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[德国的心脏遗传学——观点与综述]

[Cardiogenetics in Germany- a view and review].

作者信息

Schulze-Bahr E

机构信息

Institut für Genetik von Herzerkrankungen (IfGH), Spezialambulanz für Patienten mit genetischen Herzerkrankungen, Universitätsklinikum Münster (UKM), Domagkstr. 3, 48145, Münster, Deutschland.

出版信息

Herzschrittmacherther Elektrophysiol. 2024 Mar;35(Suppl 1):127-137. doi: 10.1007/s00399-024-01008-y. Epub 2024 Feb 28.

Abstract

The development of the cardiogenetics field in Germany has been increasing since the mid-1990s with many national contributions, some of them were really important and groundbreaking. The starting point was and still is the patient and his family, e.g. with a familial form of arrhythmia or cardiomyopathy, the clarification of the genetic cause and the personalized treatment of those being affected. The scientific, always translationally oriented interest in identifying a causative gene and uncovering the underlying pathomechanisms has led to notable contributions for Brugada syndrome, short QT syndrome and cardiac conduction disorders or sinus node dysfunction, but also in DCM or ARVC. What is important, however, is always the way back (bench > bed side): implementation of national and international recommendations for cardiogenetic diagnostics in daily cardiological routine and the personalized care and therapy of those being affected.

摘要

自20世纪90年代中期以来,德国心脏遗传学领域的发展一直在加速,有许多国内的贡献,其中一些非常重要且具有开创性。起点过去是、现在仍然是患者及其家庭,例如对于患有家族性心律失常或心肌病的患者,要明确其遗传病因并对患者进行个性化治疗。在确定致病基因和揭示潜在病理机制方面,始终以转化为导向的科学兴趣为布加综合征、短QT综合征、心脏传导障碍或窦房结功能障碍,以及扩张型心肌病或致心律失常性右室心肌病等做出了显著贡献。然而,重要的始终是回归之路(从实验室到床边):在日常心脏病诊疗中实施国家和国际心脏遗传学诊断建议,以及对患者进行个性化护理和治疗。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f0a9/10924006/14a5e8f82ac1/399_2024_1008_Fig1_HTML.jpg

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