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Marfan syndrome

Maral Ouzounian, Vivek Rao, Cedric Manlhiot, Nachum Abraham, Carolyn David, Christopher M Feindel, Tirone E David
BACKGROUND: Although aortic valve-sparing (AVS) operations are established alternatives to composite valve graft (CVG) procedures for patients with aortic root aneurysms, comparative long-term outcomes are lacking. OBJECTIVES: This study sought to compare the results of patients undergoing AVS procedures with those undergoing CVG operations. METHODS: From 1990 to 2010, a total of 616 patients age <70 years and without aortic stenosis underwent elective aortic root surgery (AVS, n = 253; CVG with a bioprosthesis [bio-CVG], n = 180; CVG with a mechanical prosthesis [m-CVG], n = 183)...
October 25, 2016: Journal of the American College of Cardiology
Emma Hitchcock, William T Gibson
Here we review the current understanding of the genetic architecture of intracranial berry aneurysms (IBA) to aid in the genetic counseling of patients at risk for this condition. The familial subtype of IBA, familial intracranial aneurysms (FIA), is associated with increased frequency of IBA, increased risk of rupture, and increased morbidity and mortality after rupture. Family history is the strongest predictor for the development of IBA. However, a genetic test is not yet available to assess risk within a family...
October 14, 2016: Journal of Genetic Counseling
Shane C Quinonez, Thomas D Gelehrter, Wendy R Uhlmann
Small supernumerary marker chromosomes (sSMC) are abnormal chromosomes that cannot be characterized by standard banding cytogenetic techniques. A minority of sSMC contain a neocentromere, which is an ectopic centromere lacking the characteristic alpha-satellite DNA. The phenotypic manifestations of sSMC and neocentromeric sSMC are variable and range from severe intellectual disability and multiple congenital anomalies to a normal phenotype. Here we report a patient with a diagnosis of Marfan syndrome and infertility found to have an abnormal karyotype consisting of a chromosome 15 deletion and a ring-type sSMC likely stabilized by a neocentromere derived via a mechanism initially described by Barbara McClintock in 1938...
October 14, 2016: American Journal of Medical Genetics. Part A
Yohei Akazawa, Noriko Motoki, Akira Tada, Shoko Yamazaki, Akira Hachiya, Satoshi Matsuzaki, Motoko Kamiya, Tomohiko Nakamura, Tomoki Kosho, Yuji Inaba
BACKGROUND: The characteristics of aortic elasticity are unclear in children with connective tissue disorders (CTDs) such as Marfan syndrome (MFS) and Loeys-Dietz syndrome (LDS), especially in those with a non-dilated aortic root (AoR). This study evaluated the aortic elasticity properties of pediatric MFS and LDS patients with either dilated or non-dilated AoR.Methods and Results:The 31 children with MFS or LDS were classified into dilated (Z score of AoR diameter ≥2.5; n=17) or non-dilated (Z score of AoR diameter <2...
October 13, 2016: Circulation Journal: Official Journal of the Japanese Circulation Society
Hemanth Kumar Kalla, A Venugopal Guptha, G Vijaya Kumar, G Lokendra Nath
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
Behera Sanja Sameer, Kaur Navjyot, Navjyot Kd, Singh Yashpal
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
Surekha K, Vijay Babu D, Katyayini Mk, Rambabu K, Srinivas S
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
Rustam Zhurayev, Dorien Proost, Dmytro Zerbino, Viktor Fedorenko, Josephina A N Meester, Lut VAN Laer, Bart L Loeys
Marfan syndrome is an autosomal dominant connective tissue disorder, predominantly affecting the ocular, skeletal and cardiovascular systems. Here, we present the results of the first genetic testing in 40 Ukrainian Marfan (-like) patients and 10 relatives. We applied a targeted next generation sequencing panel comprising FBN1 and 13 thoracic aortic aneurysm genes. We identified 27 causal mutations in FBN1, obtaining a mutation yield of 67·5%. A significant difference in age at aortic surgery between mutation positive and negative patients was observed...
October 11, 2016: Genetics Research
Hossein Mohammad Rabie, Parviz Malekifar, Mohammad Ali Javadi, Danial Roshandel, Hamed Esfandiari
PURPOSE: To review our experience with crystalline lens extraction and iris claw Artisan IOL implantation in patients with lens subluxation secondary to Marfan syndrome. METHODS: A retrospective analysis of 12 eyes of 9 patients with lens subluxation due to Marfan syndrome who underwent crystalline lens removal and Artisan IOL (Ophtec, Groningen, Netherlands) implantation. A questionnaire of pre- and post-operative data, including demographics, pre- and postoperative comorbidities and complications was completed...
October 5, 2016: International Ophthalmology
A W den Hartog, R Franken, M P van den Berg, A H Zwinderman, J Timmermans, A J Scholte, V de Waard, A M Spijkerboer, G Pals, B J M Mulder, M Groenink
BACKGROUND: Mild biventricular dysfunction is often present in patients with Marfan syndrome. Losartan has been shown to reduce aortic dilatation in patients with Marfan syndrome. This study assesses the effect of losartan on ventricular volume and function in genetically classified subgroups of asymptomatic Marfan patients without significant valvular regurgitation. METHODS: In this predefined substudy of the COMPARE study, Marfan patients were classified based on the effect of their FBN1 mutation on fibrillin-1 protein, categorised as haploinsufficient or dominant negative...
November 2016: Netherlands Heart Journal
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
Davide Patrini, Mohamed Amirali Gulamhussein, Pasquale Pellegrino, Marianna Redaelli, Jonathan Pararajasingham, David Lawrence, Nikolaos Panagiotopoulos
INTRODUCTION: Gossypiboma, also referred to as a textiloma, gauzoma or muslinoma describe a mass in the body composed of a central cotton core surrounded by a foreign body reaction. It has an estimated incidence of 1/1000-1/10000 surgeries, occurring in the abdomen (56%), pelvis (18%) and least commonly the thorax (11%) and represents an unfortunate event for both the patient and the operating surgeon with severe liability implications. PRESENTATION OF CASE: We report a case of a 49-year-old male with Marfan Syndrome who was admitted to the cardiology department with a four day history of shortness of breath and associated dull, non-radiating chest pain...
September 23, 2016: International Journal of Surgery Case Reports
Jean-Claude Bernard, Karimann Abelin-Genevois, Isabelle Courtois
This is a national retrospective study realized by the Study Group of Scoliosis (GES) with the support of 7 competence centers about the follow up of the spine for patients with Marfan's disease. The sample consists of 167 patients: 99 women and 67 men. It is composed of children and adults and the mean age is 31 years. In this sample, we find 72% of spine deformity (scoliosis and kyphosis): in the literature, 63% for Sponseller and al, (JBJSa 1995), and 56% for Garreau and al, (JBJS, 2006). The discovery of the spine problem is effective of 12,8 years old (ET=4,2; range=1-53)...
September 2016: Annals of Physical and Rehabilitation Medicine
Ding Yuan, Jichun Zhao, Bin Huang, Yi Yang
No abstract text is available yet for this article.
October 2016: Journal of Vascular Surgery
Carl Rudolf Blankart, Ricarda Milstein, Meike Rybczynski, Helke Schüler, Yskert von Kodolitsch
Marfan syndrome is a rare multisystem disease of the connective tissue, which affects multiple organ systems. advances in healthcare have doubled the life-expectancy of patients over the past three decades. to date, there is no comprehensive review that consolidates economic considerations and care for marfan patients. Areas covered: Present research suggests that there may be a link between treatment pattern, disease progression and economic costs of Marfan syndrome. It indicates that an early detection of the disease and preventive interventions achieve a dual aim...
October 6, 2016: Expert Review of Pharmacoeconomics & Outcomes Research
Amélie Pinard, David Salgado, Jean-Pierre Desvignes, Ghadi Rai, Nadine Hanna, Pauline Arnaud, Céline Guien, Maria Martinez, Laurence Faivre, Guillaume Jondeau, Catherine Boileau, Stéphane Zaffran, Christophe Béroud, Gwenaëlle Collod-Béroud
High-throughput next-generation sequencing such as whole-exome and whole-genome sequencing are being rapidly integrated into clinical practice. The use of these techniques leads to the identification of secondary variants for which decisions about the reporting or not to the patient need to be made. The American College of Medical Genetics and Genomics recently published recommendations for the reporting of these variants in clinical practice for 56 "actionable" genes. Among these, seven are involved in Marfan Syndrome And Related Disorders (MSARD) resulting from mutations of the FBN1, TGFBR1 and 2, ACTA2, SMAD3, MYH11 and MYLK genes...
September 20, 2016: Human Mutation
David Bell, David Marshman
We describe the case of a 70-year-old man with Marfan Syndrome who was found to have Diffuse Large B Cell Lymphoma (DLBCL) within an ascending aortic graft, his native aortic arch and arch vessels. Ten years previously he had undergone a Bentall's Procedure for a dilated aortic root. He presented with a left middle cerebral artery stroke. Computed tomography (CT) scan revealed multiple filling defects within the aortic arch and branch vessels suggestive of thrombus. Following the stroke, his neurological deficit improved...
August 31, 2016: Heart, Lung & Circulation
Josephina A N Meester, Geert Vandeweyer, Isabel Pintelon, Martin Lammens, Lana Van Hoorick, Simon De Belder, Kathryn Waitzman, Luciana Young, Larry W Markham, Julie Vogt, Julie Richer, Luc M Beauchesne, Sheila Unger, Andrea Superti-Furga, Milan Prsa, Rami Dhillon, Edwin Reyniers, Harry C Dietz, Wim Wuyts, Geert Mortier, Aline Verstraeten, Lut Van Laer, Bart L Loeys
PURPOSE: Thoracic aortic aneurysm and dissection (TAAD) is typically inherited in an autosomal dominant manner, but rare X-linked families have been described. So far, the only known X-linked gene is FLNA, which is associated with the periventricular nodular heterotopia type of Ehlers-Danlos syndrome. However, mutations in this gene explain only a small number of X-linked TAAD families. METHODS: We performed targeted resequencing of 368 candidate genes in a cohort of 11 molecularly unexplained Marfan probands...
September 15, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Gananjay G Salve, Satish R Javali, Bharat V Dalvi, Shivaprakash Krishnanaik
Aneurysms of ascending aorta are rarely seen in pediatric age group. Only few cases with Marfans syndrome have been reported in the literature. Preferred treatment for these children has been the standard Bentall procedure (aortic root replacement with composite graft prosthesis). We report a 4-year-old male child with huge aneurysm of ascending aorta and aortic root dilation with severe aortic regurgitation, having phenotypic features of Loeys-Dietz syndrome type I. He underwent Bentall procedure with a novel modification (medial trap-door technique for coronary reimplantation)...
September 2016: Annals of Pediatric Cardiology
Sanat Bhatkar, Sahil Mehta, Vinny Wilson, Vivek Lal
No abstract text is available yet for this article.
September 2016: Neurology India
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