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Marfan pregnancy

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https://www.readbyqxmd.com/read/28708846/sex-pregnancy-and-aortic-disease-in-marfan-syndrome
#1
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/28691228/intra-and-post-partum-acute-aortic-dissection-stanford-type-b-report-of-two-cases
#2
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/28650953/de-novo-paternal-fbn1-mutation-detected-in-embryos-before-implantation
#3
Shuling Wang, Ziru Niu, Hui Wang, Minyue Ma, Wei Zhang, Shu Fang Wang, Jun Wang, Hong Yan, Yifan Liu, Na Duan, Xiandong Zhang, Yuanqing Yao
BACKGROUND Marfan syndrome (MFS) is an autosomal dominant disease caused by mutations in the Fibrillin (FBN)1 gene and characterized by disorders in the cardiovascular, skeletal, and visual systems. The diversity of mutations and phenotypic heterogeneity of MFS make prenatal molecular diagnoses difficult. In this study, we used pre-implantation genetic diagnosis (PGD) to identify the pathogenic mutation in a male patient with MFS and to determine whether his offspring would be free of the disease. MATERIAL AND METHODS The history and pedigree of the proband were analyzed...
June 26, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28648010/-experience-of-sun-s-procedure-for-chronic-type-b-dissection-with-aortic-arch-involvement
#4
R D Qi, J M Zhu, L Chen, C N Li, Z Y Qiao, L J Cheng, Y P Ge, H O Hu, Y Xia, X Y Xing, T Zheng, Y M Liu, L Z Sun
Objective: To study the surgical treatment of chronic type B dissection with aortic arch involvement using Sun's procedure. Methods: Between February 2009 and December 2015, 29 patients [20 males, 9 females, with a mean age of (41±12) years, range 24-64 years] with type B dissection with aortic arch involvement underwent Sun's procedure. Sixteen patient had a history of hypertension. Marfan syndrome was observed in 9 cases, coronary artery disease in 3 cases, mitral regurgitation in 3 patients, cerebrovascular disease in one patient...
June 27, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/28622940/feasibility-of-performing-non-contrast-magnetic-resonance-angiography-in-pregnant-subjects-with-familial-aortopathies
#5
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/28616354/comparing-american-european-and-asian-practice-guidelines-for-aortic-diseases
#6
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/28611929/epidural-anesthesia-for-cesarean-section-in-a-pregnant-woman-with-marfan-syndrome-and-dural-ectasia
#7
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
#8
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/28606654/management-of-marfan-syndrome-during-pregnancy-a-real-world-experience-from-a-joint-cardiac-obstetric-service
#9
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))...
September 15, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28600893/pregnancy-marfan-syndrome-and-type-b-aortic-dissection
#10
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/28482718/pregnancy-and-mesenchimal-dysplasias-marfan-syndrome-ehlers-danlos-syndrome-hereditary-hemorrhagic-telangiectasia
#11
L S Radetskaya, A D Makatsariya, V O Bitsadze, J K Khizroeva
No abstract text is available yet for this article.
May 9, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28371362/pregnancy-related-acute-aortic-dissection-in-marfan-syndrome-a-review-of-the-literature
#12
REVIEW
Katherine Smith, Bernard Gros
A well-established association exists between acute aortic dissection and pregnancy, particularly in women with Marfan syndrome. However, there is debate regarding appropriate management guidelines. In particular, there are differing opinions regarding when prophylactic aortic root repair should be recommended as well as the efficacy of beta blockers in this clinical scenario. The current study evaluated 10 years of published literature (2005-2015) in the PubMed/Medline database. Fifty articles, describing 72 cases of women who presented with aortic dissection in the antepartum or postpartum period were identified...
April 2, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28294527/peripartum-type-b-aortic-dissection-in-patients-with-marfan-syndrome-who-underwent-aortic-root-replacement-a-case-series-study
#13
S Sayama, N Takeda, T Iriyama, R Inuzuka, S Maemura, D Fujita, H Yamauchi, K Nawata, M Bougaki, H Hyodo, R Shitara, T Nakayama, A Komatsu, T Nagamatsu, Y Osuga, T Fujii
OBJECTIVE: To investigate pregnancy outcomes, especially the risk of pregnancy-related aortic dissection (AD), in patients with Marfan syndrome (MFS) after prophylactic aortic root replacement (ARR). DESIGN: Retrospective case series study. SETTING: Tertiary perinatal care centre at a university hospital. POPULATION: Pregnant women fulfilling the revised Ghent nosology (2010) criteria for MFS who were managed at our institute...
March 11, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/27843325/the-role-of-the-multidisciplinary-health-care-team-in-the-management-of-patients-with-marfan-syndrome
#14
REVIEW
Yskert von Kodolitsch, Meike Rybczynski, Marina Vogler, Thomas S Mir, Helke Schüler, Kerstin Kutsche, Georg Rosenberger, Christian Detter, Alexander M Bernhardt, Axel Larena-Avellaneda, Tilo Kölbel, E Sebastian Debus, Malte Schroeder, Stephan J Linke, Bettina Fuisting, Barbara Napp, Anna Lena Kammal, Klaus Püschel, Peter Bannas, Boris A Hoffmann, Nele Gessler, Eva Vahle-Hinz, Bärbel Kahl-Nieke, Götz Thomalla, Christina Weiler-Normann, Gunda Ohm, Stefan Neumann, Dieter Benninghoven, Stefan Blankenberg, Reed E Pyeritz
Marfan syndrome (MFS) is a rare, severe, chronic, life-threatening disease with multiorgan involvement that requires optimal multidisciplinary care to normalize both prognosis and quality of life. In this article, each key team member of all the medical disciplines of a multidisciplinary health care team at the Hamburg Marfan center gives a personal account of his or her contribution in the management of patients with MFS. The authors show how, with the support of health care managers, key team members organize themselves in an organizational structure to create a common meaning, to maximize therapeutic success for patients with MFS...
2016: Journal of Multidisciplinary Healthcare
https://www.readbyqxmd.com/read/27825688/aortic-dissection-in-pregnancy-management-strategy-and-outcomes
#15
Jun-Ming Zhu, Wei-Guo Ma, Sven Peterss, Long-Fei Wang, Zhi-Yu Qiao, Bulat A Ziganshin, Jun Zheng, Yong-Min Liu, John A Elefteriades, Li-Zhong Sun
BACKGROUND: Aortic dissection in pregnancy is a rare but lethal catastrophe. Clinical experiences are limited. We report our experience in 25 patients focusing on etiology, management strategies, and outcomes. METHODS: Between June 1998 and February 2015, we treated 25 pregnant women (mean age, 31.6 ± 4.7 years) in whom aortic dissection developed at a mean of 28 ± 10 gestational weeks (GWs). Type A aortic dissection (TAAD) was present in 20 (80%) and type B (TBAD) in 5 (20%)...
April 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/27788933/risk-of-aortic-dissection-in-pregnant-patients-with-the-marfan-syndrome
#16
Rafael Kuperstein, Tal Cahan, Rakefet Yoeli-Ullman, Sagit Ben Zekry, Amihay Shinfeld, Michal J Simchen
Patients with Marfan syndrome (MS) face a high risk of aortic dissection during pregnancy. A dilated aortic root (>40 to 45 mm) is considered a relative contraindication for pregnancy. We investigated the risk for aortic dissection and pregnancy outcome in patients with MS. Women with MS who attended our cardiology high-risk pregnancy clinic from 2006 to 2015 were followed clinically and with serial echocardiograms by a multidisciplinary team. Beta blockers were offered and titrated by blood pressure and heart rate...
January 1, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/27695168/epidural-analgesia-complicated-by-dural-ectasia-in-the-marfan-syndrome
#17
Benjamin B Vacula, Chelsea Gray, Michael P Hofkamp, Patrick T Noonan, Russell K McAllister, Kimberly A Pilkinton, Zhiying Diao
Patients with the Marfan syndrome are considered to be high risk during pregnancy and warrant a complete multidisciplinary evaluation. One goal is to minimize hemodynamic fluctuations during labor since hypertensive episodes may result in aortic dissection or rupture. Although they may prevent these complications, neuraxial techniques may be complicated by dural ectasia. The case of a parturient with the Marfan syndrome and mild dural ectasia is presented. During attempted labor epidural placement, unintentional dural puncture occurred...
October 2016: Proceedings of the Baylor University Medical Center
https://www.readbyqxmd.com/read/27515814/aortic-complications-associated-with-pregnancy-in-marfan-syndrome-the-nhlbi-national-registry-of-genetically-triggered-thoracic-aortic-aneurysms-and-cardiovascular-conditions-gentac
#18
Mary J Roman, Norma L Pugh, Tabitha P Hendershot, Richard B Devereux, Hal Dietz, Kathryn Holmes, Kim A Eagle, Scott A LeMaire, Dianna M Milewicz, Shaine A Morris, Reed E Pyeritz, William J Ravekes, Ralph V Shohet, Michael Silberbach
BACKGROUND: The risk of aortic complications associated with pregnancy in women with Marfan syndrome (MFS) is not fully understood. METHODS AND RESULTS: MFS women participating in the large National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) were evaluated. Among 184 women with MFS in whom pregnancy information was available, 94 (51%) had a total of 227 pregnancies. Among the women with pregnancies, 10 (10...
August 11, 2016: Journal of the American Heart Association
https://www.readbyqxmd.com/read/26903455/genetic-testing-in-marfan-syndrome
#19
REVIEW
Anne H Child, Jose A Aragon-Martin, Karen Sage
Genetic testing is aiding rapid diagnosis of Marfan syndrome as a basis for management of eye, heart and skeletal disease. The affected patient's mutation can be used as a basis for prenatal or postnatal diagnosis of offspring. Preimplantation genetic diagnosis, the technique of choice, can ensure an unaffected pregnancy.
January 2016: British Journal of Hospital Medicine
https://www.readbyqxmd.com/read/26885307/stanford-type-a-aortic-dissection-in-a-patient-with-marfan-syndrome-during-pregnancy-a-case-report
#20
Won Ho Kim, Jisue Bae, Seung Won Choi, Jong-Hwan Lee, Chung Su Kim, Hyun Sung Cho, Sangmin M Lee
Aortic dissection during pregnancy is a devastating event for both the pregnant woman and the baby. We report a case of acute aortic dissection (Stanford type A) in a pregnant woman with Marfan syndrome at the 29(th) week of gestation. She underwent a cesarean section followed by an ascending aorta and total arch replacement with cardiopulmonary bypass, without a prior sternotomy. The hemodynamic parameters were kept stable during the cesarean section by using inotropes and vasopressors under transesophageal echocardiography monitoring...
February 2016: Korean Journal of Anesthesiology
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