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J. Ponińska, Z. Bilińska, M. Franaszczyk, E. Michalak, M. Rydzanicz, E. Szpakowski, A. Pollak, B. Milanowska, G. Truszkowska, P. Chmielewski, Agnieszka Sioma, H. Janaszek-sitkowska, A. Klisiewicz, I. Michałowska, M. Makowiecka-ciesla, P. Kołsut, P. Stawiński, B. Foss-Nieradko, M. Szperl, J. Grzybowski, P. Hoffman, A. Januszewicz, M. Kuśmierczyk, R. Płoski (2016)
Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlationsJournal of Translational Medicine, 14
H Pannu, V Tran-Fadulu, D Milewicz (2005)
Genetic basis of thoracic aortic aneurysms and aortic dissectionsAm Mournal Med Genet Part C, 139C
G. Bisleri, Lorenzo Bagozzi, C. Muneretto (2013)
Current Evidence and Insights about Genetics in Thoracic Aorta DiseaseThe Scientific World Journal, 2013
A. Saratzis, M. Bown (2014)
The genetic basis for aortic aneurysmal diseaseHeart, 100
M. Klintschar, U. Bilkenroth, M. Arslan‐Kirchner, J. Schmidtke, Dankwart Stiller (2008)
Marfan syndrome: clinical consequences resulting from a medicolegal autopsy of a case of sudden death due to aortic ruptureInternational Journal of Legal Medicine, 123
Yang Li, Ling Li, Hong-Shu Mu, Shuan-liang Fan, Fang-Gang He, Zhenyuan Wang (2015)
Aortic Dissection and Sudden Unexpected Deaths: A Retrospective Study of 31 Forensic Autopsy CasesJournal of Forensic Sciences, 60
G. Andelfinger, B. Loeys, H. Dietz (2016)
A Decade of Discovery in the Genetic Understanding of Thoracic Aortic Disease.The Canadian journal of cardiology, 32 1
R. Erbel, V. Aboyans, Catherine Boileau, Eduardo Bossone, Roberto Bartolomeo, Holger Eggebrecht, Arturo Evangelista, Volkmar Falk, Herbert Frank, Oliver Gaemperli, Martin Grabenwöger, A. Haverich, Bernard Iung, Athanasios Manolis, F. Meijboom, Christoph Nienaber, Marco Roffi, Hervé Rousseau, Udo Sechtem, Per Sirnes, Regula Allmen, Christiaan Vrints (2014)
Wytyczne ESC dotyczące rozpoznawania i leczenia chorób aorty w 2014 rokuKardiologia Polska, 72
M Montagnana, G Lippi, M Franchini, G Banfi, G Guidi (2008)
Sudden cardiac death in young athletesIntern Med, 47
Siddharth Prakash, S. Kuang, Ellen Regalado, D. Guo, D. Milewicz (2016)
Recurrent Rare Genomic Copy Number Variants and Bicuspid Aortic Valve Are Enriched in Early Onset Thoracic Aortic Aneurysms and DissectionsPLoS ONE, 11
James Robinson, H. Thorvaldsdóttir, W. Winckler, M. Guttman, E. Lander, G. Getz, J. Mesirov (2011)
Integrative Genomics ViewerNature biotechnology, 29
I. Adzhubei, S. Schmidt, L. Peshkin, V. Ramensky, A. Gerasimova, P. Bork, A. Kondrashov, S. Sunyaev (2010)
A method and server for predicting damaging missense mutationsNature methods, 7
C. Pua, Jaydutt Bhalshankar, Kui Miao, R. Walsh, S. John, Shiqi Lim, Kingsley Chow, R. Buchan, Bee Soh, P. Lio, Jaclyn Lim, S. Schafer, J. Lim, P. Tan, N. Whiffin, P. Barton, J. Ware, S. Cook (2016)
Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition GenesJournal of Cardiovascular Translational Research, 9
C. Hertz, S. Christiansen, L. Ferrero‐Miliani, Sarah Fordyce, M. Dahl, A. Holst, G. Ottesen, R. Frank-Hansen, H. Bundgaard, N. Morling (2015)
Next-generation sequencing of 34 genes in sudden unexplained death victims in forensics and in patients with channelopathic cardiac diseasesInternational Journal of Legal Medicine, 129
E. Isselbacher (2005)
Thoracic and Abdominal Aortic AneurysmsCirculation, 111
S. Bowdin, A. Laberge, A. Verstraeten, B. Loeys (2016)
Genetic Testing in Thoracic Aortic Disease--When, Why, and How?The Canadian journal of cardiology, 32 1
Lisa Albright, N. Camp, J. Farnham, J. Macdonald, Keyvan Abtin, K. Rowe (2003)
A genealogical assessment of heritable predisposition to aneurysms.Journal of neurosurgery, 99 4
L. Campens, M. Renard, B. Callewaert, P. Coucke, J. Backer, A. Paepe (2013)
New insights into the molecular diagnosis and management of heritable thoracic aortic aneurysms and dissections.Polskie Archiwum Medycyny Wewnetrznej, 123 12
D. Guo, S. Hasham, S. Kuang, C. Vaughan, E. Boerwinkle, Hua Chen, D. Abuelo, H. Dietz, C. Basson, S. Shete, D. Milewicz (2001)
Familial Thoracic Aortic Aneurysms and Dissections: Genetic Heterogeneity With a Major Locus Mapping to 5q13-14Circulation: Journal of the American Heart Association, 103
L. Hiratzka, G. Bakris, J. Beckman, R. Bersin, Vincent Carr, D. Casey, K. Eagle, Luke Hermann, E. Isselbacher, E. Kazerooni, N. Kouchoukos, B. Lytle, D. Milewicz, D. Reich, S. Sen, J. Shinn, L. Svensson, David Williams (2010)
2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the diagnosis and management of patients with thoracic aortic disease. A Report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, AmeJournal of the American College of Cardiology, 55 14
G. Jondeau, C. Boileau (2012)
Genetics of Thoracic Aortic AneurysmsCurrent Atherosclerosis Reports, 14
J. Elefteriades (2008)
Thoracic aortic aneurysm: reading the enemy's playbook.Current problems in cardiology, 33 5
Martin Kircher, D. Witten, Preti Jain, B. O’Roak, G. Cooper, J. Shendure (2014)
A general framework for estimating the relative pathogenicity of human genetic variantsNature genetics, 46
S Richards, N Aziz, S Bale, D Bick, S Das, J Gastier-Foster (2015)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular PathologyGenet Med, 17
T. Ripperger, H. Tröger, J. Schmidtke (2009)
The genetic message of a sudden, unexpected death due to thoracic aortic dissection.Forensic science international, 187 1-3
L. Hiratzka, G. Bakris, Joshua Beckman, Robert Bersin, Vincent Carr, Donald Casey, K. Eagle, Luke Hermann, E. Isselbacher, Ella Kazerooni, N. Kouchoukos, Bruce Lytle, D. Milewicz, David Reich, S. Sen, Julie Shinn, Lars Svensson, David Williams, A. Jacobs, Sidney Smith, Jeffery Anderson, C. Adams, Christopher Buller, M. Creager, S. Ettinger, Robert Guyton, J. Halperin, S. Hunt, H. Krumholz, F. Kushner, Rick Nishimura, B. Riegel, William Stevenson, L. Tarkington, C. Yancy (2010)
Guidelines for the Diagnosis and Management of Patients With Thoracic Aortic Disease
Exome Aggregation Consortium (ExAC), available from exac. broadinstitute.org/, and accessed
K. Luijtgaarden, D. Heijsman, A. Maugeri, M. Weiss, H. Verhagen, A. IJpma, H. Brüggenwirth, D. Majoor-Krakauer (2015)
First genetic analysis of aneurysm genes in familial and sporadic abdominal aortic aneurysmHuman Genetics, 134
Jana Schwarz, D. Cooper, M. Schuelke, D. Seelow (2014)
MutationTaster2: mutation prediction for the deep-sequencing ageNature Methods, 11
Hui Yang, Kai Wang (2015)
Genomic variant annotation and prioritization with ANNOVAR and wANNOVARNature Protocols, 10
Gregory Kuzmik, Adam Sang, J. Elefteriades (2012)
Natural history of thoracic aortic aneurysms.Journal of vascular surgery, 56 2
Matias Hannuksela, Eva-Lena Stattin, P. Nyberg, B. Carlberg (2014)
[Familial thoracic aortic aneurysms and dissections can be divided into three different main categories].Lakartidningen, 111 9-10
H. Pannu, V. Tran‐Fadulu, D. Milewicz (2005)
Genetic basis of thoracic aortic aneurysms and aortic dissectionsAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, 139C
O. Dapunt, J. Galla, A. Sadeghi, S. Lansman, C. Mezrow, R. Asla, C. Quintana, S. Wallenstein, A. Ergin, Randall Griepp (1994)
The natural history of thoracic aortic aneurysms.The Journal of thoracic and cardiovascular surgery, 107 5
Whitney Wooderchak-Donahue, Chad VanSant-Webb, T. Tvrdik, Parker Plant, Tracey Lewis, J. Stocks, J. Raney, L. Meyers, Alizabeth Berg, A. Rope, A. Yetman, S. Bleyl, R. Mesley, D. Bull, R. Collins, Mayra Ojeda, A. Roberts, R. Lacro, A. Woerner, J. Stoler, P. Bayrak-Toydemir (2015)
Clinical utility of a next generation sequencing panel assay for Marfan and Marfan‐like syndromes featuring aortopathyAmerican Journal of Medical Genetics Part A, 167
J Elefteriades (2008)
Thoracic aortic aneurysm: reading the enemy’s playbookYale J Biol Med, 81
Prateek Kumar, S. Henikoff, P. Ng (2009)
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithmNature Protocols, 4
M. Harakalova, J. Smagt, C. Kovel, R. Slot, M. Poot, I. Nijman, J. Medić, I. Joziasse, Jaap Deckers, J. Roos‐Hesselink, M. Wessels, H. Baars, M. Weiss, G. Pals, L. Golmard, X. Jeunemaître, D. Lindhout, E. Cuppen, A. Baas (2012)
Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosusEuropean Journal of Human Genetics, 21
J. Hirschhorn, M. Daly (2005)
Genome-wide association studies for common diseases and complex traitsNature Reviews Genetics, 6
Brendan Lee, Brendan Lee, G. Diaz, W. Rhead, U. Lichter-Konecki, A. Feigenbaum, S. Berry, C. Mons, J. Bartley, N. Longo, S. Nagamani, W. Berquist, R. Gallagher, D. Bartholomew, C. Harding, M. Korson, S. McCandless, Wendy Smith, S. Cederbaum, Derek Wong, J. Merritt, A. Schulze, J. Vockley, G. Vockley, D. Kronn, R. Zori, M. Summar, Douglas Milikien, M. Marino, D. Coakley, M. Mokhtarani, B. Scharschmidt (2014)
BLOOD AMMONIA AND GLUTAMINE AS PREDICTORS OF HYPERAMMONEMIC CRISES IN UREA CYCLE DISORDER PATIENTSGenetics in medicine : official journal of the American College of Medical Genetics, 17
Elisabeth Gillis, L. Laer, B. Loeys (2013)
Genetics of thoracic aortic aneurysm: at the crossroad of transforming growth factor-β signaling and vascular smooth muscle cell contractility.Circulation research, 113 3
M. Arslan‐Kirchner, E. Arbustini, C. Boileau, P. Charron, A. Child, G. Collod-Béroud, J. Backer, A. Paepe, A. Dierking, L. Faivre, S. Hoffjan, G. Jondeau, B. Keyser, B. Loeys, K. Mayer, P. Robinson, J. Schmidtke (2015)
Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approachesEuropean Journal of Human Genetics, 24
D. Milewicz, Dong-chuan Guo, V. Tran‐Fadulu, A. Lafont, Christina Papke, Sakiko Inamoto, Carrie Kwartler, H. Pannu (2008)
Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction.Annual review of genomics and human genetics, 9
S. Hasham, M. Lewin, V. Tran, H. Pannu, A. Muilenburg, M. Willing, D. Milewicz (2004)
Nonsyndromic genetic predisposition to aortic dissection: a newly recognized, diagnosable, and preventable occurrence in families.Annals of emergency medicine, 43 1
M. Brion, B. Sobrino, M. Martínez, A. Blanco-Verea, A. Carracedo, Angel Carracedo (2015)
Massive parallel sequencing applied to the molecular autopsy in sudden cardiac death in the young.Forensic science international. Genetics, 18
D. Halliday, S. Hutchinson, L. Lonie, J. Hurst, H. Firth, P. Handford, Paul Wordsworth (2002)
Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practiceJournal of Medical Genetics, 39
R Erbel, V Aboyans, C Boileau, E Bossone, R Di Bartolomeo, H Eggebrecht (2014)
ESC guidelines on the diagnosis and treatment of aortic diseasesEur Heart J, 35
M. Halushka, A. Angelini, G. Bartoloni, C. Basso, Lubov Batoroeva, P. Bruneval, L. Buja, J. Butany, G. d’Amati, J. Fallon, P. Gallagher, A. Groot, R. Gouveia, I. Kholová, K. Kelly, O. Leone, S. Litovsky, J. Maleszewski, Dylan Miller, R. Mitchell, S. Preston, A. Pucci, S. Radio, E. Rodriguez, M. Sheppard, J. Stone, S. Suvarna, Carmela Tan, G. Thiene, J. Veinot, A. Wal (2016)
Consensus statement on surgical pathology of the aorta from the Society for Cardiovascular Pathology and the Association For European Cardiovascular Pathology: II. Noninflammatory degenerative diseases - nomenclature and diagnostic criteria.Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology, 25 3
James Zou (2015)
Analysis of protein-coding genetic variation in 60,706 humansNature, 536
B. Meder, J. Haas, A. Keller, C. Heid, S. Just, A. Borries, Valesca Boisguérin, M. Scharfenberger-Schmeer, P. Stähler, M. Beier, D. Weichenhan, T. Strom, A. Pfeufer, B. Korn, H. Katus, W. Rottbauer (2011)
Targeted Next-Generation Sequencing for the Molecular Genetic Diagnostics of CardiomyopathiesCirculation: Cardiovascular Genetics, 4
Y. Imai, H. Morita, N. Takeda, F. Miya, H. Hyodo, Daishi Fujita, T. Tajima, T. Tsunoda, R. Nagai, M. Kubo, I. Komuro (2015)
A deletion mutation in myosin heavy chain 11 causing familial thoracic aortic dissection in two Japanese pedigrees.International journal of cardiology, 195
D. Patel (2011)
Sudden Cardiac Death in Young AthletesAsian Journal of Sports Medicine, 2
L Hiratzka, G Bakris, J Beckman, R Bersin, V Carr, D Casey (2010)
2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the diagnosis and management of patients with thoracic aortic diseaseJ Am Coll Cardiol, 55
D. Proost, G. Vandeweyer, J. Meester, S. Salemink, M. Kempers, Christie Ingram, N. Peeters, J. Saenen, C. Vrints, R. Lacro, D. Roden, W. Wuyts, H. Dietz, G. Mortier, B. Loeys, L. Laer (2015)
Performant Mutation Identification Using Targeted Next‐Generation Sequencing of 14 Thoracic Aortic Aneurysm GenesHuman Mutation, 36
H. Thorvaldsdóttir, James Robinson, J. Mesirov (2012)
Integrative Genomics Viewer (IGV): high-performance genomics data visualization and explorationBriefings in Bioinformatics, 14
A. Braverman (2015)
Heritable thoracic aortic aneurysm disease: recognizing phenotypes, exploring genotypes.Journal of the American College of Cardiology, 65 13
M. Coady, R. Davies, M. Roberts, L. Goldstein, M. Rogalski, J. Rizzo, G. Hammond, G. Kopf, J. Elefteriades (1999)
Familial patterns of thoracic aortic aneurysms.Archives of surgery, 134 4
Int J Legal Med (2017) 131:1211–1219 DOI 10.1007/s00414-017-1583-9 ORIGINAL ARTICLE Postmortem genetic testing should be recommended in sudden cardiac death cases due to thoracic aortic dissection 1,2 1,2 1,2,3 4 Marina Gago-Díaz & Eva Ramos-Luis & Silvia Zoppis & Esther Zorio & 5 6 7 2 2 Pilar Molina & Aitana Braza-Boïls & Juan Giner & Beatriz Sobrino & Jorge Amigo & 1,2 2,7 1,2,8 Alejandro Blanco-Verea & Ángel Carracedo & María Brion Received: 19 February 2017 /Accepted: 27 March 2017 /Published online: 8 April 2017 Springer-Verlag Berlin Heidelberg 2017 Abstract College of Medical Genetics and Genomics (ACMG) Background Acute thoracic aortic dissections and ruptures, recommendations published in 2015. All prioritized results the main life-threatening complications of the corresponding were confirmed by traditional sequencing. aneurysms, are an important cause of sudden cardiac death. Results From the total of 10 potentially pathogenic genetic Despite the usefulness of the molecular diagnosis of these variants identified in 7 out of the 17 initial samples, 2 of them conditions in the clinical setting, the corresponding forensic were further classified as pathogenic, 2 as likely pathogenic, 1 field remains largely unexplored. The main goal of this study as possibly benign, and the remaining 5
International Journal of Legal Medicine – Springer Journals
Published: Apr 8, 2017
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