keyword
MENU ▼
Read by QxMD icon Read
search

Marfan syndrome

keyword
https://www.readbyqxmd.com/read/29221734/aortic-annulus-does-not-dilate-over-time-after-aortic-root-remodeling-with-or-without-annuloplasty
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
https://www.readbyqxmd.com/read/29187826/differences-in-the-thoracic-aorta-by-region-and-sex-in-a-murine-model-of-marfan-syndrome
#8
Francesc Jiménez-Altayó, Anna-Maria Siegert, Fabio Bonorino, Thayna Meirelles, Laura Barberà, Ana P Dantas, Elisabet Vila, Gustavo Egea
Marfan syndrome (MFS) is a hereditary disorder of the connective tissue that causes life-threatening aortic aneurysm, which initiates at the aortic root and can progress into the ascending portion. However, analysis of ascending aorta reactivity in animal models of MFS has remained elusive. Epidemiologic evidence suggests that although MFS is equally prevalent in men and women, men are at a higher risk of aortic complications than non-pregnant women. Nevertheless, there is no experimental evidence to support this hypothesis...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/29187676/three-channeled-aortic-dissection-in-a-patient-without-marfan-syndrome
#9
Yoshie Inoue Arita, Koichi Akutsu, Takeshi Yamamoto, Yusuke Hosokawa, Masahiro Fujii, Takashi Nitta, Wataru Shimizu
A 64-year-old man was admitted for evaluation of back pain. He did not have a Marfan syndrome (MFS)-like appearance, and had a history of a type B aortic dissection and total arch replacement. A connective tissue disorder had been suspected because of the histologic findings of the resected aortic wall. On admission, a computed tomography (CT) scan demonstrated a three-channeled aortic dissection (3ch-AD) measuring 63 mm in diameter. We planned to perform elective surgery during his hospitalization. On the fourth hospital day, he complained of severe back pain, and enhanced CT scan revealed an aortic rupture...
November 29, 2017: Annals of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29184616/hybrid-completion-of-aortic-repair-after-type-a-aortic-dissection-in-a-patient-with-marfan-s-syndrome
#10
Terri-Ann Teisha Russell, James Shue-Min Yeh, Antonios Kourliouros, Christoph A Nienaber
Medicine and engineering are in collaboration to assist in the tackling of daunting surgical techniques which are associated with high rates of morbidity and mortality, in exchange for minimally invasive approaches with lower procedural risk. Endovascular procedures in general have already reduced the risk of surgery by limiting the extent of open surgery and often replacing it with purely percutaneous or hybrid procedures. Here, we describe a patient who had complex staged surgery with open repair of a proximal portion of a type A aortic dissection followed by a staged endovascular reconstruction of the arch and descending aorta by means of a fenestrated stent-graft to secure the left subclavian artery and the posterior cerebral circulation...
July 2017: Heart Views: the Official Journal of the Gulf Heart Association
https://www.readbyqxmd.com/read/29180908/chronic-low-grade-postoperative-endophthalmitis-in-a-child-with-marfan-syndrome
#11
Darakhshanda Khurram Butt, Robert A Scott, Muralidharan R Upendran
This case report describes a 9-year-old male who presented to the emergency department with 2 days' history of left painful red eye. On initial examination, his outside medical records indicated that he had bilateral subluxated lenses and had undergone left eye lensectomy with glued intrascleral fixation of an intraocular lens 8 weeks earlier. Vision in left eye was poor from first postoperative day but with no undue pain or redness, and poor vision was attributed to possible vitreous bleed. Subsequent postoperative course was uneventful...
2017: International Medical Case Reports Journal
https://www.readbyqxmd.com/read/29176310/urinary-disorders-and-marfan-syndrome-a-series-of-4-cases
#12
Claire Hentzen, Nicolas Turmel, Camille Chesnel, Frederique Le Breton, Samer Sheikh Ismael, Gérard Amarenco
Marfan syndrome is a genetic disease responsible for causing cardiovascular, eye and musculoskeletal damages. Urinary disorders are not common. We present 4 cases of chronic urinary tract symptoms, with 2 different pathophysiological processes. Three patients presented with spinal cord infarct following aortic dissection surgery. They were affected by an overactive bladder with detrusor overactivity and detrusor-sphincter dyssynergia. One patient complained of voiding dysfunction, possibly related to dural ectasia...
November 24, 2017: Urologia Internationalis
https://www.readbyqxmd.com/read/29174139/altered-tgf-%C3%AE-endocytic-trafficking-contributes-to-the-increased-signaling-in-marfan-syndrome
#13
Anna-Maria Siegert, Carla Serra-Peinado, Enric Gutiérrez-Martínez, Fernando Rodríguez-Pascual, Isabel Fabregat, Gustavo Egea
The main cardiovascular alteration in Marfan syndrome (MFS) is the formation of aortic aneurysms in which augmented TGF-β signaling is reported. However, the primary role of TGF-β signaling as a molecular link between the genetic mutation of fibrillin-1 and disease onset is controversial. The compartmentalization of TGF-β endocytic trafficking has been shown to determine a signaling response in which clathrin-dependent internalization leads to TGF-β signal propagation, and caveolin-1 (CAV-1) associated internalization leads to signal abrogation...
November 23, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29146755/ocular-findings-in-loeys-dietz-syndrome
#14
Catharina Busch, Robert Voitl, Barbara Goergen, Tomasz Zemojtel, Petra Gehle, Daniel J Salchow
BACKGROUND: Loeys-Dietz syndrome (LDS), an autosomal-dominant connective tissue disorder, is characterised by systemic manifestations including arterial aneurysm and craniofacial dysmorphologies. Although ocular involvement in LDS has been reported, detailed information on those manifestations is lacking. METHODS: Retrospective chart review of patients with diagnosed LDS and comparison with age-matched control patients. RESULTS: Mean age was 37...
November 16, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/29142803/unprovoked-pulmonary-embolism-in-a-young-patient-with-marfan-syndrome
#15
Stella Pak, Andrew Kilgore, Rosanne Thornhill, Kyle Rako, Ali Meier, Gavriella Pora, Jillian M Costello, Christine Dee
Marfan syndrome is a rare connective tissue disorder with a prevalence of approximately 2 to 3 per 10,000 individuals. There have been some reports of young patients with Marfan syndrome developing arteriovenous thromboembolism. These events were unprovoked and recurrent. Owing to its rarity, hypercoagulopathy and other metabolic derangement in patients with Marfan syndrome remains largely unknown. Herein, we report a case of a young man with Marfan syndrome who had myocardial infarction and pulmonary embolism...
September 5, 2017: Curēus
https://www.readbyqxmd.com/read/29141531/statins-in-aortic-disease
#16
Vicky Tsigkou, Gerasimos Siasos, Eva Mpletsa, Maria-Paraskevi Panoilia, Aggeliki Papastavrou, Giorgos Kokosias, Evangelos Oikonomou, Marina Zaromitidou, Manolis Vavuranakis, Christodoulos Stefanadis, Dimitris Tousoulis
BACKGROUND: Numerous studies indicate that statins have also multiple beneficial actions (known as 'pleiotropic actions') on cardiovascular system through the improvement of endothelial dysfunction, inflammation, oxidative stress, increased arterial thrombosis, and the stabilization of the atherosclerotic plaque. Aortic disease primarily consists of aortic valve stenosis, aortic valve regurgitation, aneurysm disease, and genetic disorders such as Marfan syndrome, bicuspid aortic valve and aortic coarctation...
November 14, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/29114001/impaired-central-pulsatile-hemodynamics-in-children-and-adolescents-with-marfan-syndrome
#17
Andrea Grillo, Paolo Salvi, Susan Marelli, Lan Gao, Lucia Salvi, Andrea Faini, Giuliana Trifirò, Renzo Carretta, Alessandro Pini, Gianfranco Parati
BACKGROUND: Marfan syndrome is characterized by aortic root dilation, beginning in childhood. Data about aortic pulsatile hemodynamics and stiffness in pediatric age are currently lacking. METHODS AND RESULTS: In 51 young patients with Marfan syndrome (12.0±3.3 years), carotid tonometry was performed for the measurement of central pulse pressure, pulse pressure amplification, and aortic stiffness (carotid-femoral pulse wave velocity). Patients underwent an echocardiogram at baseline and at 1 year follow-up and a genetic evaluation...
November 7, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29110304/beta-blockers-for-preventing-aortic-dissection-in-marfan-syndrome
#18
REVIEW
Hyun-Kyoung Koo, Kendra Ak Lawrence, Vijaya M Musini
BACKGROUND: Marfan syndrome is a hereditary disorder affecting the connective tissue and is caused by a mutation of the fibrillin-1 (FBN1) gene. It affects multiple systems of the body, most notably the cardiovascular, ocular, skeletal, dural and pulmonary systems. Aortic root dilatation is the most frequent cardiovascular manifestation and its complications, including aortic regurgitation, dissection and rupture are the main cause of morbidity and mortality. OBJECTIVES: To assess the long-term efficacy and safety of beta-blocker therapy as compared to placebo, no treatment or surveillance only in people with Marfan syndrome...
November 7, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29104957/scleral-fixated-intraocular-lenses-past-and-present
#19
Maxwell S Stem, Bozho Todorich, Maria A Woodward, Jason Hsu, Jeremy D Wolfe
Intraocular lenses (IOLs) can have inadequate support for placement in the capsular bag as a result of ocular trauma, metabolic or inherited conditions such as Marfan's syndrome or pseudoexfoliation, or complicated cataract surgery. Surgical options for patients with inadequate capsular support include alternative placement in the anterior chamber (ACIOLs), fixation to the iris, or fixation to the sclera. The surgical techniques for each of these approaches have improved considerably over the last several decades resulting in improved visual and ocular outcomes...
March 2017: Journal of Vitreoretinal Diseases
https://www.readbyqxmd.com/read/29097043/incidence-and-risk-factors-for-retrograde-type-a-dissection-and-stent-graft-induced-new-entry-after-thoracic-endovascular-aortic-repair
#20
Tao Ma, Zhi Hui Dong, Wei Guo Fu, Da Qiao Guo, Xin Xu, Bin Chen, Jun Hao Jiang, Jue Yang, Zhen Yu Shi, Ting Zhu, Yun Shi, Bao Hong Jiang, Xiao Yun Xu
OBJECTIVE: Stent graft (SG)-induced new entry (SINE) and retrograde type A dissection (RTAD) are serious device-related complications occurring after thoracic endovascular aortic repair (TEVAR) for Stanford type B aortic dissection (TBAD) and may lead to endograft-related complications including retrograde dissection and death. The purpose of this study was to investigate the incidence and risk factors for the development of RTAD and SINE after TEVAR for TBAD and to identify the complications associated with this...
October 30, 2017: Journal of Vascular Surgery
keyword
keyword
18927
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"