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https://www.readbyqxmd.com/read/28622940/feasibility-of-performing-non-contrast-magnetic-resonance-angiography-in-pregnant-subjects-with-familial-aortopathies
#1
William E Moody, Luke Pickup, Emma Plunkett, John Fryearson, Paul F Clift, R Katie Morris, Peter J Thompson, Sara Thorne, Lucy E Hudsmith
BACKGROUND: Pregnancy is associated with an increased risk of aortic pathology. We sought to assess the feasibility of performing non-contrast 3D steady-state free-precession (SSFP) magnetic resonance angiography (MRA) in pregnant subjects with inherited aortopathy. METHODS: Fifteen pregnant subjects (age 27±4yr) with positive genotyping for aortopathy (Marfan, Loeys-Dietz, Ehlers-Danlos) and/or a family history of aortic dissection underwent non-contrast 3D-SSFP MRA at 1...
June 2, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28616536/nt-probnp-and-diastolic-left-ventricular-function-in-patients-with-marfan-syndrome
#2
Petra Gehle, Peter N Robinson, Frank Heinzel, Frank Edelmann, Mustafa Yigitbasi, Felix Berger, Volkmar Falk, Burkert Pieske, Ernst Wellnhofer
AIMS: Subclinical diastolic dysfuntion in patients with preclinical heart failure with preserved ejection fraction (HFpEF) has been demonstrated in patients with Marfan syndrome (MFS). We investigated the relationship between diastolic dysfunction and NT-proBNP levels in patients with MFS. METHODS AND RESULTS: NT-proBNP, C-reactive protein (CRP) and diastolic function were assessed in 217 patients with MFS (31 ± 16 y, 110 f. and in 339 patients referred for suspected MFS in whom the diagnosis was ruled out according to the Ghent nosology (30 ± 15 y, 154 f)...
September 2016: IJC Heart & Vasculature
https://www.readbyqxmd.com/read/28616354/comparing-american-european-and-asian-practice-guidelines-for-aortic-diseases
#3
Jose Rozado, Maria Martin, Isaac Pascual, Daniel Hernandez-Vaquero, Cesar Moris
The aortic disease comprises a group of different pathologies of high prevalence, seriousness and ever changing by the medical and surgical investigations. Therefore cardiovascular scientific societies in USA, Europe and Asia have created Task Force on practice guidelines (PG) to develop, update and revise PG for aortic diseases. These documents issue recommendations on the diagnosis and management of different aortic diseases. The three societies agree on the recommendations about diagnostic tests and on the value of computed tomography and magnetic resonance as the main tools for the diagnosis and follow-up of aortic disease...
May 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28616337/strategies-to-prevent-aortic-complications-in-marfan-syndrome
#4
EDITORIAL
Lucio Sartor, Alberto Forteza
No abstract text is available yet for this article.
May 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28611929/epidural-anesthesia-for-cesarean-section-in-a-pregnant-woman-with-marfan-syndrome-and-dural-ectasia
#5
Franco Pepe, Mariagrazia Stracquadanio, Francesco De Luca, Agata Privitera, Elisabetta Sanalitro, Puccio Scarpinati
Marfan syndrome (MFS) is a genetic disorder of connective tissue, characterized by variable clinical features and multisystem complications. The anesthetic management during delivery is debated. Regional anesthesia has been used with success during cesarean delivery, but in some MFS patients there is a probability of erratic and inadequate spread of intrathecal local anesthetics as a result of dural ectasia. In these cases, epidural anesthesia may be a particularly useful technique during cesarean delivery because it allows an adequate spread and action of local anesthetic with a controlled onset of anesthesia, analgesia, and sympathetic block and a low risk of perioperative complications...
2017: Case Reports in Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28609711/birth-characteristics-of-women-with-marfan-syndrome-obstetric-and-neonatal-outcomes-of-their-pregnancies-a-nationwide-cohort-and-case-control-study
#6
Kristina Kernell, Gunilla Sydsjö, Marie Bladh, Ann Josefsson
OBJECTIVE: The aim was to investigate birth characteristics, obstetric and neonatal outcomes of the first childbirth in women with Marfan syndrome by use of Swedish national registers since pregnancy-related outcomes in women with Marfan syndrome have only been sparsely investigated. STUDY DESIGN: In this national population-based cohort study and matched case-control study of Swedish women born 1973-1993, women with Marfan syndrome (n=273) were compared to women without the condition (n=1 017 265)...
June 1, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28607545/the-genetics-of-aortopathies-in-clinical-cardiology
#7
REVIEW
Amit Goyal, Ali R Keramati, Matthew J Czarny, Jon R Resar, Arya Mani
Aortopathies pose a significant healthcare burden due to excess early mortality, increasing incidence, and underdiagnosis. Understanding the underlying genetic causes, early diagnosis, timely surveillance, prophylactic repair, and family screening are keys to addressing these diseases. Next-generation sequencing continues to expand our understanding of the genetic causes of heritable aortopathies, rapidly clarifying their underlying molecular pathophysiology and suggesting new potential therapeutic targets...
2017: Clinical Medicine Insights. Cardiology
https://www.readbyqxmd.com/read/28606654/management-of-marfan-syndrome-during-pregnancy-a-real-world-experience-from-a-joint-cardiac-obstetric-service
#8
Joanna C E-S Lim, Matthew Cauldwell, Roshni R Patel, Anselm Uebing, Ruth A Curry, Mark R Johnson, Michael A Gatzoulis, Lorna Swan
BACKGROUND: Pregnancy in Marfan Syndrome (MFS) is associated with increased maternal risk of cardiovascular events. Given the maternal and genetic risks, pre-conception counselling is essential to facilitate informed choices. Multidisciplinary antenatal care with regular imaging is mandatory and best delivered through a Joint Cardiac Obstetric Service (JCOS). The aim of this study was to compare the care delivered in a JCOS against recognised international standards (European Society of Cardiology (ESC))...
May 22, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28605402/sparse-redundancy-analysis-of-high-dimensional-genetic-and-genomic-data
#9
Attila Csala, Frans P J M Voorbraak, Aeilko H Zwinderman, Michel H Hof
Motivation: Recent technological developments have enabled the possibility of genetic and genomic integrated data analysis approaches, where multiple omics data sets from various biological levels are combined and used to describe (disease) phenotypic variations. The main goal is to explain and ultimately predict phenotypic variations by understanding their genetic basis and the interaction of the associated genetic factors. Therefore, understanding the underlying geneticmechanisms of phenotypic variations is an ever increasing research interest in biomedical sciences...
June 12, 2017: Bioinformatics
https://www.readbyqxmd.com/read/28602317/new-capsular-tension-segment-with-2-point-fixation-for-zonular-weakness
#10
Malkit K Singh, Balamurali K Ambati, Alan S Crandall
We describe clinical applications and surgical techniques for a new type of capsular tension segment (CTS) for use during cataract surgery. The Ambati CTS is distinguished from other CTS devices by having 2 eyelets close to each other, which allows it to distribute tension to 2 points, avoiding too much stress at a single point on the anterior capsulotomy, which prevents peaking of the capsulorhexis, and potentially reducing the risk for anterior capsule tear. Two of these CTS devices could possibly be used to provide 4-point fixation of a capsular bag in eyes with near-complete zonular instability...
May 2017: Journal of Cataract and Refractive Surgery
https://www.readbyqxmd.com/read/28600893/pregnancy-marfan-syndrome-and-type-b-aortic-dissection
#11
Mark R Johnson, Jolien W Roos Hesselink
Sayama et al describe the outcome of 17 pregnancies in 15 women with a clinical or genetic diagnosis of Marfan syndrome (MS) as per the revised Ghent criteria (Dietz et al, J Med Genet. 2010;47;476-85). Five patients (5 pregnancies) had undergone aortic root replacement prior to pregnancy and 10 (12 pregnancies) had not. A type B aortic dissection AD(B) occurred in 3 of the 5 with prior aortic root replacement (ARR) and 1 of the 10, without. This case series reminds us of critically important points in the management of pregnant women with MS who have undergone ARR...
June 10, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28600389/marfan-syndrome-always-evolving
#12
EDITORIAL
Guillaume Jondeau, Catherine Boileau, Olivier Milleron
No abstract text is available yet for this article.
June 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28600386/associations-of-age-and-sex-with-marfan-phenotype-the-national-heart-lung-and-blood-institute-gentac-genetically-triggered-thoracic-aortic-aneurysms-and-cardiovascular-conditions-registry
#13
Mary J Roman, Richard B Devereux, Liliana R Preiss, Federico M Asch, Kim A Eagle, Kathryn W Holmes, Scott A LeMaire, Cheryl L Maslen, Dianna M Milewicz, Shaine A Morris, Siddharth K Prakash, Reed E Pyeritz, William J Ravekes, Ralph V Shohet, Howard K Song, Jonathan W Weinsaft
BACKGROUND: The associations of age and sex with phenotypic features of Marfan syndrome have not been systematically examined in a large cohort of both children and adults. METHODS AND RESULTS: We evaluated 789 Marfan patients enrolled in the National Heart, Lung, and Blood Institute GenTAC (Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions) Registry (53% male; mean age 31 [range: 1-86 years]). Females aged ≥15 and males aged ≥16 years were considered adults based on average age of skeletal maturity...
June 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28596305/genotype-phenotype-correlations-in-marfan-syndrome
#14
EDITORIAL
Benjamin J Landis, Gruschen R Veldtman, Stephanie M Ware
No abstract text is available yet for this article.
June 8, 2017: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/28595699/better-understanding-quality-of-life-for-those-living-with-marfan
#15
EDITORIAL
John R Pepper
No abstract text is available yet for this article.
June 13, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28595698/marfan-syndrome-and-quality-of-life-in-the-gentac-registry
#16
Judith Z Goldfinger, Liliana R Preiss, Richard B Devereux, Mary J Roman, Tabitha P Hendershot, Barbara L Kroner, Kim A Eagle
BACKGROUND: Previous small studies suggested reduced quality of life (QOL) for people with Marfan syndrome (MFS) compared with those without MFS. The national registry of GenTAC (Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions) is a longitudinal observational cohort study of patients with conditions that predispose to thoracic aortic aneurysms and dissections, including MFS. At the time of registry enrollment, GenTAC study participants are asked to complete questionnaires about demographics, medical history, health habits, and QOL...
June 13, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28588436/novel-marfan-syndrome-associated-mutation-in-the-fbn1-gene-caused-by-parental-mosaicism-and-leading-to-abnormal-limb-patterning
#17
Efrén Martínez-Quintana, Noemí Caballero-Sánchez, Fayna Rodríguez-González, Paloma Garay-Sánchez, Antonio Tugores
Marfan syndrome is an autosomal dominant disorder of the connective tissue caused by mutations in the fibrillin-1 (FBN1) gene. Mutations affecting cysteine residues within the epidermal growith factor-like calcium-binding domains (EGF_CA) of FBN1 are associated with Marfan syndrome features and, especially, with ectopia lentis. We report a novel substitution, affecting the first cysteine of an EGF_CA-binding module encoded by exon 63 of FBN1 (C2571Y), in a patient presenting with typical Marfan syndrome features but without ectopia lentis...
May 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28584496/marfan-syndrome
#18
T Sivasankari, Philips Mathew, Ravi David Austin, Sakthi Devi
Marfan syndrome (MFS) is the autosomal dominant-inherited multisystem connective-tissue disorder, with a reported incidence of 1 in 10,000 individuals and equal distribution in both genders. The main clinical manifestation of this disorder consists of an exaggerated length of the upper and lower limbs, hyperlaxity, scoliosis, alterations in the cardiovascular and pulmonary systems, and atypical bone overgrowth. Orofacial manifestations such as high-arched palate, hypodontia, long narrow teeth, bifid uvula, mandibular prognathism, and temporomandibular disorders are also common...
January 2017: Journal of Pharmacy & Bioallied Sciences
https://www.readbyqxmd.com/read/28580713/mitral-valve-prolapse-and-marfan-syndrome
#19
REVIEW
Amitabh Thacoor
Marfan syndrome is a multisystemic genetic condition affecting connective tissue. It carries a reduced life expectancy, largely dependent on cardiovascular complications. More common cardiac manifestations such as aortic dissection and aortic valve incompetence have been widely documented in the literature. Mitral valve prolapse (MVP), however, has remained poorly documented. This article aims at exploring the existing literature on the pathophysiology and diagnosis of MVP in patients with Marfan syndrome, defining its current management and outlining the future developments surrounding it...
June 5, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28579256/marfan-syndrome-and-loeys-dietz-syndrome-in-children-a-multidisciplinary-team-experience
#20
Alejandra Manchola-Linero, Ferran Gran Ipiña, Gisela Teixidó-Tura, Fermina López Grondona, Ferran Rosés Noguer, Anna Sabaté-Rotés
No abstract text is available yet for this article.
June 1, 2017: Revista Española de Cardiología
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