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奥地利肥厚型心肌病诊断与管理共识声明

Austrian consensus statement on the diagnosis and management of hypertrophic cardiomyopathy.

机构信息

Division of Cardiology, Department of Internal Medicine, Medical University of Graz, Auenbruggerplatz 15, 8036, Graz, Austria.

Department of Internal Medicine 1 with Cardiology and Intensive Care, St. Josef Hospital Braunau, Braunau, Austria.

出版信息

Wien Klin Wochenschr. 2024 Oct;136(Suppl 15):571-597. doi: 10.1007/s00508-024-02442-1. Epub 2024 Oct 1.

Abstract

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.

摘要

肥厚型心肌病(HCM)是最常见的遗传性心脏病,其特征是左心室肥厚,无法用继发性原因解释。根据国际流行病学数据,奥地利预计有 2 万至 4 万名患者受到影响。由于临床表现和形态学表现多种多样,因此诊断可能具有挑战性,并且该疾病通常未被识别。HCM 会导致生活质量大幅下降,并可能导致心脏性猝死,尤其是在年轻患者中。早期和正确的诊断,包括基因检测,对于对患者及其家属进行全面咨询和有效治疗至关重要。最近,一种新型的心脏肌球蛋白 ATP 酶抑制剂作为一种替代已建立的间隔减少治疗的非侵入性方法,为流出道梗阻提供了有效的治疗方法,这一点尤其正确。本奥地利共识声明的目的是总结国际指南关于遗传背景、病理生理学、诊断和管理的建议,同时结合奥地利医疗保健系统和资源的情况,以易于理解的算法呈现这些建议。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b01f/11445290/74c943bffeda/508_2024_2442_Fig1_HTML.jpg

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