Read by QxMD icon Read

Genetic aortic syndrome

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
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
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
Hang Yang, Mingyao Luo, Yuanyuan Fu, Yandong Cao, Kunlun Yin, Wenke Li, Chunjie Meng, Yanyun Ma, Jing Zhang, Yuxin Fan, Chang Shu, Qian Chang, Zhou Zhou
Inherited aortopathy, which is characterized by a high risk of fatal aortic aneurysms/dissections, can occur secondarily to several syndromes. To identify genetic mutations and help make a precise diagnosis, we designed a gene panel containing 15 genes responsible for inherited aortopathy and tested 248 probands with aortic disease or Marfan syndrome. The results showed that 92 individuals (37.1%) tested positive for a (likely) pathogenic mutation, most of which were FBN1 mutations. We found that patients with a FBN1 truncating or splicing mutation were more prone to developing severe aortic disease or valvular disease...
2016: Scientific Reports
Bahaaldin Alsoufi, Courtney McCracken, Subhadra Shashidharan, Brian Kogon, William Border, Kirk Kanter
BACKGROUND: The two most common surgical strategies for the treatment of neonates born with single-ventricle anomalies associated with aortic arch obstruction are the Norwood operation and pulmonary artery banding plus coarctation repair (PAB+COA). We reviewed characteristics and outcomes of neonates who underwent those two surgical strategies at our institution. METHODS: Between 2002 and 2012, 94 neonates with a single ventricle and aortic arch obstruction (excluding hypoplastic left heart syndrome) underwent Norwood (n = 65) or PAB+COA (n = 29)...
September 1, 2016: Annals of Thoracic Surgery
David O Arnar, Karl Andersen, Gudmundur Thorgeirsson
In the past ten years large scale genotyping has led to discoveries of sequence variants that confer risk of many common and complex diseases. Due to pioneering work done, in large part, at deCODE genetics in Reykjavik, discoveries from Iceland have contributed substantially to key advances in population genetics. In cardiovascular medicine a number of discoveries have been made, uncovering sequence variants that are associated with disorders such as coronary artery disease, atrial fibrillation, sick sinus syndrome, peripheral vascular disease, aortic aneurysm and ischemic stroke...
August 30, 2016: Scandinavian Cardiovascular Journal: SCJ
Harleen K Sandhu, Akiko Tanaka, Kristofer M Charlton-Ouw, Rana O Afifi, Charles C Miller, Hazim J Safi, Anthony L Estrera
BACKGROUND: Initial optimal management of acute type A aortic dissection (ATAAD) with intramural hematoma (ATAIMH) remains controversial, especially between centers in the Eastern vs. Western worlds. We examined the literature and our experience to report outcomes after repair of ATAIMH. METHODS: We reviewed the hospital, follow-up clinic records and online mortality databases for all patients who presented to our center for open repair of ATAAD between 1999 and 2014...
July 2016: Annals of Cardiothoracic Surgery
Gianluca L Perrucci, Erica Rurali, Aoife Gowran, Alessandro Pini, Carlo Antona, Roberto Chiesa, Giulio Pompilio, Patrizia Nigro
Marfan syndrome (MFS) is a connective tissue disorder with multiple organ manifestations. The genetic cause of this syndrome is the mutation of the FBN1 gene, encoding the extracellular matrix (ECM) protein fibrillin-1. This genetic alteration leads to the degeneration of microfibril structures and ECM integrity in the tunica media of the aorta. Indeed, thoracic aortic aneurysm and dissection represent the leading cause of death in MFS patients. To date, the most effective treatment option for this pathology is the surgical substitution of the damaged aorta...
August 17, 2016: Cellular and Molecular Life Sciences: CMLS
V Saey, T Vandecasteele, G van Loon, P Cornillie, M Ploeg, C Delesalle, A Gröne, I Gielen, R Ducatelle, K Chiers
BACKGROUND: Acquired aortopulmonary fistulation is a rare condition in humans. It usually results as a late complication of a true or pseudoaneurysm of the thoracic aorta. It is most commonly associated with trauma or surgery, less commonly with atherosclerosis, inflammation, hypertension or Marfan's syndrome. Aortopulmonary fistulation is also seen as a rare complication of acute aortic dissection. On rare occasions, acquired aortopulmonary fistulation is reported in aged patients without any of the above mentioned triggering factors...
2016: BMC Research Notes
Chin Siang Ong, Yuhei Kasai, Souta Fukushima, Narutoshi Hibino, Trent Magruder, Alejandro Suarez-Pierre, Duke Cameron, Luca Vricella
Loeys-Dietz syndrome (LDS) is an autosomal dominant genetic connective tissue disorder associated with aortic aneurysmal disease. Kommerell diverticulum (KD) is a rare aortic diverticulum, for which the indication for surgery and the surgical techniques remain subjects of debate. We describe our experience with a successful total aortic arch replacement including KD resection through a median sternotomy for a pediatric patient with LDS.
September 2016: World Journal for Pediatric & Congenital Heart Surgery
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 2016: Journal of the American Heart Association
A Grillo, A Pini, L Gao, G Trifirò, S Marelli, F Viecca, L Salvi, P Salvi, M Rovina, R Carretta, G Parati
OBJECTIVE: Marfan syndrome (MFS) is an autosomal dominant genetic disorder characterized by aortic root dilation beginning in childhood. Aortic stiffness is increased in patients with MFS but data in pediatric age are lacking. Aim of this study was to evaluate aortic stiffness and pulse wave analysis in children and adolescents with MFS, compared to general pediatric population, and its association with aortic root diameters. DESIGN AND METHOD: Fifty-two children with MFS (age: 12...
September 2016: Journal of Hypertension
Tirone E David
The development of aortic valve-sparing operations (reimplantation of the aortic valve and remodeling of the aortic root) expanded the surgical armamentarium for treating patients with aortic root dilation caused by a variety of disorders. Young adults with aortic root aneurysms associated with genetic syndromes are ideal candidates for reimplantation of the aortic valve, and the long-term results have been excellent. Incompetent bicuspid aortic valves with dilated aortic annuli are also satisfactorily treated with the same type of operation...
August 9, 2016: Journal of the American College of Cardiology
Judy G Johnson, Jacob P Bray, William H Risher, Alan David Kaye
Loeys-Dietz syndrome (LDS) is a rare autosomal dominant disease related to genetic mutations in receptors for the cytokine transforming growth factor-receptor type 1 (TGFB-R1) or 2 gene (TGFB-R2) on the cell surface. LDS results in abnormal protein synthesis and dysfunctional connective tissue, which can result in unique cardiovascular anesthesia challenges related to perioperative management. Patients with LDS may manifest hypertelorism, bifid uvula or cleft palate, and arterial tortuosity. Virtually all LDS patients show some type of abnormal skin findings and bleeding tendency...
June 2016: Middle East Journal of Anesthesiology
Anne Marie Jelsig
Hamartomatous polyps (HPs) in the gastrointestinal (GI) tract are rare compared to other types of GI polyps, yet they are the most common type of polyp in children. The symptoms are usually rectal bleeding, abdominal pain, obstipation, anaemia, and/or small bowel obstruction. The polyps are typically removed concurrently with endoscopy when located in the colon, rectum, or stomach, whereas polyps in the small bowel are removed during push-enteroscopy, device-assisted enteroscopy, or by surgery. HPs can be classified as juvenile polyps or Peutz-Jeghers polyps based on their histopathological appearance...
August 2016: Danish Medical Journal
Masaaki Sugawara, Fumiaki Oguma, Hiroyuki Hirahara
Loeys-Dietz syndrome( LDS) is a recently recognized autosomal dominant connective tissue disorder. Mutations in the genes encoding transforming growth factor-beta( TGF-β) receptor 1 and (2 TGFBR1, TGFBR2)have been associated with LDS. We report here 2 cases of LDS in childhood. Case 1 was a 10-year-old man, who had aneurysm of both the pulmonary trunk and the ascending aorta, associated with pulmonary and aortic valve insufficiency. Surgical repair was performed successfully at the age of 17. The aortic valve was replaced with a mechanical valve...
August 2016: Kyobu Geka. the Japanese Journal of Thoracic Surgery
Felicia Stefania Falvella, Susan Marelli, Stefania Cheli, Stefano Montanelli, Federico Viecca, Lucia Salvi, Alfio Ferrara, Emilio Clementi, Giuliana Trifirò, Alessandro Pini
BACKGROUND: Losartan is under evaluation for managing Marfan patients with aortic root dilatation. Cytochrome P450 (CYP) enzymes convert losartan to E3174 active metabolite. The aim of this study is to describe the distribution of CYP2C9*2, CYP2C9*3, CYP3A4*22 and CYP3A5*3 defective alleles, according to losartan tolerance in paediatric Marfan patients. METHODS: We genotyped 53 paediatric Marfan patients treated with losartan. The rate of aortic root dilatation was evaluated using the delta z-score variation...
September 1, 2016: Drug Metabolism and Personalized Therapy
Jaeger P Ackerman, John A Smestad, David J Tester, Muhammad Y Qureshi, Beau A Crabb, Nancy J Mendelsohn, Michael J Ackerman
OBJECTIVE: To use whole exome sequencing (WES) of a family trio to identify a genetic cause for polyvalvular syndrome. METHODS AND RESULTS: A male child was born with mild pulmonary valve stenosis and mild aortic root dilatation, and an atrial septal defect, ventricular septal defect, and patent ductus arteriosus that were closed surgically. Subsequently, the phenotype of polyvalvular syndrome with involvement of both semilunar and both atrioventricular valves emerged...
September 2016: Congenital Heart Disease
Marina Gago-Díaz, Alejandro Blanco-Verea, Gisela Teixidó, Francesca Huguet, Marta Gut, Steven Laurie, Ivo Gut, Ángel Carracedo, Artur Evangelista, María Brion
BACKGROUND: The 20% of thoracic aortic aneurysms and dissections independent from the main connective tissue syndromes and expected to be familial has gained importance over the past years. The more frequent pattern of inheritance of these nonsyndromic cases is autosomal dominant with incomplete penetrance and variable expression. Although many candidate genes exist, unresolved familial cases suggest still unravelled genetic variation. The main purpose of this study was to establish the genetic diagnosis of one of those...
September 2016: European Journal of Clinical Investigation
Christoph A Nienaber, Rachel E Clough, Natzi Sakalihasan, Toru Suzuki, Richard Gibbs, Firas Mussa, Michael T Jenkins, Matt M Thompson, Arturo Evangelista, James S M Yeh, Nicholas Cheshire, Ulrich Rosendahl, John Pepper
Aortic dissection is a life-threatening condition caused by a tear in the intimal layer of the aorta or bleeding within the aortic wall, resulting in the separation (dissection) of the layers of the aortic wall. Aortic dissection is most common in those 65-75 years of age, with an incidence of 35 cases per 100,000 people per year in this population. Other risk factors include hypertension, dyslipidaemia and genetic disorders that involve the connective tissue, such as Marfan syndrome. Swift diagnostic confirmation and adequate treatment are crucial in managing affected patients...
2016: Nature Reviews. Disease Primers
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"