Severino Paolo, D'Amato Andrea, Prosperi Silvia, Myftari Vincenzo, Colombo Lorenzo, Tomarelli Elisa, Piccialuti Alice, Di Pietro Gianluca, Birtolo Lucia Ilaria, Maestrini Viviana, Badagliacca Roberto, Sardella Gennaro, Fedele Francesco, Vizza Carmine Dario, Mancone Massimo
Department of Clinical, Internal, Anesthesiology and Cardiovascular Sciences, Sapienza University of Rome, Viale del Policlinico, 155, 00161 Rome, Italy.
J Clin Med. 2023 May 21;12(10):3586. doi: 10.3390/jcm12103586.
Among the most common causes of death worldwide, ischemic heart disease (IHD) is recognized to rank first. Even if atherosclerotic disease of the epicardial arteries is known as the leading cause of IHD, the presence of myocardial infarction with non-obstructive coronary artery disease (MINOCA) is increasingly recognized. Notwithstanding the increasing interest, MINOCA remains a puzzling clinical entity that can be classified by distinguishing different underlying mechanisms, which can be divided into atherosclerotic and non-atherosclerotic. In particular, coronary microvascular dysfunction (CMD), classifiable in non-atherosclerotic mechanisms, is a leading factor for the pathophysiology and prognosis of patients with MINOCA. Genetic susceptibility may have a role in primum movens in CMD. However, few results have been obtained for understanding the genetic mechanisms underlying CMD. Future studies are essential in order to find a deeper understanding of the role of multiple genetic variants in the genesis of microcirculation dysfunction. Progress in research would allow early identification of high-risk patients and the development of pharmacological, patient-tailored strategies. The aim of this review is to revise the pathophysiology and underlying mechanisms of MINOCA, focusing on CMD and actual knowledge about genetic predisposition to it.
在全球最常见的死因中,缺血性心脏病(IHD)被认为位居首位。即使已知心外膜动脉的动脉粥样硬化疾病是IHD的主要原因,但非阻塞性冠状动脉疾病(MINOCA)所致心肌梗死的情况也越来越受到认可。尽管关注度不断提高,但MINOCA仍然是一个令人困惑的临床实体,可通过区分不同的潜在机制进行分类,这些机制可分为动脉粥样硬化性和非动脉粥样硬化性。特别是,可归类于非动脉粥样硬化机制的冠状动脉微血管功能障碍(CMD)是MINOCA患者病理生理学和预后的主要因素。遗传易感性可能在CMD的原动因素中起作用。然而,在理解CMD潜在遗传机制方面取得的成果很少。未来的研究对于更深入了解多种基因变异在微循环功能障碍发生中的作用至关重要。研究进展将有助于早期识别高危患者,并制定针对患者个体的药物治疗策略。本综述的目的是回顾MINOCA的病理生理学和潜在机制,重点关注CMD及其遗传易感性的实际知识。