Nicolas Verheyen, Johannes Auer, Nikolaos Bonaros, Tamara Buchacher, Daniel Dalos, Michael Grimm, Agnes Mayr, Anna Rab, Sebastian Reinstadler, Daniel Scherr, Gabor G Toth, Thomas Weber, David K Zach, Marc-Michael Zaruba, Daniel Zimpfer, Peter P Rainer, Gerhard Pölzl
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引用次数: 0
摘要
肥厚型心肌病(HCM)是最常见的遗传性心脏病,其特点是左心室肥大,继发原因无法解释。根据国际流行病学数据,预计奥地利约有 20,000 至 40,000 名患者。由于临床和形态表现多种多样,诊断可能比较困难,因此这种疾病往往不被人们所认识。HCM 会大大降低患者的生活质量,并可能导致心脏性猝死,尤其是年轻患者。早期正确诊断,包括基因检测,对患者及其家属的全面咨询和有效治疗至关重要。后者尤为重要,因为最近出现了一种有效治疗流出道梗阻的药物,即首创的心肌肌球蛋白 ATP 酶抑制剂,它是一种无创疗法,可替代现有的室间隔缩小疗法。这份奥地利共识声明旨在总结国际指南中有关遗传背景、病理生理学、诊断和管理方面的建议,并结合奥地利的医疗保健系统和资源情况,以通俗易懂的算法将其呈现出来。
Austrian consensus statement on the diagnosis and management of hypertrophic cardiomyopathy.
Hypertrophic cardiomyopathy (HCM) is the most common inherited heart disease that is characterized by left ventricular hypertrophy unexplained by secondary causes. Based on international epidemiological data, around 20,000-40,000 patients are expected to be affected in Austria. Due to the wide variety of clinical and morphological manifestations the diagnosis can be difficult and the disease therefore often goes unrecognized. HCM is associated with a substantial reduction in quality of life and can lead to sudden cardiac death, especially in younger patients. Early and correct diagnosis, including genetic testing, is essential for comprehensive counselling of patients and their families and for effective treatment. The latter is especially true as an effective treatment of outflow tract obstruction has recently become available in the form of a first in class cardiac myosin ATPase inhibitor, as a noninvasive alternative to established septal reduction therapies. The aim of this Austrian consensus statement is to summarize the recommendations of international guidelines with respect to the genetic background, pathophysiology, diagnostics and management in the context of the Austrian healthcare system and resources, and to present them in easy to understand algorithms.
期刊介绍:
Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance.
Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.