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波兰心脏病学会专家关于心肌病的立场声明。

Position statement of Polish Cardiac Society experts on cardiomyopathy.

机构信息

1st Department of Cardiology, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland.

Department of Hypertension, Angiology and Internal Medicine, Poznan University of Medical Sciences, Poznań, Poland.

出版信息

Kardiol Pol. 2024;82(10):1040-1053. doi: 10.33963/v.phj.102977. Epub 2024 Oct 8.

Abstract

Cardiomyopathies (CMs) are a very broad group of diseases, including genetically determined and acquired, and their classification is based on phenotypic characteristics. There is always a need to search for the etiology (often also to try to identify the genetic cause), which may determine the appropriate choice of clinical management. The geographical distribution of genetic variants varies as does the prevalence across populations, ethnic groups, regions, and countries. The most reliable data on the distribution of individual genetic variants come from developed countries. The phenotypic classification includes 5 main types of CM, i.e., dilated CM, hypertrophic, restrictive, arrhythmogenic right ventricular CM, and non-dilated left ventricular (LV) CM. Individual CMs are characterized by a variety of causes and different phenotypic pictures, which affect their presentation, diagnosis, and response to treatment. Within each type of CM, there are both familial and sporadic (acquired) forms. The complex presentation of CM, as well as the limited availability of screening and diagnostic tests, causes CMs to be diagnosed late, often at an advanced stage of the disease. Therapeutic management of CM is strictly determined by its type and clinical picture. Diagnostics include the assessment of symptoms, the results of imaging and genetic tests, as well as morphological, functional, and often histological assessment. This allows for personalized and dedicated clinical management. To optimize thediagnosis, treatment, and care of patients with CMs, an individualized, expert, systemic, coordinated, and often multidisciplinary structure of care is necessary. Hence, it is important to create multidisciplinary teams for CM management. We present examples of existing systemic solutions for the care of CM patients in Europe (France and Spain). Not all of these options are available to patients in our country. This article presents issues related to CM and may be the basis for developing a diagnostic and therapeutic model allowing for earlier detection of CM in Polish patients and their effective treatment.

摘要

心肌病(CMs)是一组非常广泛的疾病,包括遗传性和获得性,其分类基于表型特征。总是需要寻找病因(通常也试图确定遗传原因),这可能决定了临床管理的适当选择。遗传变异的地理分布以及在人群、种族、地区和国家之间的患病率各不相同。个体遗传变异分布的最可靠数据来自发达国家。表型分类包括 5 种主要类型的 CM,即扩张型 CM、肥厚型、限制型、致心律失常性右室 CM 和非扩张性左室(LV)CM。个体 CM 表现为多种原因和不同的表型图片,这影响其表现、诊断和对治疗的反应。在每种类型的 CM 中,既有家族性的也有散发性(获得性)的。CM 的复杂表现以及筛查和诊断测试的有限可用性导致 CM 诊断较晚,通常在疾病的晚期。CM 的治疗管理严格取决于其类型和临床表现。诊断包括评估症状、影像学和基因测试结果,以及形态学、功能,并且通常是组织学评估。这允许进行个性化和专门的临床管理。为了优化 CM 患者的诊断、治疗和护理,需要建立个体化、专家、系统、协调且经常多学科的护理结构。因此,建立 CM 管理的多学科团队非常重要。我们展示了欧洲(法国和西班牙)CM 患者护理现有系统解决方案的示例。并非所有这些选择都可供我国患者使用。本文介绍了与 CM 相关的问题,可能为开发一种诊断和治疗模型奠定基础,该模型可以允许更早地发现波兰患者的 CM 并对其进行有效治疗。

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