Takotsubo综合征及其遗传关系:病例报告及叙事文献综述

Natália Ferrari, M. O. Santos, Marcela Rodrigues da Cunha Alvarenga, Letícia Peres Moraes, Dáfane Lima Miguel, Melchior Moser, Flavio Quessada
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摘要

Takotsubo综合征(TTS)表现为暂时的收缩功能丧失,通常与情绪或身体压力有关。然而,其病理生理机制尚不明确。因此,本文寻求遗传因素与Takotsubo综合征发生的关系。研究方法:本研究是关于TTS的一篇叙述性回顾和两篇病例报告。结果:TTS与儿茶酚胺过量有关,其遗传联系被强烈考虑,因为最近的研究偶尔注意到其遗传联系,例如:心脏对儿茶酚胺的敏感性增加和心脏对肾上腺素能应激源的易感性,去甲肾上腺素释放调节受损,脆性X综合征和CD36缺乏症。讨论:目前对TTS的主导因素尚无定论。然而,作为女性,处于绝经后时期,并暴露于压力条件下是可能患这种疾病的一些风险因素,这些因素已被科学界更好地接受。结论:虽然TTS是一种低患病率的疾病,但它越来越多地出现在心脏病专家的日常工作中。它的诊断困难很大,因为它没有表现出病理症状,而且与其他疾病(如ACS)相似。这导致它在紧急初级调查期间被漫不经心地通过。因此,有必要扩大与该疾病相关的研究并调查其遗传关联。
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Takotsubo Syndrome and Its Genetic Relationship: Case Report and Narrative Literature Review
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.
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