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Approved research

Genome-wide association study of takotsubo syndrome

Principal Investigator: Professor Per Tornvall
Approved Research ID: 45735
Approval date: June 18th 2019

Lay summary

Myocardial infarction is a major cause of death and disability worldwide. Approximately 2% of all myocardial infarctions are believed to be caused by takotsubo syndrome also known as takotsubo cardiomyopathy, broken heart syndrome or stress-induced cardiomyopathy. Takotsubo syndrome predominantly affects women (only 10% are men) and is often preceded by an emotional or physical trigger (67%).The disease is an acute non-ischemic cardiomyopathy characterized by transient regional systolic dysfunction of the left and/or right ventricle with unknown aetiology. There is no international consensus on the diagnostic criteria for takotsubo syndrome, which derives its' name from the Japanese word takotsubo ('octopus pot'). Generally it has been recognized as a benign disorder, however patients are at risk for recurrence even years after the first event, and data on in-hospital and long-term outcomes are limited, but long-term prognosis is probably worse than previously expected. The mechanisms behind takotsubo syndrome are largely unknown, but is most likely due to effects of stress on the heart, either as increased circulating stress hormones or by increased sympathetic nerve stress. Interestingly, takotsubo syndrome is seen in families, including monozygotic twins. This together with a fairly high recurrence rate (1-2 % per year) suggests a genetic predisposition. The importance of a genetic influence remains to be fully understood. Conflicting results have been published in small studies regarding the presence or absence of genetic variants in relevant candidate genes,. The aim of this study is to conduct a large genetic study in patients with takotsubo syndrome to identify potential genetic risk variants involved in the disease. Patients (cases) with takotsubo syndrome will be recruited from the Swedish Coronary Angiography and Angioplasty Register and compared with matched controls from the UK biobank. The present project will add valuable information about the potential role of genetics in takotsubo syndrome. Information that can be used regarding risk prediction and novel targets for treatment. Furthermore, there is an important gender perspective in the project since takotsubo syndrome, affects women in contrast to myocardial infarction due to coronary artery disease.