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Genetic aortic syndrome

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https://www.readbyqxmd.com/read/29452988/expert-consensus-recommendations-on-the-cardiogenetic-care-for-patients-with-thoracic-aortic-disease-and-their-first-degree-relatives
#1
Judith M A Verhagen, Marlies Kempers, Luc Cozijnsen, Berto J Bouma, Anthonie L Duijnhouwer, Jan G Post, Yvonne Hilhorst-Hofstee, Sebastiaan C A M Bekkers, Wilhelmina S Kerstjens-Frederikse, Thomas J van Brakel, Eric Lambermon, Marja W Wessels, Bart L Loeys, Jolien W Roos-Hesselink, Ingrid M B H van de Laar
BACKGROUND: Thoracic aortic aneurysm (TAA) is a potentially life-threatening disorder with a strong genetic component. The number of genes implicated in TAA has increased exponentially over the last decade. Approximately 20% of patients with TAA have a positive family history. As most TAA remain asymptomatic for a long time, screening of at risk relatives is warranted to prevent complications. Existing international guidelines lack detailed instructions regarding genetic evaluation and family screening of TAA patients...
February 7, 2018: International Journal of Cardiology
https://www.readbyqxmd.com/read/29433732/inhibition-of-marfan-syndrome-aortic-root-dilation-by-losartan-role-of-angiotensin-ii-receptor-type-1-independent-activation-of-endothelial-function
#2
Stephanie L Sellers, Nadia Milad, Rayleigh Chan, Michael Mielnik, Una Jermilova, Paul L Huang, Rini de Crom, Jeremy A Hirota, James C Hogg, George G Sandor, Casey Van Breemen, Mitra Esfandiarei, Michael A Seidman, Pascal Bernatchez
Marfan syndrome (MFS) is a genetic disorder that frequently leads to aortic root dissection and aneurysm. Despite promising preclinical and pilot clinical data, a recent large-scale study using antihypertensive angiotensin II (AngII) receptor type 1 (ATR1) blocker losartan has failed to meet expectations at preventing MFS-associated aortic root dilation, casting doubts about optimal therapy. To study the deleterious role of normal ATR1 signaling in aortic root widening, we generated MFS mice lacking ATR1a expression in an attempt to preserve protective ATR2 signaling...
February 3, 2018: American Journal of Pathology
https://www.readbyqxmd.com/read/29430994/aortic-arch-anomalies-detected-in-foetal-life-by-echocardiography
#3
Funda Oztunc, Sezen Ugan Atik, Reyhan Dedeoglu, Mehmet Aytac Yuksel, Rıza Madazlı
Aortic arch anomalies refer to congenital malformations of position or branching pattern of the aortic arch. To-date, only a few small studies have documented prenatal detection of aortic arch anomalies. In this article, we share our experience in detecting aortic arch anomalies. Foetal echocardiograms, clinic and genetic histories of 33 patients who had been diagnosed with aortic arch anomaly from 2007 to 2015 were reviewed. In 15 patients, right aortic arch with mirror image branching; in 13 patients, right aortic arch with left ductus arteriosus and aberrant left subclavian artery; in three patients, left aortic arch with aberrant right subclavian artery; in one patient bilateral ductus and right aortic arch with aberrant left subclavian artery and in one patient double aortic arch were detected...
February 12, 2018: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29373648/management-and-outcomes-of-childhood-renal-artery-stenosis-and-middle-aortic-syndrome
#4
Rawan K Rumman, Mina Matsuda-Abedini, Valerie Langlois, Seetha Radhakrishnan, Armando J Lorenzo, Joao Amaral, Luc Mertens, Rulan S Parekh
Background: Renal artery stenosis (RAS) in isolation or in conjunction with middle aortic syndrome (MAS), are important vascular causes of childhood hypertension. Few longitudinal studies have assessed the risk of surgical or endovascular intervention, and outcomes by etiology or extent of vascular disease. Methods: In a retrospective study of 93 children seen over 30 years with RAS and/or MAS, data on vascular involvement (isolated RAS vs RAS with MAS), etiology (unknown, inflammatory, or genetic), and management were collected...
January 24, 2018: American Journal of Hypertension
https://www.readbyqxmd.com/read/29357934/the-importance-of-genotype-phenotype-correlation-in-the-clinical-management-of-marfan-syndrome
#5
Víctor Manuel Becerra-Muñoz, Juan José Gómez-Doblas, Carlos Porras-Martín, Miguel Such-Martínez, María Generosa Crespo-Leiro, Roberto Barriales-Villa, Eduardo de Teresa-Galván, Manuel Jiménez-Navarro, Fernando Cabrera-Bueno
BACKGROUND: Marfan syndrome (MFS) is a disorder of autosomal dominant inheritance, in which aortic root dilation is the main cause of morbidity and mortality. Fibrillin-1 (FBN-1) gene mutations are found in more than 90% of MFS cases. The aim of our study was to summarise variants in FBN-1 and establish the genotype-phenotype correlation, with particular interest in the onset of aortic events, in a broad population of patients with an initial clinical suspicion of MFS. MATERIAL AND METHODS: This single centre prospective cohort study included all patients presenting variants in the FBN-1 gene who visited a Hereditary Aortopathy clinic between September 2010 and October 2016...
January 22, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29339108/phenotype-in-girls-and-women-with-turner-syndrome-association-between-dysmorphic-features-karyotype-and-cardio-aortic-malformations
#6
Iris Noordman, Anthonie Duijnhouwer, Livia Kapusta, Marlies Kempers, Nel Roeleveld, Michiel Schokking, Dominique Smeets, Kim Freriks, Henri Timmers, Janiëlle van Alfen-van der Velden
INTRODUCTION: Turner syndrome (TS) is a genetic disorder characterized by the (partial) absence or a structural aberration of the second sex chromosome and is associated with a variety of phenotypes with specific physical features and cardio-aortic malformations. The objective of this study was to gain a better insight into the differences in dysmorphic features between girls and women with TS and to explore the association between these features, karyotype and cardio-aortic malformations...
January 12, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29323665/arterial-tortuosity-syndrome-40-new-families-and-literature-review
#7
Aude Beyens, Juliette Albuisson, Annekatrien Boel, Mazen Al-Essa, Waheed Al-Manea, Damien Bonnet, Ozlem Bostan, Odile Boute, Tiffany Busa, Nathalie Canham, Ergun Cil, Paul J Coucke, Margot A Cousin, Majed Dasouki, Julie De Backer, Anne De Paepe, Sofie De Schepper, Deepthi De Silva, Koenraad Devriendt, Inge De Wandele, David R Deyle, Harry Dietz, Sophie Dupuis-Girod, Eudice Fontenot, Björn Fischer-Zirnsak, Alper Gezdirici, Jamal Ghoumid, Fabienne Giuliano, Neus Baena Diéz, Mohammed Z Haider, Joshua S Hardin, Xavier Jeunemaitre, Eric W Klee, Uwe Kornak, Manuel F Landecho, Anne Legrand, Bart Loeys, Stanislas Lyonnet, Helen Michael, Pamela Moceri, Shehla Mohammed, Laura Muiño-Mosquera, Sheela Nampoothiri, Karin Pichler, Katrina Prescott, Anna Rajeb, Maria Ramos-Arroyo, Massimiliano Rossi, Mustafa Salih, Mohammed Z Seidahmed, Elise Schaefer, Elisabeth Steichen-Gersdorf, Sehime Temel, Fahrettin Uysal, Marine Vanhomwegen, Lut Van Laer, Lionel Van Maldergem, David Warner, Andy Willaert, Tom R Collins, Andrea Taylor, Elaine C Davis, Yuri Zarate, Bert Callewaert
PurposeWe delineate the clinical spectrum and describe the histology in arterial tortuosity syndrome (ATS), a rare connective tissue disorder characterized by tortuosity of the large and medium-sized arteries, caused by mutations in SLC2A10.MethodsWe retrospectively characterized 40 novel ATS families (50 patients) and reviewed the 52 previously reported patients. We performed histology and electron microscopy (EM) on skin and vascular biopsies and evaluated TGF-β signaling with immunohistochemistry for pSMAD2 and CTGF...
January 11, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29320330/cardiovascular-manifestations-and-complications-of-loeys-dietz-syndrome-ct-and-mr-imaging-findings
#8
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/29307552/aortic-root-dilation-do-patients-with-marfan-syndrome-fare-worse-than-those-with-marfanoid-features
#9
Meghana R K Helder, Hartzell V Schaff, Thomas A Foley, Nandan S Anavekar, David R Deyle, Alberto Pochettino, Heidi M Connolly
OBJECTIVE: To discover whether patients with aortic root dilation and leptosomic features but without a diagnosis of Marfan syndrome (MFS) fare similarly to patients with MFS. METHODS: Of 124 patients with aortic root dilation identified from August 1, 1994, through October 31, 2012, 66 had MFS and 58 had leptosomic features but did not meet the Ghent criteria. Genetic testing was performed in 35% of patients (n=43). We compared z scores and aortic root diameters for patients who presented with aortic root dilation with and without an MFS diagnosis and with and without aortic root repair...
January 4, 2018: Mayo Clinic Proceedings
https://www.readbyqxmd.com/read/29302938/long-term-results-of-aortic-root-surgery-in-marfan-syndrome-patients-a-single-center-experience
#10
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/29300374/clinical-history-and-management-recommendations-of-the-smooth-muscle-dysfunction-syndrome-due-to-acta2-arginine-179-alterations
#11
Ellen S Regalado, Lauren Mellor-Crummey, Julie De Backer, Alan C Braverman, Lesley Ades, Susan Benedict, Timothy J Bradley, M Elizabeth Brickner, Kathryn C Chatfield, Anne Child, Cori Feist, Kathryn W Holmes, Glen Iannucci, Birgit Lorenz, Paul Mark, Takayuki Morisaki, Hiroko Morisaki, Shaine A Morris, Anna L Mitchell, John R Ostergaard, Julie Richer, Denver Sallee, Sherene Shalhub, Mustafa Tekin, Anthony Estrera, Patricia Musolino, Anji Yetman, Reed Pyeritz, Dianna M Milewicz
PurposeSmooth muscle dysfunction syndrome (SMDS) due to heterozygous ACTA2 arginine 179 alterations is characterized by patent ductus arteriosus, vasculopathy (aneurysm and occlusive lesions), pulmonary arterial hypertension, and other complications in smooth muscle-dependent organs. We sought to define the clinical history of SMDS to develop recommendations for evaluation and management.MethodsMedical records of 33 patients with SMDS (median age 12 years) were abstracted and analyzed.ResultsAll patients had congenital mydriasis and related pupillary abnormalities at birth and presented in infancy with a patent ductus arteriosus or aortopulmonary window...
January 4, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29281993/vitamin-e-protects-against-extraskeletal-calcification-in-uremic-rats-fed-high-fat-diets
#12
Rafael Rios, Ana I Raya, Carmen Pineda, Mariano Rodriguez, Ignacio Lopez, Escolastico Aguilera-Tejero
BACKGROUND: High fat diets are implicated in the pathogenesis of metabolic syndrome, obesity and renal disease. Previous studies have revealed that high fat diets promote vascular calcification in uremic rats. Moreover, vitamin E has been shown to prevent uremic calcifications in genetically obese Zucker rats fed standard diet. The objective of this study was to investigate the influence of vitamin E supplementation on the development of extraskeletal calcifications in non-obese (wild type) uremic rats fed high fat diets...
December 28, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/29227713/a-case-report-of-in-utero-williams-syndrome-arterial-malformation
#13
Andrew John Kobalka, Robert E Mrak, William T Gunning
INTRODUCTION: Williams syndrome (WS), an autosomal dominant condition linked to gene deletions on chromosome 7, can cause supravalvular aortic narrowing and death. WS-associated mutations are believed to disrupt arterial elastin fibers, causing smooth muscle malformation, endomysial fibrosis and severe hypertension. Previous studies demonstrated arterial ultrastructural anomalies in adult WS patients. It is not presently known if the arterial phenotype of WS is also present in utero. CASE REPORT: A 34-week stillborn was delivered to a 28-year-old with genetically confirmed WS...
December 11, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29210860/aortic-dilatation-in-marfan-syndrome-role-of-arterial-stiffness-and-fibrillin-1-variants
#14
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/29204794/thoracic-aortic-aneurysm-unlocking-the-silent-killer-secrets
#15
Ayman A Saeyeldin, Camilo A Velasquez, Syed Usman B Mahmood, Adam J Brownstein, Mohammad A Zafar, Bulat A Ziganshin, John A Elefteriades
Thoracic aortic aneurysm (TAA) is an increasingly recognized condition that is often diagnosed incidentally. This review discusses ten of the most relevant epidemiological and clinical secrets of this disease; (1) the difference in pathogenesis between ascending and descending TAAs. TAAs at these two sites act as different diseases, which is related to the different embryologic origins of the ascending and descending aorta. (2) The familial pattern and genetics of thoracic aneurysms. Syndromic TAAs only explain 5% of the pattern of inheritance...
December 4, 2017: General Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29202781/acta2-mutation-and-postpartum-hemorrhage-a-case-report
#16
Kylie Cooper, Stephen Brown
BACKGROUND: ACTA2 encodes smooth muscle specific α-actin, a critical component or the contractile complex of vascular smooth muscle. Mutations in ACTA2 are the most common genetic cause of thoracic aortic aneurysm, and are also the cause of other disorders, including Moyamoya disease, coronary artery disease and stroke as well as Multisystemic Smooth Muscle Dysfunction Syndrome. We note that ACTA2 is also expressed in uterine smooth muscle, and this raises the possibility that women harboring ACTA2 mutations might exhibit uterine smooth muscle dysfunction...
December 4, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29202755/h558r-a-common-scn5a-polymorphism-modifies-the-clinical-phenotype-of-brugada-syndrome-by-modulating-dna-methylation-of-scn5a-promoters
#17
Hiroya Matsumura, Yukiko Nakano, Hidenori Ochi, Yuko Onohara, Akinori Sairaku, Takehito Tokuyama, Shunsuke Tomomori, Chikaaki Motoda, Michitaka Amioka, Naoya Hironobe, Masaaki Toshishige, Shinya Takahashi, Katsuhiko Imai, Taijiro Sueda, Kazuaki Chayama, Yasuki Kihara
BACKGROUND: A common SCN5A polymorphism H558R (c.1673 A > G, rs1805124) improves sodium channel activity in mutated channels and known to be a genetic modifier of Brugada syndrome patients (BrS). We investigated clinical manifestations and underlying mechanisms of H558R in BrS. METHODS AND RESULTS: We genotyped H558R in 100 BrS (mean age 45 ± 14 years; 91 men) and 1875 controls (mean age 54 ± 18 years; 1546 men). We compared clinical parameters in BrS with and without H558R (H558R+ vs...
December 4, 2017: Journal of Biomedical Science
https://www.readbyqxmd.com/read/29196848/left-sided-congenital-heart-lesions-in-mosaic-turner-syndrome
#18
Nouha Bouayed Abdelmoula, Balkiss Abdelmoula, Walid Smaoui, Imen Trabelsi, Rim Louati, Samir Aloulou, Wafa Aloulou, Fatma Abid, Senda Kammoun, Khaled Trigui, Olfa Bedoui, Hichem Denguir, Souad Mallek, Mustapha Ben Aziza, Jamila Dammak, Oldez Kaabi, Nawel Abdellaoui, Fatma Turki, Asma Kaabi, Wafa Kamoun, Jihen Jabeur, Wided Ltaif, Kays Chaker, Haytham Fourati, Samir M'rabet, Hedi Ben Ameur, Naourez Gouia, Mohamed Nabil Mhiri, Tarek Rebai
In the era of the diseasomes and interactome networks, linking genetics with phenotypic traits in Turner syndrome should be studied thoroughly. As a part of this stratagem, mosaicism of both X and Y chromosome which is a common finding in TS and an evaluation of congenital heart diseases in the different situations of mosaic TS types, can be helpful in the identification of disturbed sex chromosomes, genes and signaling pathway actors. Here we report the case of a mosaic TS associated to four left-sided CHD, including BAV, COA, aortic aneurysms and dissections at an early age...
December 1, 2017: Molecular Genetics and Genomics: MGG
https://www.readbyqxmd.com/read/29191731/characteristic-morphologies-of-the-bicuspid-aortic-valve-in-patients-with-genetic-syndromes
#19
Talha Niaz, Joseph T Poterucha, Timothy M Olson, Jonathan N Johnson, Cecilia Craviari, Thomas Nienaber, Jared Palfreeman, Frank Cetta, Donald J Hagler
BACKGROUND: In patients with bicuspid aortic valve (BAV), complications including progressive aortic stenosis and aortic dilatation develop over time. The morphology of cusp fusion is one of the determinants of the type and severity of these complications. We present the association of morphology of cusp fusion in BAV patients with distinctive genetic syndromes. METHODS: The Mayo Clinic echocardiography database was retrospectively reviewed to identify patients (age ≤ 22 years) diagnosed with BAV from 1990 to 2016...
November 28, 2017: Journal of the American Society of Echocardiography
https://www.readbyqxmd.com/read/29176310/urinary-disorders-and-marfan-syndrome-a-series-of-4-cases
#20
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
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