Takotsubo Syndrome and Its Genetic Relationship: Case Report and Narrative Literature Review

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  •   Natalia Ferrari

  •   Mariana Gomes de Oliveira Santos

  •   Marcela Rodrigues da Cunha Alvarenga

  •   Leticia Peres Moraes

  •   Dafane Lima Miguel

  •   Melchior Moser

  •   Flavio Quessada

Abstract


Introduction: Takotsubo Syndrome (TTS) is presented as a temporary loss of systolic function, it is usually associated with emotional or physical stress. However, its pathophysiology is not well defined. Thus, this article seeks the relationship between the genetic factor and the development of Takotsubo Syndrome. 




Methodology: The study is about a narrative review and two case reports on TTS. 




Results: TTS is related to the excess of catecholamines, and its genetic linkage is strongly considered due to recent studies where occasionally it has been noticed its hereditary connections, such as: increased cardiac sensitivity to catecholamines and cardiac vulnerability to adrenergic stressors, impaired regulation of norepinephrine release, syndrome fragile X, and CD36 deficiency. 




Discussion: There is still no conclusion of the leading factors to TTS. However, being female, being in the postmenopausal period, and exposed to stressful conditions are some of the risk factors that can develop the disease, and which are better accepted by the scientific community.




Conclusions: Although TTS is a disease of low prevalence, it is increasingly present in the routine of the cardiologist. The great difficulty lies in its diagnosis as it does not present a pathognomonic symptom and it is similar to other diseases, such as ACS. This causes it to pass absent-mindedly during the emergency primary investigation. Thus, there is a need to expand studies related to this disease and to investigate its genetic association.



Keywords: Cardiology, differential diagnosis, Takotsubo cardiomyopathy

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How to Cite
Ferrari, N., Santos, M. G. de O. ., Alvarenga, M. R. da C. ., Moraes, L. P., Miguel, D. L., Moser, M., & Quessada, F. (2022). Takotsubo Syndrome and Its Genetic Relationship: Case Report and Narrative Literature Review. European Journal of Clinical Medicine, 3(5), 5–10. https://doi.org/10.24018/clinicmed.2022.3.5.230

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