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Acute stress-induced (takotsubo) cardiomyopathy or broken heart syndrome presents like a heart attack, classically is triggered by intense emotional or physical stress and can have serious health consequences. In the current study the investigators wish to establish whether there is a genetic predisposition making certain people more susceptible to this condition. This could also have implications for their families.
Acute stress-induced (takotsubo) cardiomyopathy presents like a myocardial infarct, is triggered by intense emotional or physical stress, and can have catastrophic and potentially fatal consequences. Despite data linking takotsubo cardiomyopathy with conditions that have a recognized genetic predisposition (such as mental health and neurological problems), a systematic and comprehensive characterisation of the genetic-epidemiologic factors in takotsubo is lacking. The researchers propose to further investigate this disorder by collecting blood from probands and characterising the genotype of patients with takotsubo cardiomyopathy in a large scale, nationwide genome wide association study. The investigators will also archive DNA for identification of future candidate genetic variants. Ultimately, understanding the underlying predisposition of this poorly understood neuro-psycho-cardiac disorder is essential if we are to move this field forward.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Takotsubo Case Arm | Other | A patient that has been diagnosed with Takotsubo Cardiomyopathy from 2010 onwards. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Blood collection for genetic analysis | Genetic | Blood collection for genetic analysis |
|
| Measure | Description | Time Frame |
|---|---|---|
| Genome Wide Association Study | Genome Wide Association Study to search for susceptibility variants | At baseline |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Amelia E Rudd, MSc | Contact | 01224559473 | 01224559473 | a.e.rudd@abdn.ac.uk |
| Name | Affiliation | Role |
|---|---|---|
| Dana K Dawson, MD, MPhil | University of Aberdeen | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Cardiac Research Office, Aberdeen Royal Infirmary | Recruiting | Aberdeen | Aberdeenshire | AB25 2ZD | United Kingdom |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 18294473 | Background | Prasad A, Lerman A, Rihal CS. Apical ballooning syndrome (Tako-Tsubo or stress cardiomyopathy): a mimic of acute myocardial infarction. Am Heart J. 2008 Mar;155(3):408-17. doi: 10.1016/j.ahj.2007.11.008. Epub 2008 Jan 31. | |
| 26332547 | Background | Templin C, Ghadri JR, Diekmann J, Napp LC, Bataiosu DR, Jaguszewski M, Cammann VL, Sarcon A, Geyer V, Neumann CA, Seifert B, Hellermann J, Schwyzer M, Eisenhardt K, Jenewein J, Franke J, Katus HA, Burgdorf C, Schunkert H, Moeller C, Thiele H, Bauersachs J, Tschope C, Schultheiss HP, Laney CA, Rajan L, Michels G, Pfister R, Ukena C, Bohm M, Erbel R, Cuneo A, Kuck KH, Jacobshagen C, Hasenfuss G, Karakas M, Koenig W, Rottbauer W, Said SM, Braun-Dullaeus RC, Cuculi F, Banning A, Fischer TA, Vasankari T, Airaksinen KE, Fijalkowski M, Rynkiewicz A, Pawlak M, Opolski G, Dworakowski R, MacCarthy P, Kaiser C, Osswald S, Galiuto L, Crea F, Dichtl W, Franz WM, Empen K, Felix SB, Delmas C, Lairez O, Erne P, Bax JJ, Ford I, Ruschitzka F, Prasad A, Luscher TF. Clinical Features and Outcomes of Takotsubo (Stress) Cardiomyopathy. N Engl J Med. 2015 Sep 3;373(10):929-38. doi: 10.1056/NEJMoa1406761. |
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| ID | Term |
|---|---|
| D054549 | Takotsubo Cardiomyopathy |
| ID | Term |
|---|---|
| D009202 | Cardiomyopathies |
| D006331 | Heart Diseases |
| D002318 | Cardiovascular Diseases |
| D018487 | Ventricular Dysfunction, Left |
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| ID | Term |
|---|---|
| D005820 | Genetic Testing |
| ID | Term |
|---|---|
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D008919 | Investigative Techniques |
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Single group observational study.
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| Cardiovascular Research Facility | Recruiting | Aberdeen | Aberdeenshire | AB25 2ZD | United Kingdom |
|
| 26990821 | Background | Stiermaier T, Moeller C, Oehler K, Desch S, Graf T, Eitel C, Vonthein R, Schuler G, Thiele H, Eitel I. Long-term excess mortality in takotsubo cardiomyopathy: predictors, causes and clinical consequences. Eur J Heart Fail. 2016 Jun;18(6):650-6. doi: 10.1002/ejhf.494. Epub 2016 Mar 14. |
| 23683950 | Background | Sy F, Basraon J, Zheng H, Singh M, Richina J, Ambrose JA. Frequency of Takotsubo cardiomyopathy in postmenopausal women presenting with an acute coronary syndrome. Am J Cardiol. 2013 Aug 15;112(4):479-82. doi: 10.1016/j.amjcard.2013.04.010. Epub 2013 May 16. |
| 26782339 | Background | Scally C, Ahearn T, Rudd A, Neil CJ, Srivanasan J, Jagpal B, Horowitz J, Frenneaux M, Dawson DK. Right Ventricular Involvement and Recovery After Acute Stress-Induced (Tako-tsubo) Cardiomyopathy. Am J Cardiol. 2016 Mar 1;117(5):775-80. doi: 10.1016/j.amjcard.2015.11.057. Epub 2015 Dec 13. |
| 25499134 | Background | Dawson DK, Neil CJ, Henning A, Cameron D, Jagpal B, Bruce M, Horowitz J, Frenneaux MP. Tako-Tsubo Cardiomyopathy: A Heart Stressed Out of Energy? JACC Cardiovasc Imaging. 2015 Aug;8(8):985-7. doi: 10.1016/j.jcmg.2014.10.004. Epub 2014 Nov 1. No abstract available. |
| 29128863 | Background | Scally C, Rudd A, Mezincescu A, Wilson H, Srivanasan J, Horgan G, Broadhurst P, Newby DE, Henning A, Dawson DK. Persistent Long-Term Structural, Functional, and Metabolic Changes After Stress-Induced (Takotsubo) Cardiomyopathy. Circulation. 2018 Mar 6;137(10):1039-1048. doi: 10.1161/CIRCULATIONAHA.117.031841. Epub 2017 Nov 11. |
| 27102508 | Background | Tornvall P, Collste O, Ehrenborg E, Jarnbert-Petterson H. A Case-Control Study of Risk Markers and Mortality in Takotsubo Stress Cardiomyopathy. J Am Coll Cardiol. 2016 Apr 26;67(16):1931-6. doi: 10.1016/j.jacc.2016.02.029. |
| 25099475 | Background | Sharkey SW, Maron BJ. Epidemiology and clinical profile of Takotsubo cardiomyopathy. Circ J. 2014;78(9):2119-28. doi: 10.1253/circj.cj-14-0770. Epub 2014 Aug 5. |
| 15547001 | Background | Pison L, De Vusser P, Mullens W. Apical ballooning in relatives. Heart. 2004 Dec;90(12):e67. doi: 10.1136/hrt.2004.046813. |
| 19375184 | Background | Kumar G, Holmes DR Jr, Prasad A. "Familial" apical ballooning syndrome (Takotsubo cardiomyopathy). Int J Cardiol. 2010 Oct 29;144(3):444-5. doi: 10.1016/j.ijcard.2009.03.078. Epub 2009 Apr 17. |
| 23561588 | Background | Sharkey SW, Lips DL, Pink VR, Maron BJ. Daughter-mother tako-tsubo cardiomyopathy. Am J Cardiol. 2013 Jul 1;112(1):137-8. doi: 10.1016/j.amjcard.2013.02.063. Epub 2013 Apr 2. |
| 25743177 | Background | Caretta G, Robba D, Vizzardi E, Bonadei I, Raddino R, Metra M. Tako-tsubo cardiomyopathy in two sisters: a chance finding or familial predisposition? Clin Res Cardiol. 2015 Jul;104(7):614-6. doi: 10.1007/s00392-015-0837-0. Epub 2015 Mar 6. No abstract available. |
| 23563753 | Background | Ikutomi M, Yamasaki M, Matsusita M, Watari Y, Arashi H, Endo G, Yamaguchi J, Ohnishi S. Takotsubo cardiomyopathy in siblings. Heart Vessels. 2014 Jan;29(1):119-22. doi: 10.1007/s00380-013-0345-y. Epub 2013 Apr 7. |
| 15703419 | Background | Wittstein IS, Thiemann DR, Lima JA, Baughman KL, Schulman SP, Gerstenblith G, Wu KC, Rade JJ, Bivalacqua TJ, Champion HC. Neurohumoral features of myocardial stunning due to sudden emotional stress. N Engl J Med. 2005 Feb 10;352(6):539-48. doi: 10.1056/NEJMoa043046. |
| 25132214 | Background | Goodloe AH, Evans JM, Middha S, Prasad A, Olson TM. Characterizing genetic variation of adrenergic signalling pathways in Takotsubo (stress) cardiomyopathy exomes. Eur J Heart Fail. 2014 Sep;16(9):942-9. doi: 10.1002/ejhf.145. Epub 2014 Aug 8. |
| 23794609 | Background | Figtree GA, Bagnall RD, Abdulla I, Buchholz S, Galougahi KK, Yan W, Tan T, Neil C, Horowitz JD, Semsarian C, Ward MR. No association of G-protein-coupled receptor kinase 5 or beta-adrenergic receptor polymorphisms with Takotsubo cardiomyopathy in a large Australian cohort. Eur J Heart Fail. 2013 Jul;15(7):730-3. doi: 10.1093/eurjhf/hft040. |
| 19167638 | Background | Sharkey SW, Maron BJ, Nelson P, Parpart M, Maron MS, Bristow MR. Adrenergic receptor polymorphisms in patients with stress (tako-tsubo) cardiomyopathy. J Cardiol. 2009 Feb;53(1):53-7. doi: 10.1016/j.jjcc.2008.08.006. Epub 2008 Oct 9. |
| 28108127 | Background | Eitel I, Moeller C, Munz M, Stiermaier T, Meitinger T, Thiele H, Erdmann J. Genome-wide association study in takotsubo syndrome - Preliminary results and future directions. Int J Cardiol. 2017 Jun 1;236:335-339. doi: 10.1016/j.ijcard.2017.01.093. Epub 2017 Jan 15. |
| 28714975 | Background | Nelson CP, Goel A, Butterworth AS, Kanoni S, Webb TR, Marouli E, Zeng L, Ntalla I, Lai FY, Hopewell JC, Giannakopoulou O, Jiang T, Hamby SE, Di Angelantonio E, Assimes TL, Bottinger EP, Chambers JC, Clarke R, Palmer CNA, Cubbon RM, Ellinor P, Ermel R, Evangelou E, Franks PW, Grace C, Gu D, Hingorani AD, Howson JMM, Ingelsson E, Kastrati A, Kessler T, Kyriakou T, Lehtimaki T, Lu X, Lu Y, Marz W, McPherson R, Metspalu A, Pujades-Rodriguez M, Ruusalepp A, Schadt EE, Schmidt AF, Sweeting MJ, Zalloua PA, AlGhalayini K, Keavney BD, Kooner JS, Loos RJF, Patel RS, Rutter MK, Tomaszewski M, Tzoulaki I, Zeggini E, Erdmann J, Dedoussis G, Bjorkegren JLM; EPIC-CVD Consortium; CARDIoGRAMplusC4D; UK Biobank CardioMetabolic Consortium CHD working group; Schunkert H, Farrall M, Danesh J, Samani NJ, Watkins H, Deloukas P. Association analyses based on false discovery rate implicate new loci for coronary artery disease. Nat Genet. 2017 Sep;49(9):1385-1391. doi: 10.1038/ng.3913. Epub 2017 Jul 17. |
| 26343387 | Background | Nikpay M, Goel A, Won HH, Hall LM, Willenborg C, Kanoni S, Saleheen D, Kyriakou T, Nelson CP, Hopewell JC, Webb TR, Zeng L, Dehghan A, Alver M, Armasu SM, Auro K, Bjonnes A, Chasman DI, Chen S, Ford I, Franceschini N, Gieger C, Grace C, Gustafsson S, Huang J, Hwang SJ, Kim YK, Kleber ME, Lau KW, Lu X, Lu Y, Lyytikainen LP, Mihailov E, Morrison AC, Pervjakova N, Qu L, Rose LM, Salfati E, Saxena R, Scholz M, Smith AV, Tikkanen E, Uitterlinden A, Yang X, Zhang W, Zhao W, de Andrade M, de Vries PS, van Zuydam NR, Anand SS, Bertram L, Beutner F, Dedoussis G, Frossard P, Gauguier D, Goodall AH, Gottesman O, Haber M, Han BG, Huang J, Jalilzadeh S, Kessler T, Konig IR, Lannfelt L, Lieb W, Lind L, Lindgren CM, Lokki ML, Magnusson PK, Mallick NH, Mehra N, Meitinger T, Memon FU, Morris AP, Nieminen MS, Pedersen NL, Peters A, Rallidis LS, Rasheed A, Samuel M, Shah SH, Sinisalo J, Stirrups KE, Trompet S, Wang L, Zaman KS, Ardissino D, Boerwinkle E, Borecki IB, Bottinger EP, Buring JE, Chambers JC, Collins R, Cupples LA, Danesh J, Demuth I, Elosua R, Epstein SE, Esko T, Feitosa MF, Franco OH, Franzosi MG, Granger CB, Gu D, Gudnason V, Hall AS, Hamsten A, Harris TB, Hazen SL, Hengstenberg C, Hofman A, Ingelsson E, Iribarren C, Jukema JW, Karhunen PJ, Kim BJ, Kooner JS, Kullo IJ, Lehtimaki T, Loos RJF, Melander O, Metspalu A, Marz W, Palmer CN, Perola M, Quertermous T, Rader DJ, Ridker PM, Ripatti S, Roberts R, Salomaa V, Sanghera DK, Schwartz SM, Seedorf U, Stewart AF, Stott DJ, Thiery J, Zalloua PA, O'Donnell CJ, Reilly MP, Assimes TL, Thompson JR, Erdmann J, Clarke R, Watkins H, Kathiresan S, McPherson R, Deloukas P, Schunkert H, Samani NJ, Farrall M; New Collective Author. A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease. Nat Genet. 2015 Oct;47(10):1121-1130. doi: 10.1038/ng.3396. Epub 2015 Sep 7. |
| D018754 |
| Ventricular Dysfunction |
| D005821 | Genetic Techniques |
| D033142 | Genetic Services |
| D006296 | Health Services |
| D005159 | Health Care Facilities Workforce and Services |
| D003954 | Diagnostic Services |
| D011314 | Preventive Health Services |