Einthoven dissertation prizes 2012

E E Van Der Wall,V Umans,M J Schalij,W H Van Gilst

doi:10.1007/s12471-013-0404-0

E E Van Der Wall, V Umans + Show 2 more

Open Access

https://doi.org/10.1007/s12471-013-0404-0

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Abstract

For the 21st 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.

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

Modifiers of phenotype in inheritable arrhythmia syndromes

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)

Fever and exercise as modifiers of phenotype

Single nucleotide polymorphisms as modifiers of phenotype

The antithrombotic management of atrial fibrillation