- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT04513054
Is There a Genetic Predisposition for Acute Stress-induced (Takotsubo) Cardiomyopathy (GENETIC)
April 29, 2026 updated by: University of Aberdeen
Is There a Genetic Predisposition for Acute Stress-induced (Takotsubo) Cardiomyopathy: The GENETIC Study
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.
Study Overview
Status
Recruiting
Conditions
Intervention / Treatment
Detailed Description
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.
Study Type
Interventional
Enrollment (Estimated)
700
Phase
- Not Applicable
Contacts and Locations
This section provides the contact details for those conducting the study, and information on where this study is being conducted.
Study Contact
- Name: Amelia E Rudd, MSc
- Phone Number: 01224559473 01224559473
- Email: a.e.rudd@abdn.ac.uk
Study Locations
-
-
Aberdeenshire
-
Aberdeen, Aberdeenshire, United Kingdom, AB25 2ZD
- Recruiting
- Cardiovascular Research Facility
-
Contact:
- Amelia Rudd, MSc
- Phone Number: 01224559473 01224559473
- Email: a.e.rudd@abdn.ac.uk
-
Aberdeen, Aberdeenshire, United Kingdom, AB25 2ZD
- Recruiting
- Cardiac Research Office, Aberdeen Royal Infirmary
-
Contact:
- Amelia Rudd, HND
- Phone Number: 01224 559573
- Email: a.e.rudd@abdn.ac.uk
-
Contact:
- Dana Dawson, PhD
- Phone Number: 01224 437969
- Email: dana.dawson@abdn.ac.uk
-
-
Participation Criteria
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
Eligibility Criteria
Ages Eligible for Study
- Child
- Adult
- Older Adult
Accepts Healthy Volunteers
No
Description
Inclusion Criteria:
- All patients who have been diagnosed with Takotsubo cardiomyopathy in Scotland between 2010 to date.
- Familial cases elsewhere in the world who would be willing to participate.
Exclusion Criteria:
- Unwillingness to participate
Study Plan
This section provides details of the study plan, including how the study is designed and what the study is measuring.
How is the study designed?
Design Details
- Primary Purpose: Other
- Allocation: N/A
- Interventional Model: Single Group Assignment
- Masking: None (Open Label)
Arms and Interventions
Participant Group / Arm |
Intervention / Treatment |
|---|---|
|
Other: Takotsubo Case Arm
A patient that has been diagnosed with Takotsubo Cardiomyopathy from 2010 onwards.
|
Blood collection for genetic analysis
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
|---|---|---|
|
Genome Wide Association Study
Time Frame: At baseline
|
Genome Wide Association Study to search for susceptibility variants
|
At baseline
|
Collaborators and Investigators
This is where you will find people and organizations involved with this study.
Sponsor
Investigators
- Principal Investigator: Dana K Dawson, MD, MPhil, University of Aberdeen
Publications and helpful links
The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.
General Publications
- 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.
- 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.
- Pison L, De Vusser P, Mullens W. Apical ballooning in relatives. Heart. 2004 Dec;90(12):e67. doi: 10.1136/hrt.2004.046813.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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. 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
Study record dates
These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.
Study Major Dates
Study Start (Actual)
March 12, 2019
Primary Completion (Estimated)
December 31, 2028
Study Completion (Estimated)
December 31, 2028
Study Registration Dates
First Submitted
August 3, 2020
First Submitted That Met QC Criteria
August 11, 2020
First Posted (Actual)
August 14, 2020
Study Record Updates
Last Update Posted (Actual)
April 30, 2026
Last Update Submitted That Met QC Criteria
April 29, 2026
Last Verified
April 1, 2026
More Information
Terms related to this study
Additional Relevant MeSH Terms
- Cardiovascular Diseases
- Heart Diseases
- Cardiomyopathies
- Ventricular Dysfunction
- Ventricular Dysfunction, Left
- Takotsubo Cardiomyopathy
- Investigative Techniques
- Clinical Laboratory Techniques
- Diagnostic Techniques and Procedures
- Diagnosis
- Health Services
- Health Care Facilities Workforce and Services
- Preventive Health Services
- Genetic Techniques
- Genetic Services
- Diagnostic Services
- Genetic Testing
Other Study ID Numbers
- 2-025-18
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
NO
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
No
Studies a U.S. FDA-regulated device product
No
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
Clinical Trials on Takotsubo Cardiomyopathy
-
Weill Medical College of Cornell UniversityRecruiting
-
University Hospital of FerraraTerminatedTakotsubo Cardiomyopathy | Takotsubo SyndromeItaly
-
University of EdinburghRecruitingTakotsubo CardiomyopathyUnited Kingdom
-
University of Missouri-ColumbiaTerminatedCardiomyopathyUnited States
-
University of AberdeenNHS GrampianCompletedTako-tsubo CardiomyopathyUnited Kingdom
-
University Hospital HeidelbergGerman Centre of Cardiovascular Research (DZHK); Coordinating Centre for Clinical...Recruiting
-
University of AberdeenBritish Heart FoundationCompletedTakotsubo CardiomyopathyUnited Kingdom
-
Prof. Dr. med. Ingo EitelUniversity of FoggiaRecruiting
-
Cedars-Sinai Medical CenterRecruitingTakotsubo CardiomyopathyUnited States
-
Wolfgang Dichtl, MD PhDCompleted
Clinical Trials on Blood collection for genetic analysis
-
Chunxiu GongThe First Affiliated Hospital with Nanjing Medical University; Tongji Hospital and other collaboratorsNot yet recruitingGenetic Diseases, Inborn | Small for Gestational Age Infant | Silver-Russell Syndrome
-
University of Sao Paulo General HospitalRecruitingMicrobial Colonization | Amyloidosis, Hereditary, Transthyretin-RelatedBrazil
-
University Hospital, Clermont-FerrandHeart and Research Foundation; French Coronary Atheroma and Interventional...CompletedSpontaneous Coronary Artery Dissection | Spontaneous Coronary Artery HaematomaFrance
-
University Hospital, MontpellierA*STAR Infectious Diseases Labs; Institut de Recherche en Infectiologie de...CompletedRare Genetic Disease | Acute Necrotizing EncephalopathyFrance
-
University Hospital TuebingenRecruitingGenetic Predisposition to Disease | Rare DiseasesGermany
-
University of UtahDepartment of Health and Human ServicesCompletedLow Birth Weight | Immunodeficiency | Small for Gestational AgeUnited States
-
Fondazione IRCCS Ca' Granda, Ospedale Maggiore...RecruitingVon Willebrand Disease (VWD) | Acquired Von Willebrand DiseaseItaly
-
Samsung Medical CenterRecruiting
-
University Hospital, AngersUnknownAcute Lymphoblastic Leukemia | Nephroblastoma | Hepatic Veno-Occlusive DiseaseFrance
-
Mayo ClinicNational Cancer Institute (NCI)CompletedMalignant Solid Neoplasm | Breast Carcinoma | Digestive System Neoplasm | Skin Carcinoma | Malignant Female Reproductive System Neoplasm | Metastatic Malignant Neoplasm of Unknown Primary | Malignant Head and Neck Neoplasm | Malignant Brain Neoplasm | Malignant Central Nervous System Neoplasm | Malignant... and other conditionsUnited States