Department of Biomedicine and Prevention, University of Rome Tor Vergata, Via Montpellier 1, 00133 Rome, Italy.
Tumor Immunology Unit, Department of Health Sciences, University of Palermo, 90134 Palermo, Italy.
Int J Mol Sci. 2021 Sep 13;22(18):9875. doi: 10.3390/ijms22189875.
Takotsubo syndrome (TTS), recognized as stress's cardiomyopathy, or as left ventricular apical balloon syndrome in recent years, is a rare pathology, described for the first time by Japanese researchers in 1990. TTS is characterized by an interindividual heterogeneity in onset and progression, and by strong predominance in postmenopausal women. The clear causes of these TTS features are uncertain, given the limited understanding of this intriguing syndrome until now. However, the increasing frequency of TTS cases in recent years, and particularly correlated to the SARS-CoV-2 pandemic, leads us to the imperative necessity both of a complete knowledge of TTS pathophysiology for identifying biomarkers facilitating its management, and of targets for specific and effective treatments. The suspect of a genetic basis in TTS pathogenesis has been evidenced. Accordingly, familial forms of TTS have been described. However, a systematic and comprehensive characterization of the genetic or epigenetic factors significantly associated with TTS is lacking. Thus, we here conducted a systematic review of the literature before June 2021, to contribute to the identification of potential genetic and epigenetic factors associated with TTS. Interesting data were evidenced, but few in number and with diverse limitations. Consequently, we concluded that further work is needed to address the gaps discussed, and clear evidence may arrive by using multi-omics investigations.
心尖球囊样综合征（TTS），近年来被认为是应激性心肌病，或左心室心尖球囊综合征，是一种罕见的病理学，于 1990 年由日本研究人员首次描述。TTS 的发作和进展具有个体间的异质性，并且在绝经后妇女中占很大比例。鉴于目前对这一有趣综合征的了解有限，这些 TTS 特征的明确原因尚不确定。然而，近年来 TTS 病例的频率不断增加，特别是与 SARS-CoV-2 大流行相关，这使得我们不仅有必要全面了解 TTS 的病理生理学，以确定有助于其管理的生物标志物，而且有必要确定特定和有效的治疗靶点。TTS 发病机制中存在遗传基础的嫌疑已经得到证实。因此，已经描述了 TTS 的家族形式。然而，与 TTS 显著相关的遗传或表观遗传因素的系统和全面表征仍然缺乏。因此，我们在此对截至 2021 年 6 月的文献进行了系统回顾，以有助于确定与 TTS 相关的潜在遗传和表观遗传因素。虽然有证据表明存在有趣的数据，但数量很少且存在各种局限性。因此，我们得出结论，需要进一步的工作来解决所讨论的差距，并且通过使用多组学研究可能会得到明确的证据。
