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Genetic aortic syndrome

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https://www.readbyqxmd.com/read/29656818/the-aortic-root-does-not-dilate-over-time-after-replacement-of-the-aortic-valve-and-ascending-aorta-in-patients-with-bicuspid-or-tricuspid-aortic-valves
#1
Sonya K Hui, Chun-Po Steve Fan, Shakira Christie, Christopher M Feindel, Tirone E David, Maral Ouzounian
OBJECTIVE: Whether the aortopathy associated with bicuspid aortic valve (BAV) disease occurs secondary to genetic or hemodynamic factors remains controversial. In this article we describe the natural history of the aortic root in patients with bicuspid versus tricuspid aortic valves (TAVs) after replacement of the aortic valve and ascending aorta. METHODS: From 1990 to 2010, 406 patients (269 BAV, 137 TAV) underwent aortic valve and ascending aorta replacement at a single institution...
March 13, 2018: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29614955/a-method-for-determining-haploid-and-triploid-genotypes-and-their-association-with-vascular-phenotypes-in-williams-syndrome-and-7q11-23-duplication-syndrome
#2
Michael D Gregory, Bhaskar Kolachana, Yin Yao, Tiffany Nash, Dwight Dickinson, Daniel P Eisenberg, Carolyn B Mervis, Karen F Berman
BACKGROUND: Williams syndrome ([WS], 7q11.23 hemideletion) and 7q11.23 duplication syndrome (Dup7) show contrasting syndromic symptoms. However, within each group there is considerable interindividual variability in the degree to which these phenotypes are expressed. Though software exists to identify areas of copy number variation (CNV) from commonly-available SNP-chip data, this software does not provide non-diploid genotypes in CNV regions. Here, we describe a method for identifying haploid and triploid genotypes in CNV regions, and then, as a proof-of-concept for applying this information to explain clinical variability, we test for genotype-phenotype associations...
April 4, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29599822/novel-phenotype-of-5p13-3-q11-2-duplication-resulting-from-supernumerary-marker-chromosome-5-implications-for-management-and-genetic-counseling
#3
Margaret E Armstrong, David D Weaver, Melissa D Lah, Gail H Vance, Benjamin J Landis, Stephanie M Ware, Benjamin M Helm
Background: Supernumerary marker chromosomes derived from chromosome 5 (SMC5) and 5p13 duplication syndrome are rare disorders, and phenotypic descriptions of patients are necessary to better define genotype-phenotype correlations for accurate, comprehensive genetic counseling. The purpose of this study is to highlight the unique findings of a patient with a 5p13.3-q11.2 duplication arising from a SMC5 and compare and contrast the phenotype with cases in the literature. Case presentation: We report on an adult male with a 22 Mb duplication of chromosome 5p13...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29567025/endovascular-thoracic-aortic-repair-in-confirmed-or-suspected-genetically-triggered-thoracic-aortic-dissection
#4
Sherene Shalhub, Kim A Eagle, Federico M Asch, Scott A LeMaire, Dianna M Milewicz
OBJECTIVE: Endovascular repair in patients with connective tissues disorders is not recommended because of concern for repair failure. The aim of this study was to investigate thoracic endovascular aortic repair (TEVAR) outcomes in patients with confirmed or suspected syndromic and nonsyndromic genetically triggered thoracic aortic dissection. METHODS: We analyzed data for patients with descending thoracic aorta (DTA) dissection treated with TEVAR from the National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC)...
March 19, 2018: Journal of Vascular Surgery
https://www.readbyqxmd.com/read/29543232/targeted-genetic-analysis-in-a-large-cohort-of-familial-and-sporadic-cases-of-aneurysm-or-dissection-of-the-thoracic-aorta
#5
Ruwan Weerakkody, David Ross, David A Parry, Bulat Ziganshin, Jana Vandrovcova, Piyush Gampawar, Abdulshakur Abdullah, Jennifer Biggs, Julia Dumfarth, Yousef Ibrahim, Colin Bicknell, Mark Field, John Elefteriades, Nick Cheshire, Timothy J Aitman
PurposeThoracic aortic aneurysm/aortic dissection (TAAD) is a disorder with highly variable age of onset and phenotype. We sought to determine the prevalence of pathogenic variants in TAAD-associated genes in a mixed cohort of sporadic and familial TAAD patients and identify relevant genotype-phenotype relationships.MethodsWe used a targeted polymerase chain reaction and next-generation sequencing-based panel for genetic analysis of 15 TAAD-associated genes in 1,025 unrelated TAAD cases.ResultsWe identified 49 pathogenic or likely pathogenic (P/LP) variants in 47 cases (4...
March 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29543228/congenital-heart-disease-and-aortic-arch-variants-associated-with-mutation-in-phox2b
#6
Rachel C Lombardo, Aleksey Porollo, James F Cnota, Robert J Hopkin
PurposeCongenital central hypoventilation syndrome (CCHS, OMIM 209880) is a rare autosomal dominant disorder caused by mutation in PHOX2B that manifests as a consequence of abnormal neural crest cell migration during embryogenesis. Unlike other neurocristopathies, however, its impact on the cardiovascular system has not been previously assessed. This study was an effort to characterize the association between congenital heart disease (CHD) and mutations in PHOX2B in patients with CCHS.MethodsA retrospective review of patients with CCHS in conjunction with functional analysis of PHOX2B mutations associated with CHD was performed...
March 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29510914/testing-patterns-for-genetically-triggered-aortic-and-arterial-aneurysms-and-dissections-at-an-academic-center
#7
Kelli L Hicks, Peter H Byers, Elina Quiroga, Melanie G Pepin, Sherene Shalhub
OBJECTIVE: The contemporary practice of testing for genetically triggered aortic and arterial aneurysms and dissections is not well described. This study aimed to describe this practice at a tertiary care academic center and to ascertain the yield of testing in establishing the diagnosis in patients referred on the basis of clinical suspicion. METHODS: This is a retrospective cohort study of patients referred for vascular genetic testing at an academic medical center between 2010 and 2015...
March 3, 2018: Journal of Vascular Surgery
https://www.readbyqxmd.com/read/29506732/common-presentation-of-rare-diseases-aortic-aneurysms-valves
#8
Eloisa Arbustini, Valentina Favalli, Alessandro Di Toro, Lorenzo Giuliani, Giuseppe Limongelli
The concept "common presentation of rare diseases" implies that rare diseases are masked by common phenotypic manifestations. This concept applies to both aneurysmal and valvular diseases that can be syndromic and non-syndromic. Syndromic disorders include genetic connective tissue diseases and chromosomal disorders that are diagnosed independently from the aneurysm or valve disease. Non-syndromic diseases, on the other hand, are defined by the presence of aneurysm or valve disease or both. The reasons for suspecting these rare diseases include young age, the absence of risk factors, a positive family history for aortic or valvular disease/event, and extra-cardiovascular traits for syndromes...
April 15, 2018: International Journal of Cardiology
https://www.readbyqxmd.com/read/29501665/elastin-driven-genetic-diseases
#9
REVIEW
Maria Laura Duque Lasio, Beth A Kozel
Elastic fibers provide recoil to tissues that undergo repeated deformation, such as blood vessels, lungs and skin. Composed of elastin and its accessory proteins, the fibers are produced within a restricted developmental window and are stable for decades. Their eventual breakdown is associated with a loss of tissue resiliency and aging. Rare alteration of the elastin (ELN) gene produces disease by impacting protein dosage (supravalvar aortic stenosis, Williams Beuren syndrome and Williams Beuren region duplication syndrome) and protein function (autosomal dominant cutis laxa)...
February 28, 2018: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/29498532/minoxidil-improves-vascular-compliance-restores-cerebral-blood-flow-and-alters-extracellular-matrix-gene-expression-in-a-model-of-chronic-vascular-stiffness
#10
Russell Knutsen, Scott C Beeman, Thomas J Broekelmann, Delong Liu, Kit Man Tsang, Attila Kovacs, Li Ye, Joshua Danback, Anderson Watson, Amanda Wardlaw, Jessica Wagenseil, Joel R Garbow, Michael Shoykhet, Beth A Kozel
Increased vascular stiffness correlates with higher risk of cardiovascular complications in aging adults. Elastin insufficiency, as observed in patients with Williams-Beuren syndrome or with familial supravalvular aortic stenosis, also increases vascular stiffness and leads to arterial narrowing. We used Eln+/- mice to test the hypothesis that pathologically increased vascular stiffness with concomitant arterial narrowing leads to decreased blood flow to end organs such as the brain. We also hypothesized that drugs which remodel arteries and increase lumen diameter would improve flow...
March 2, 2018: American Journal of Physiology. Heart and Circulatory Physiology
https://www.readbyqxmd.com/read/29483877/participation-of-arachidonic-acid-metabolism-in-the-aortic-aneurysm-formation-in-patients-with-marfan-syndrome
#11
María E Soto, Verónica Guarner-Lans, Karla Y Herrera-Morales, Israel Pérez-Torres
Marfan syndrome (MFS) is a pleiotropic genetic disease involving the cardiovascular system where a fibrillin-1 mutation is present. This mutation is associated with accelerated activation of transforming growth factor β (TGFβ1) which contributes to the formation of aneurysms in the root of the aorta. There is an imbalance in the synthesis of thromboxane A2 (TXA2 ) and prostacyclin, that is a consequence of a differential protein expression of the isoforms of cyclooxygenases (COXs), suggesting an alteration of arachidonic acid (AA) metabolism...
2018: Frontiers in Physiology
https://www.readbyqxmd.com/read/29452988/expert-consensus-recommendations-on-the-cardiogenetic-care-for-patients-with-thoracic-aortic-disease-and-their-first-degree-relatives
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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...
February 2018: Mayo Clinic Proceedings
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