| 1. |
- Arking, D. E., et al.
(författare)
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Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization
- 2014
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Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 46:8, s. 826-836
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Tidskriftsartikel (refereegranskat)abstract
- The QT interval, an electrocardiographic measure reflecting myocardial repolarization, is a heritable trait. QT prolongation is a risk factor for ventricular arrhythmias and sudden cardiac death (SCD) and could indicate the presence of the potentially lethal mendelian long-QT syndrome (LQTS). Using a genome-wide association and replication study in up to 100,000 individuals, we identified 35 common variant loci associated with QT interval that collectively explain ∼ 8-10% of QT-interval variation and highlight the importance of calcium regulation in myocardial repolarization. Rare variant analysis of 6 new QT interval-associated loci in 298 unrelated probands with LQTS identified coding variants not found in controls but of uncertain causality and therefore requiring validation. Several newly identified loci encode proteins that physically interact with other recognized repolarization proteins. Our integration of common variant association, expression and orthogonal protein-protein interaction screens provides new insights into cardiac electrophysiology and identifies new candidate genes for ventricular arrhythmias, LQTS and SCD. © 2014 Nature America, Inc.
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| 2. |
- Werdan, K., et al.
(författare)
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Curriculum Kardiologie 2., aktualisierte Auflage
- 2020
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Ingår i: KARDIOLOGE. - : SPRINGER HEIDELBERG. - 1864-9718 .- 1864-9726. ; 14:6, s. 505-536
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Tidskriftsartikel (refereegranskat)abstract
- The updated second edition of the "Curriculum cardiology", first edition 2013, aims to show which competences a cardiologist should nowadays master. It is very pleasing that in this second edition representatives of the Young German Cardiac Society (Young DGK) have contributed as authors. The increasing specialization within cardiology should, however, only represent one side of the coin: there must also still be a common foundation of cardiology, embedded in the discipline "internal medicine". This foundation includes the basis of theoretical knowledge, practical skills (competence levels I-III) and an occupational and professional attitude of the (prospective) cardiologist. New additions to the advanced training since the first edition of the curriculum in 2013 are, for example a chapter on digital cardiology, the further training in psychocardiology, which was newly introduced into the model further training regulations and finally also the explicit formulation of shared decision making in the interests of cardiac patients. The curriculum should give the prospective cardiologist the possibility to structure the further training as efficiently as possible and ultimately to retain and expand that which has been learned in the sense of a "professional lifelong" qualification. The curriculum also aims to reach the trainers and the Medical Councils and demonstrate which contents and skills should be mediated in the further training to become a cardiologist from the perspective of the German Cardiac Society (DGK).
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