Enrichment of Rare Variants in Loeys-Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular Dysplasia

被引：38

作者：

Verstraeten, Aline ^{[1
,2
]}

Perik, Melanie H. A. M. ^{[1
,2
]}

Baranowska, Anna A. ^{[1
,2
,3
]}

Meester, Josephina A. N. ^{[1
,2
]}

Van Den Heuvel, Lotte ^{[1
,2
]}

Bastianen, Jarl ^{[1
,2
]}

Kempers, Marlies ^{[4
]}

Krapels, Ingrid P. C. ^{[6
]}

Maas, Angela ^{[5
]}

Rideout, Andrea ^{[8
]}

Vandersteen, Anthony ^{[8
,9
]}

Sobey, Glenda ^{[10
]}

Johnson, Diana ^{[10
]}

Fransen, Erik ^{[1
,2
,11
]}

Ghali, Neeti

Webb, Tom ^{[3
]}

Al-Hussaini, Abtehale ^{[3
]}

de Leeuw, Peter ^{[7
]}

Delmotte, Philippe ^{[13
]}

Lopez-Sublet, Marilucy ^{[14
]}

Pappaccogli, Marco ^{[15
,17
,18
]}

Sprynger, Muriel ^{[15
,19
]}

Toubiana, Laurent ^{[20
]}

Van Laer, Lut

Van Dijk, Fleur S. ^{[12
]}

Vikkula, Miikka ^{[16
]}

Samani, Nilesh J. ^{[3
]}

Persu, Alexandre

Adlam, David ^{[3
]}

Loeys, Bart ^{[4
]}

机构：

[1] Univ Antwerp, Ctr Med Genet, Antwerp, Belgium

[2] Antwerp Univ Hosp, Antwerp, Belgium

[3] Glenfield Hosp, Dept Cardiovasc Sci, Leicester, Leics, England

[4] Radboud Univ Nijmegen, Nijmegen Med Ctr, Dept Human Genet, Nijmegen, Netherlands

[5] Radboud Univ Nijmegen, Nijmegen Med Ctr, Dept Cardiol, Nijmegen, Netherlands

[6] Maastricht Univ, Med Ctr, Dept Clin Genet, Maastricht, Netherlands

[7] Maastricht Univ, Med Ctr, Dept Med, Maastricht, Netherlands

[8] Izaak Walton Killam IWK Hlth Ctr, Maritime Med Genet Serv, Halifax, NS, Canada

[9] Dalhousie Univ, Dept Pediat, Div Med Genet, Halifax, NS, Canada

[10] Northern Gen Hosp, Sheffield Clin Genet Dept, Ehlers Danlos Syndrome Natl Diagnost Serv, Sheffield, S Yorkshire, England

[11] Univ Antwerp, StatUa Ctr Stat, Antwerp, Belgium

[12] Northwick Pk & St Marks Hosp, Ehlers Danlos Syndrome Natl Diagnost Serv, Harrow, Middx, England

[13] FS Ctr Hosp Univ Ambroise, Div Cardiol, Mons, Belgium

[14] CHU Avicenne, AP HP, Dept Internal Med, European Soc Hypertens Excellence Ctr, Bobigny, France

[15] Clin Univ St Luc, Div Cardiol, Inst Rech Expt & Clin, Pole Cardiovasc Res, Brussels, Belgium

[16] Catholic Univ Louvain, Human Mol Genet, Duve Inst, Brussels, Belgium

[17] Univ Turin, Div Internal Med, Dept Med Sci, Turin, Italy

[18] Univ Turin, Hypertens Unit, Dept Med Sci, Turin, Italy

[19] Univ Liege Hosp, Dept Cardiol, Liege, Belgium

[20] Univ Paris 13, Sorbonne Paris Cite, Sorbonne Univ, INSERM,UMR S 1142,LIMICS,Inst Rech Valorisat Donn, Paris, France

来源：

CIRCULATION | 2020年 / 142卷 / 10期

基金：

欧洲研究理事会;

关键词：

coronary artery disease; fibromuscular dysplasia; genetics; Loeys-Dietz syndrome;

D O I：

10.1161/CIRCULATIONAHA.120.045946

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：1021 / 1024

页数：4

共 5 条

[1] Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections [J].

Bertoli-Avella, Aida M. ;

Gillis, Elisabeth ;

Morisaki, Hiroko ;

Verhagen, Judith M. A. ;

de Graaf, Bianca M. ;

van de Beek, Gerarda ;

Gallo, Elena ;

Kruithof, Boudewijn P. T. ;

Venselaar, Hanka ;

Myers, Loretha A. ;

Laga, Steven ;

Doyle, Alexander J. ;

Oswald, Gretchen ;

van Cappellen, Gert W. A. ;

Yamanaka, Itaru ;

van der Helm, Robert M. ;

Beverloo, Berna ;

de Klein, Annelies ;

Pardo, Luba ;

Lammens, Martin ;

Evers, Christina ;

Devriendt, Koenraad ;

Dumoulein, Michiel ;

Timmermans, Janneke ;

Bruggenwirth, Hennie T. ;

Verheijen, Frans ;

Rodrigus, Inez ;

Baynam, Gareth ;

Kempers, Marlies ;

Saenen, Johan ;

Van Craenenbroeck, Emeline M. ;

Minatoya, Kenji ;

Matsukawa, Ritsu ;

Tsukube, Takuro ;

Kubo, Noriaki ;

Hofstra, Robert ;

Goumans, Marie Jose ;

Bekkers, Jos A. ;

Roos-Hesselink, Jolien W. ;

van de laar, Ingrid M. B. H. ;

Dietz, Harry C. ;

Van Laer, Lut ;

Morisaki, Takayuki ;

Wessels, Marja W. ;

Loeys, Bart L. .

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2015, 65 (13) :1324-1336

[2] Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor [J].

Gillis, Elisabeth ;

Kumar, Ajay A. ;

Luyckx, Ilse ;

Preuss, Christoph ;

Cannaerts, Elyssa ;

van de Beek, Gerarda ;

Wieschendorf, Bjoern ;

Alaerts, Maaike ;

Bolar, Nikhita ;

Vandeweyer, Geert ;

Meester, Josephina ;

Wuennemann, Florian ;

Gould, Russell A. ;

Zhurayev, Rustam ;

Zerbino, Dmytro ;

Mohamed, Salah A. ;

Mital, Seema ;

Mertens, Luc ;

Bjoerck, Hanna M. ;

Franco-Cereceda, Anders ;

McCallion, Andrew S. ;

Van Laer, Lut ;

Verhagen, Judith M. A. ;

van de laar, Ingrid M. B. H. ;

Wessels, Marja W. ;

Messas, Emmanuel ;

Goudot, Guillaume ;

Nemcikova, Michaela ;

Krebsova, Alice ;

Kempers, Marlies ;

Salemink, Simone ;

Duijnhouwer, Toon ;

Jeunemaitre, Xavier ;

Albuisson, Juliette ;

Eriksson, Per ;

Andelfinger, Gregor ;

Dietz, Harry C. ;

Verstraeten, Aline ;

Loeys, Bart L. .

FRONTIERS IN PHYSIOLOGY, 2017, 8

[3] Spontaneous Coronary Artery Dissection: Current State of the Science A Scientific Statement From the American Heart Association [J].

Hayes, Sharonne N. ;

Kim, Esther S. H. ;

Saw, Jacqueline ;

Adlam, David ;

Arslanian-Engoren, Cynthia ;

Economy, Katherine E. ;

Ganesh, Santhi K. ;

Gulati, Rajiv ;

Lindsay, Mark E. ;

Mieres, Jennifer H. ;

Naderi, Sahar ;

Shah, Svati ;

Thaler, David E. ;

Tweet, Marysia S. ;

Wood, Malissa J. .

CIRCULATION, 2018, 137 (19) :E523-E557

[4] Spontaneous coronary artery dissections and fibromuscular dysplasia: Current insights on pathophysiology, sex and gender [J].

Maas, Angela H. E. M. ;

Bouatia-Naji, Nabila ;

Persu, Alexandre ;

Adlam, David .

INTERNATIONAL JOURNAL OF CARDIOLOGY, 2019, 286 :220-225

[5] Low yield of genetic testing for known vascular connective tissue disorders in patients with fibromuscular dysplasia [J].

Poloskey, Stacey L. ;

Kim, Esther S. H. ;

Sanghani, Ruchi ;

Al-Quthami, Adeeb H. ;

Arscott, Patricia ;

Moran, Rocio ;

Rigelsky, Christina M. ;

Gornik, Heather L. .

VASCULAR MEDICINE, 2012, 17 (06) :371-378

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