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https://www.readbyqxmd.com/read/29352010/genetics-of-syndromic-and-non-syndromic-mitral-valve-prolapse
#1
REVIEW
Thierry Le Tourneau, Jean Mérot, Antoine Rimbert, Solena Le Scouarnec, Vincent Probst, Hervé Le Marec, Robert A Levine, Jean-Jacques Schott
Mitral valve prolapse (MVP) is a common condition that affects 2%-3% of the general population. MVP is thought to include syndromic forms such as Marfan syndrome and non-syndromic MVP, which is the most frequent form. Myxomatous degeneration and fibroelastic deficiency (FED) are regarded as two different forms of non-syndromic MVP. While FED is still considered a degenerative disease associated with ageing, frequent familial clustering has been demonstrated for myxomatous MVP. Familial and genetic studies led to the recognition of reduced penetrance and large phenotypic variability, and to the identification of prodromal or atypical forms as a part of the complex spectrum of the disease...
January 19, 2018: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/29350460/three-generation-family-with-novel-contiguous-gene-deletion-on-chromosome-2p22-associated-with-thoracic-aortic-aneurysm-syndrome
#2
Bianca Quiñones-Pérez, Grace E VanNoy, Meghan C Towne, Yiping Shen, Michael N Singh, Pankaj B Agrawal, Sharon E Smith
Latent transforming growth factor binding proteins (LTBP) are a family of extracellular matrix glycoproteins that play an important role in the regulation of transforming growth factor beta (TGF-ß) activation. Dysregulation of the TGF-ß pathway has been implicated in the pathogenesis of inherited disorders predisposing to thoracic aortic aneurysms syndromes (TAAS) including Marfan syndrome (MFS; FBN1) and Loeys-Dietz syndrome (LDS; TGFBR1, TGFBR2, TGFB2, TGFB3, SMAD2, SMAD3). While these syndromes have distinct clinical criteria, they share clinical features including aortic root dilation and musculoskeletal findings...
January 19, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29349428/hybrid-repair-of-a-large-pseudoaneurysm-of-the-proximal-right-subclavian-artery-in-a-marfan-patient
#3
Emma van der Weijde, Jan Albert Vos, Robin H Heijmen
A pseudoaneurysm of the proximal right subclavian artery is rare and most commonly caused by penetrating or blunt trauma. We report a case of a Marfan patient with a large iatrogenic pseudoaneurysm of the right subclavian artery, induced by a puncture lesion during central venous catheter placement for an elective endovascular thoracic aortic procedure. The patient was successfully treated with a hybrid approach, which consisted of endovascular coiling and balloon occlusion of the adjacent vessels, followed by open surgical exploration and uneventful closure of the puncture hole with the use of bovine pericardium-reinforced sutures...
December 2017: Journal of Vascular Surgery Cases and Innovative Techniques
https://www.readbyqxmd.com/read/29336629/pupillary-manifestations-of-marfan-syndrome-from-the-marfan-eye-consortium-of-chicago
#4
Sanket S Shah, Sudhi P Kurup, Hantamalala Ralay Ranaivo, Rebecca B Mets-Halgrimson, Marilyn B Mets
BACKGROUND: Marfan syndrome (MFS) is a genetic disorder that affects multiple organ systems, including the eye. The most common ocular manifestations include ectopia lentis and retinal detachment. The current literature qualitatively cites that MFS patients have miotic or "poorly dilating" pupils. This study was the first to quantitatively assess pupillary function in MFS patients. MATERIALS AND METHODS: 57 eyes from 29 MFS patients, 36 eyes from 18 pediatric age- and gender-matched controls, and 44 eyes from 22 adult age-matched controls were measured in a clinic-based cross sectional study...
January 16, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29320330/cardiovascular-manifestations-and-complications-of-loeys-dietz-syndrome-ct-and-mr-imaging-findings
#5
William W Loughborough, Kishore S Minhas, Jonathan C L Rodrigues, Stephen M Lyen, Helen E Burt, Nathan E Manghat, Marcus J Brooks, Graham Stuart, Mark C K Hamilton
Loeys-Dietz syndrome (LDS) is a recently described genetic connective tissue disorder with a wide spectrum of multisystem involvement. LDS is characterized by rapidly progressive aortic and peripheral arterial aneurysmal disease. LDS and the other inherited aortopathies such as Marfan syndrome have overlapping phenotypic features. However, LDS is characterized by a more aggressive vascular course; patient morbidity and mortality occur at an early age, with complications developing at relatively smaller aortic dimensions...
January 2018: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/29316125/laparoscopic-repair-of-a-complex-morgagni-hernia-in-a-patient-with-marfan-syndrome
#6
Shanmugam S Somasundaram, Travis G Ackermann, Edwin Beenen
No abstract text is available yet for this article.
January 8, 2018: ANZ Journal of Surgery
https://www.readbyqxmd.com/read/29312774/marfan-syndrome-with-pneumothorax-case-report-and-review-of-literatures
#7
Weiming Hao, Yong Fang, Hao Lai, Yaxing Shen, Hao Wang, Miao Lin, Lijie Tan
Marfan syndrome is a multisystem connective tissue disorder of autosomal dominant inheritance, which typically involves manifestations of the cardiovascular, skeletal, and ocular systems. Pulmonary involvement occurs less frequently. We report a case of a 28-year-old woman suffering from hours of sudden onset, progressive shortness of breath and right-sided chest pain. On physical examination, she presented decreased breath sound on the right side of chest, together with severe scoliosis and marfanoid habitus...
December 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/29310780/fibrillins
#8
Heena Kumra, Dieter P Reinhardt
Fibrillins are one of the major components of supramolecular fibrous structures in the extracellular matrix of elastic and nonelastic tissues, termed microfibrils. Microfibrils provide tensile strength in nonelastic tissues and scaffolds for the assembly of tropoelastin in elastic tissues, and act a regulator of growth factor bioavailability and activity in connective tissues. Mutations in fibrillins lead to a variety of connective tissue disorders including Marfan syndrome, stiff skin syndrome, dominant Weill-Marchesani syndrome, and others...
2018: Methods in Cell Biology
https://www.readbyqxmd.com/read/29302938/long-term-results-of-aortic-root-surgery-in-marfan-syndrome-patients-a-single-center-experience
#9
Francesco Nicolo, Francesco Romeo, Antonio Lio, Emanuele Bovio, Antonio Scafuri, Carlo Bassano, Patrizio Polisca, Antonio Pellegrino, Paolo Nardi, Luigi Chiariello, Giovanni Ruvolo
BACKGROUND: The study aim was to compare long-term results of Marfan syndrome (MFS) patients affected by aortic root disease undergoing aortic root replacement with the Bentall or David operation. METHODS: Since 1994, a total of 59 patients has been followed at the authors' Marfan Center, having undergone either a Bentall operation (Bentall group, n = 30) or a David operation (David group, n = 29). RESULTS: No operative mortality was recorded...
July 2017: Journal of Heart Valve Disease
https://www.readbyqxmd.com/read/29300219/the-effect-of-a-non-peptide-angiotensin-ii-type-2-receptor-agonist-compound-21-on-aortic-aneurysm-growth-in-a-mouse-model-of-marfan-syndrome
#10
Peter Verbrugghe, Jelle Verhoeven, Marnick Clijsters, Dominique Vervoort, Jarne Schepens, Bart Meuris, Paul Herijgers
IntroductionAvailable evidence suggests that the renin-angiotensin-aldosterone (RAA) system is a good target for medical intervention on aortic root dilatation in Marfan syndrome (MFS). The effect of Compound 21 (C21), a non-peptide angiotensin II type 2 receptor (AT2R) agonist on aneurysm progression is was tested.MethodsMice with a mutation in fibrillin-1 (Fbn1C1039G/+) and wild-type (WT) mice were treated with vehicle, losartan, C21, enalapril or a combination. Blood pressure, aortic root diameter, and histological slides were evaluated...
January 3, 2018: Journal of Cardiovascular Pharmacology
https://www.readbyqxmd.com/read/29286269/landmark-lecture-perloff-lecture-tribute-to-professor-joseph-kayle-perloff-and-lessons-learned-from-him-aortopathy-in-adults-with-chd
#11
Koichiro Niwa
Marfan syndrome, bicuspid aortic valve, and/or coarctation of the aorta are associated with medial abnormalities of the ascending aortic or para-coarctation aorta. Medial abnormalities in the ascending aorta are prevalent in other type of patients with a variety of CHDs such as single ventricle, persistent truncus arteriosus, transposition of the great arteries, hypoplastic left heart syndrome, and tetralogy of Fallot, encompassing a wide age range and may predispose to dilatation, aneurysm, and rapture necessitating aortic valve and root surgery...
December 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/29246325/ap-1-oligodeoxynucleotides-reduce-aortic-elastolysis-in-a-murine-model-of-marfan-syndrome
#12
Rawa Arif, Marcin Zaradzki, Anca Remes, Philipp Seppelt, Reiner Kunze, Hannes Schröder, Simon Schwill, Stephan M Ensminger, Peter N Robinson, Matthias Karck, Oliver J Müller, Markus Hecker, Andreas H Wagner, Klaus Kallenbach
Marfan syndrome is characterized by high expression of matrix metalloproteinases (MMPs) in aortic smooth muscle cells (AoSMCs) associated with medial elastolysis and aortic root aneurysm. We aimed to reduce aortic elastolysis through decrease of MMP expression with decoy oligodeoxynucleotides (dODNs) neutralizing the transcription factor activating factor-1 (AP-1). AP-1 abundance in nuclear extracts as well as MMP-2 and MMP-9 expression were significantly increased in isolated mAoSMC of mgR/mgR Marfan mice compared to wild-type cells...
December 15, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/29226593/the-face-in-marfan-syndrome-a-3d-quantitative-approach-for-a-better-definition-of-dysmorphic-features
#13
Claudia Dolci, Valentina Pucciarelli, Daniele M Gibelli, Marina Codari, Susan Marelli, Giuliana Trifirò, Alessandro Pini, Chiarella Sforza
Marfan syndrome (MFS) is a rare hereditable disorder of connective tissue caused by mutations in the fibrillin-1 gene FBN1. Timely diagnosis of MFS is essential to prevent life-threatening cardiovascular complications; nevertheless it can be difficult owing to the phenotypic variability of the syndrome. No clear quantitative definition of facial abnormalities associated with MFS is available. The aim of this study was to improve the definition of the facial phenotype associated with MFS and to verify the usefulness of a 3D noninvasive quantitative approach for its early recognition...
December 11, 2017: Clinical Anatomy
https://www.readbyqxmd.com/read/29221734/aortic-annulus-does-not-dilate-over-time-after-aortic-root-remodeling-with-or-without-annuloplasty
#14
Takashi Kunihara, Satoshi Arimura, Fumihiro Sata, Christian Giebels, Ulrich Schneider, Hans-Joachim Schäfers
OBJECTIVE: The lack of annular stabilization is the drawback of aortic root remodeling, and recently the addition of annuloplasty has been proposed. Limited data, however, exist on late annular size after remodeling. We studied annular size over time. METHODS: In 241 patients (53 ± 16 years) annular size was determined preoperatively (T0), before discharge (T1), and at least 2 years after remodeling (T2, 54 ± 27 months) with (n = 52) or without external suture annuloplasty...
December 5, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29210860/aortic-dilatation-in-marfan-syndrome-role-of-arterial-stiffness-and-fibrillin-1-variants
#15
Paolo Salvi, Andrea Grillo, Susan Marelli, Lan Gao, Lucia Salvi, Maurizio Viecca, Anna Maria Di Blasio, Renzo Carretta, Alessandro Pini, Gianfranco Parati
OBJECTIVE: Marfan syndrome (MFS) is an autosomal dominant genetic disorder characterized by aortic root dilation and dissection and an abnormal fibrillin-1 synthesis. In this observational study, we evaluated aortic stiffness in MFS and its association with ascending aorta diameters and fibrillin-1 genotype. METHODS: A total of 116 Marfan adult patients without history of cardiovascular surgery, and 144 age, sex, blood pressure and heart rate matched controls were enrolled...
January 2018: Journal of Hypertension
https://www.readbyqxmd.com/read/29209507/routinely-collected-health-data-to-study-inherited-heart-disease-a-systematic-review-2000-2016
#16
Bianca Blanch, Joanna Sweeting, Christopher Semsarian, Jodie Ingles
Objective: Our understanding of inherited heart disease is predominantly based on retrospective specialised clinic cohorts, which have inherent selection bias. Population-based routinely collected data can provide insight into unbiased, large-scale patterns of treatment and care but may be limited by the granularity of clinical information available. We sought to synthesise the global literature to determine whether we can identify patients with inherited heart diseases using routinely collected health data...
2017: Open Heart
https://www.readbyqxmd.com/read/29207985/long-term-follow-up-after-scleral-lens-fixation-in-patients-with-marfan-syndrome
#17
Jan Luebke, Thomas Reinhard, Hansjuergen Agostini, Daniel Boehringer, Philipp Eberwein
BACKGROUND: The dislocation of the crystalline lens is a common finding in patients with Marfan syndrome (MFS). Scleral intraocular lens (IOL) fixation is an accepted treatment method of this complication. To now, no long-term data on scleral IOL fixation in MFS exist. METHODS: We present a retrospective study of 27 eyes of 17 MFS patients that underwent scleral lens fixation at our clinic between 1999 and 2012. These patients are compared to an age- and surgeon-matched group of 31 eyes of 27 patients who underwent the same procedure for reasons other than MFS...
December 6, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/29198631/elective-david-i-procedure-has-excellent-long-term-results-20-year-single-center-experience
#18
Malakh L Shrestha, Erik Beckmann, Firas Abd Alhadi, Heike Krueger, Fiona Meyer-Bockenkamp, Sebastian Bertele, Nurbol Koigeldiyev, Tim Kaufeld, Felix Fleissner, Wilhelm Korte, Jan Schmitto, Serghei Cebotari, Wolfgang Harringer, Axel Haverich, Andreas Martens
BACKGROUND: We present our results after elective, isolated David I procedures over the past 20 years. METHODS: Between 1993 and 2015, 197 patients (mean age 46 ± 17 years, 73% men) underwent isolated aortic valve reimplantation using straight tube grafts (David I procedure). Sixty patients (31%) had Marfan syndrome, and 24 (12%) had a bicuspid aortic valve. Twenty-four patients (12%) were operated through upper mini-sternotomy. RESULTS: There were no perioperative deaths...
December 1, 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/29198452/betaglycan-tgfbr3-up-regulation-correlates-with-increased-tgf-%C3%AE-signaling-in-marfan-patient-fibroblasts-in-vitro
#19
Menno Evert Groeneveld, Natalija Bogunovic, René John Philip Musters, Geert Jan Tangelder, Gerard Pals, Willem Wisselink, Dimitra Micha, Kak Khee Yeung
BACKGROUND: Marfan syndrome (MFS), a congenital connective tissue disorder leading to aortic aneurysm development, is caused by fibrillin-1 (FBN1) gene mutations. Transforming growth factor beta (TGF-β) might play a role in the pathogenesis. It is still a matter of discussion if and how TGF-β up-regulates the intracellular downstream pathway, although TGF-β receptor 3 (TGFBR3 or Betaglycan) is thought to be involved. We aimed to elucidate the role of TGFBR3 protein in TGF-β signaling in Marfan patients...
November 4, 2017: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
https://www.readbyqxmd.com/read/29198406/comparison-of-the-effect-of-aliskiren-versus-negative-controls-on-aortic-stiffness-in-patients-with-marfan-syndrome-under-treatment-with-atenolol
#20
Ji-Won Hwang, Eun Kyoung Kim, Shin Yi Jang, Tae-Young Chung, Chang-Seok Ki, Kiick Sung, Sung Mok Kim, Joonghyun Ahn, Keumhee Carriere, Yeon Hyeon Choe, Sung-A Chang, Duk-Kyung Kim
INTRODUCTION AND OBJECTIVES: The aim of this study was to evaluate the effect of aliskiren on aortic stiffness in patients with Marfan syndrome (MS). METHODS: Twenty-eight MS patients (mean age ± standard deviation: 32.6 ± 10.6 years) were recruited from November 2009 to October 2014. All patients were receiving atenolol as standard beta-blocker therapy. A prospective randomization process was performed to assign participants to either aliskiren treatment (150-300mg orally per day) or no aliskiren treatment (negative control) in an open-label design...
November 29, 2017: Revista Española de Cardiología
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