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https://www.readbyqxmd.com/read/28815188/painless-aortic-dissection-diagnostic-dilemma-with-fatal-outcomes-what-do-we-learn
#1
Saeeda Fatima, Konika Sharma
Aortic dissection is the most catastrophic clinical condition that involves the aorta. It has a high mortality as well as high rate of misdiagnosis due to frequent unusual presentation. Typically, it presents with acute chest, back, and tearing abdominal pain. However, it can present atypically with minimal or no pain, making diagnosis difficult. Physicians should always suspect acute aortic dissection in patients with certain clinical conditions like difficult-to-control hypertension, giant cell arteritis, bicuspid aortic valve, intracranial aneurysms, simple renal cysts, family history of aortic disease, and Marfan syndrome, especially when a patient presents with ischemic symptoms involving multiple organ without an obvious cause...
July 2017: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/28814491/surgical-treatment-of-marfan-syndrome-and-related-disorders-is-all-about-dealing-with-uncertainties
#2
EDITORIAL
Maarten Groenink, David R Koolbergen
No abstract text is available yet for this article.
August 16, 2017: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/28808903/clinical-outcomes-of-aortic-repair-in-young-adult-patients-with-acta2-mutations
#3
Yoshimasa Seike, Kenji Minatoya, Hiroaki Sasaki, Hiroshi Tanaka, Tatsuya Itonaga, Yosuke Inoue, Hiroko Morisaki, Takayuki Morisaki, Hatsue Ishibashi-Ueda, Junjiro Kobayashi
OBJECTIVES: Actin, alpha-2, smooth muscle, aorta (ACTA2) mutations are one of the major causes of familial thoracic aortic aneurysms and dissections. The aim of this study was to review our clinical results of young adult patients with aortic disease caused by ACTA2 mutations. METHODS: We reviewed the medical records of 251 patients (<50 years old) who underwent surgery for thoracic aortic diseases between 2004 and 2014. Among them, nine patients (3.5%) had ACTA2 mutations...
August 14, 2017: General Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28807406/longitudinal-changes-in-segmental-aortic-stiffness-determined-by-cardiac-magnetic-resonance-in-children-and-young-adults-with-connective-tissue-disorders-the-marfan-loeys-dietz-and-ehlers-danlos-syndromes-and-nonspecific-connective-tissue-disorders
#4
Anthony Merlocco, Ronald V Lacro, Kimberlee Gauvreau, Nicole Rabideau, Michael N Singh, Ashwin Prakash
Aortic stiffness measured by cardiac magnetic resonance (CMR) in connective tissue disorder (CTD) patients has been previously shown to be abnormal and to be associated with adverse aortic outcomes. The rate of increase in aortic stiffness with normal aging has been previously described. However, longitudinal changes in aortic stiffness have not been characterized in CTD patients. We examined longitudinal changes in CMR-derived aortic stiffness in children and young adults with CTDs. A retrospective analysis of 50 children and young adults (median age, 20 years; range, 0...
July 14, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28797584/long-term-outcomes-of-frozen-elephant-trunk-for-type-a-aortic-dissection-in-patients-with-marfan-syndrome
#5
Wei-Guo Ma, Wei Zhang, Jun-Ming Zhu, Bulat A Ziganshin, Ai-Hua Zhi, Jun Zheng, Yong-Min Liu, John A Elefteriades, Li-Zhong Sun
OBJECTIVE: The use of the frozen elephant trunk (FET) technique for repair of type A aortic dissection (TAAD) in Marfan syndrome (MFS) is controversial. We seek to evaluate the efficacy of FET and total arch replacement (TAR) for TAAD in patients with MFS. METHODS: The early and long-term outcomes were analyzed for 106 patients with MFS (mean age, 34.5 ± 9.7 years) undergoing FET + TAR for TAAD. RESULTS: Operative mortality was 6.6% (7 of 106)...
June 16, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28782645/marfan-syndrome-a-connective-tissue-disease-at-the-crossroads-of-mechanotransduction-tgf%C3%AE-signaling-and-cell-stemness
#6
REVIEW
Francesco Ramirez, Cristina Caescu, Elisabeth Wondimu, Josephine Galatioto
Mutations in fibrillin-1 cause Marfan syndrome (MFS), the most common heritable disorder of connective tissue. Fibrillin-1 assemblies (microfibrils and elastic fibers) represent a unique dual-function component of the architectural matrix. The first role is structural for they endow tissues with tensile strength and elasticity, transmit forces across them and demarcate functionally discrete areas within them. The second role is instructive in that these macroaggregates modulate a large variety of sub-cellular processes by interacting with mechanosensors, and integrin and syndecan receptors, and by modulating the bioavailability of local TGFβ signals...
August 4, 2017: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/28780662/bicuspid-aortic-valvulopathy-and-associated-aortopathy-a-review-of-contemporary-studies-relevant-to-clinical-decision-making
#7
REVIEW
Michael H Kwon, Thoralf M Sundt
The bicuspid aortic valve (BAV) phenotype is becoming increasingly recognized as a complex and heterogeneous clinical entity, with some but not all patients developing accelerated degrees of both aortic insufficiency (AI) and aortic stenosis (AS) in comparison to patients with tricuspid aortic valves (TAV). In addition, there remains a well-established association between the BAV phenotype and aortic enlargement independent of valve function as well as progression among some to ascending aortic aneurysm and the attendant concern over risk of aortic dissection...
September 2017: Current Treatment Options in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28780581/developing-a-shared-decision-support-framework-for-aortic-root-surgery-in-marfan-syndrome
#8
Tom Treasure, Annette King, Loreto Hidalgo Lemp, Tal Golesworthy, John Pepper, Johanna Jm Takkenberg
OBJECTIVE: The study is an early phase of development of a decision support framework for people with Marfan syndrome who are anticipating prophylactic aortic root surgery. Implications of the timing and the nature of the operation chosen were previously elicited in focus groups. In this step, we explored the range of relative values placed by individuals on the implications of decisions made about surgery. METHODS: Following the principles of the Ottawa Decision Support Framework, eight questions in the general form 'How important is it to you …' were framed by a panel...
August 5, 2017: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/28768908/nonmyocyte-erk1-2-signaling-contributes-to-load-induced-cardiomyopathy-in-marfan-mice
#9
Rosanne Rouf, Elena Gallo MacFarlane, Eiki Takimoto, Rahul Chaudhary, Varun Nagpal, Peter P Rainer, Julia G Bindman, Elizabeth E Gerber, Djahida Bedja, Christopher Schiefer, Karen L Miller, Guangshuo Zhu, Loretha Myers, Nuria Amat-Alarcon, Dong I Lee, Norimichi Koitabashi, Daniel P Judge, David A Kass, Harry C Dietz
Among children with the most severe presentation of Marfan syndrome (MFS), an inherited disorder of connective tissue caused by a deficiency of extracellular fibrillin-1, heart failure is the leading cause of death. Here, we show that, while MFS mice (Fbn1C1039G/+ mice) typically have normal cardiac function, pressure overload (PO) induces an acute and severe dilated cardiomyopathy in association with fibrosis and myocyte enlargement. Failing MFS hearts show high expression of TGF-β ligands, with increased TGF-β signaling in both nonmyocytes and myocytes; pathologic ERK activation is restricted to the nonmyocyte compartment...
August 3, 2017: JCI Insight
https://www.readbyqxmd.com/read/28761511/genetic-associations-of-intracranial-aneurysm-formation-and-sub-arachnoid-hemorrhage
#10
REVIEW
Christian B Theodotou, Brian M Snelling, Samir Sur, Diogo C Haussen, Eric C Peterson, Mohamed Samy Elhammady
Risk factors for cerebral aneurysms typically include age, hypertension, smoking, and alcohol usage. However, the possible connection of aneurysms with genetic conditions such as Marfan's syndrome, polycystic kidney disease, and neurofibromatosis raises the question of possible genetic risk factors for aneurysm, and additionally, genetic risk factors for rupture. We conducted a literature review using the PubMed database for studies regarding genetic correlation with cerebral aneurysm formation as well as rupture from December 2008 to Jun 2015...
July 2017: Asian Journal of Neurosurgery
https://www.readbyqxmd.com/read/28759515/importance-of-early-detection-and-cardiovascular-surgical-intervention-in-marfan-syndrome
#11
(no author information available yet)
No abstract text is available yet for this article.
July 2017: Advanced Emergency Nursing Journal
https://www.readbyqxmd.com/read/28759513/importance-of-early-detection-and-cardiovascular-surgical-intervention-in-marfan-syndrome
#12
Rita DelloStritto, Steve Branham, Christina Chemmachel, Jayna Patel, Dayna Skolkin, Salima Gilani, Klever Uleanya
Marfan syndrome is an autosomal dominant connective tissue disorder that affects multiple systems, including the skeletal, ligamentous, oculofacial, pulmonary, abdominal, neurological, and cardiovascular systems. Cardiovascular complications, which involve the aorta and aortic valve, contribute most significantly to patient morbidity and mortality. A literature review was conducted on pathophysiology of the disease and recommendations for early diagnosis and treatment. Diagnosis largely relies on clinical features and a thorough history...
July 2017: Advanced Emergency Nursing Journal
https://www.readbyqxmd.com/read/28759179/neonatal-marfan-syndrome-report-of-two-cases
#13
Tomas Jurko, Alexander Jurko, Milan Minarik, Vladimir Micieta, Ingrid Tonhajzerova, Hana Kolarovszka, Mirko Zibolen
Marfan syndrome is rarely diagnosed in the neonatal period because of variable expression and age-dependent appearance of clinical signs. The prognosis is usually poor due to high probability of congestive heart failure, mitral and tricuspid regurgitations with suboptimal response to medical therapy and difficulties in surgical management. The authors have studied two cases of Marfan syndrome in the newborn period. Two cases of neonatal Marfan syndrome, one male and one female, were diagnosed by characteristic physical appearance...
July 2, 2017: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/28748991/-analysis-of-incident-reports-in-an-anesthesiology-unit-of-a-university-hospital
#14
Luis Marfán, Juan C Pedemonte, Daniela Sandoval, Constanza Ferdinand, Lorena Camus, Héctor J Lacassie
BACKGROUND: Incident reporting is an effective strategy used to enhance patient safety. An incident is an event that could eventually result in harm to a patient. AIM: To classify and analyze incidents reported by an Anesthesiology division at a University hospital in Chile. MATERIAL AND METHODS: A retrospective analysis of the reported incidents registered in our institutional database from January 2008 to January 2014. They were classified according to three variables proposed by the World Health Organization system to determine the type of incident and patients’ potential harm...
April 2017: Revista Médica de Chile
https://www.readbyqxmd.com/read/28733705/-unclear-right-atrial-tumor-in-a-40-year-old-patient-with-marfan-syndrome
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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