Abstract
For the 19th time in a row, the Netherlands Society of Cardiology (NVVC), the Interuniversity Cardiology Institute of the Netherlands (ICIN), and the sponsor, Sanofi-Aventis have supported the competition for the best three PhD theses on a cardiovascular subject published last year. The prize carries the name of one of the great Dutchmen in the history of cardiology: Willem Einthoven (1860-1927), the pioneer of the human ECG and winner of the Nobel Prize in 1924. The jury reviewed a total of 20 dissertations. The jury members were impressed and pleased by the scientific quality of the work of the young doctors. As always, it was not easy to decide which ones to nominate for the final round. Three nominees, Gabe Bleeker, Niels Riksen and Joanne Schuijf, presented their work at the spring meeting of the NVVC, which was held in Amsterdam on 18 April 2008.
Highlights
For the 24th time in a row the Interuniversity Cardiology Institute of the Netherlands (ICIN-Netherlands Heart Institute) and the Netherlands Society of Cardiology (NVVC) supported the competition for the best three cardiovascular PhD theses published in the year 2012
Single autosomal-dominant mutations in genes encoding for cardiac ion channels serve as the primary genetic substrate for inheritable arrhythmia syndromes such as the long-QT syndrome (LQTS) and the Brugada syndrome (BrS) [1]
Our clinical studies demonstrate that in patients with BrS, linked to mutations in SCN5A, fever increases the risk of cardiac arrest due to ventricular tachycardia/fibrillation [4], and fever and exercise, separately, aggravate the typical BrS ECG changes [4,5]
Summary
Single autosomal-dominant mutations in genes encoding for cardiac ion channels serve as the primary genetic substrate for inheritable arrhythmia syndromes such as the long-QT syndrome (LQTS) and the Brugada syndrome (BrS) [1]. Therapy is greatly hampered by the growing awareness that simple carriership of a mutation often fails to predict phenotype: many mutation carriers never develop clinically relevant disease while others experience sudden cardiac death at a young age. It is still largely elusive what determines this variability in disease severity, where even family members with an identical mutation still display large differences in disease severity [1,3]. The research described in this thesis aimed to uncover potential genetic and environmental factors that, in conjunction with a mutation, modify the phenotype in inherited arrhythmia syndromes (Fig. 1)
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