in-chinese-congenital-ectopia-lentis-patients-a-retrospective-study
#17
Yichi Zhang, Guangming Jin, Qianzhong Cao, Junxiong Lin, Jianqiang Lin, Yiyao Wang, Su Ern Poh, Charlotte Aimee Young, Danying Zheng
BACKGROUND: Congenital ectopia lentis (CEL) usually leads to refractive error and may influence the axial length development. But few investigations have reported patient demographics and the distribution of axial length (AL) before surgery in Chinese pediatric patients with CEL. To describe the distribution of AL before surgery in CEL patients and its relationship with patients' demographics, such as age, Marfan syndrome, sex, and laterality. METHODS: This retrospective study reviewed 306 CEL patients from January 1, 2006 to December 31, 2015...
July 3, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/28672420/-30-year-old-patient-with-suspected-marfan-syndrome-and-progressive-gait-disturbance
#18
Maryam Balke, Helmar C Lehmann, Gereon R Fink, Gilbert Wunderlich
History A 30-year-old man presented with a history of progressive muscle weakness, difficulty in concentrating, and a slender habitus since early childhood. Marfan syndrome was suspected since the age of 14. Examinations 13 years later he was examined by Marfan experts and by genetic testing and Marfan syndrome could not be confirmed. Further neurological examination revealed the suspected diagnosis of myotonic dystrophy type 1, which was confirmed by genetic testing. Treatment and course Similar to Marfan syndrome, myotonic dystrophy is a multisystemic disorder with the risk of cardiac arrythmias...
July 2017: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/28671863/rethinking-the-paradigm-modern-approach-to-proximal-aortic-reconstruction-demonstrates-excellent-outcomes
#19
Jonathan M Hemli, Edward R R DeLaney, Kush R Dholakia, Dror Perk, Nirav C Patel, S Jacob Scheinerman, Derek R Brinster
BACKGROUND: Techniques for aortic surgery continue to evolve. A real-world snapshot of patients undergoing elective surgery for aneurysm in the modern era is helpful to assist in deciding the appropriate timing for intervention. We herein describe our experience with 100 consecutive patients who underwent primary elective surgery for aneurysm of the proximal thoracic aorta over a two-year period at a single institution. METHODS: The majority of our patients were male, mean age 61...
June 20, 2017: Heart Surgery Forum
https://www.readbyqxmd.com/read/28670063/aorto-right-atrial-fistula-after-bentall-repair
#20
Charles E Howard, Carlos E Velasco, Christina P Roullard, Aldo Rafael
We describe a man with the Marfan syndrome and a prior ascending aortic aneurysm resection who presented with knee pain and concern of endocarditis. Transesophageal echocardiogram showed no vegetations, and computed tomography angiogram of the heart showed a possible pseudoaneurysm. Cardiac catheterization and aortogram revealed the diagnosis of an aorto-right atrial fistula, which was then operatively repaired. This case highlights the role that cardiac catheterization with aortogram can play in the detection of aorto-atrial fistula...
July 2017: Proceedings of the Baylor University Medical Center
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