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01-11-2009 | Review article

Founder mutations in the Netherlands

SCN5a 1795insD, the first described arrhythmia overlap syndrome and one of the largest and best characterised families worldwide

Auteurs: P. G. Postema, M. P. Van den Berg, J. P. Van Tintelen, F. Van den Heuvel, M. Grundeken, N. Hofman, W. P. Van der Roest, E. A. Nannenberg, I. P. C. Krapels, C. R. Bezzina, A. A. M. Wilde

Gepubliceerd in: Netherlands Heart Journal | Uitgave 11/2009

Abstract

In this part of a series on founder mutations in the Netherlands, we review a Dutch family carrying the SCN5a 1795insD mutation. We describe the advances in our understanding of the premature sudden cardiac deaths that have accompanied this family in the past centuries. The mutation carriers show a unique overlap of long-QT syndrome (type 3), Brugada syndrome and progressive cardiac conduction defects attributed to a single mutation in the cardiac sodium channel gene SCN5a. It is at present one of the largest and best-described families worldwide and we have learned immensely from the mouse strains with the murine homologue of the SCN5a 1795insD mutation (SCN5a 1798insD). From the studies currently performed we are about to obtain new insights into the phenotypic variability in this monogenic arrhythmia syndrome, and this might also be relevant for other arrhythmia syndromes and the general population. (Neth Heart J 2009;17:422–8.)

vorige artikel Primary coronary intervention for ST-elevation myocardial infarction in Indonesia and the Netherlands: a comparison

volgende artikel Methods for analysing cardiovascular studies with repeated measures

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Titel: Founder mutations in the Netherlands
SCN5a 1795insD, the first described arrhythmia overlap syndrome and one of the largest and best characterised families worldwide
Auteurs: P. G. Postema
M. P. Van den Berg
J. P. Van Tintelen
F. Van den Heuvel
M. Grundeken
N. Hofman
W. P. Van der Roest
E. A. Nannenberg
I. P. C. Krapels
C. R. Bezzina
A. A. M. Wilde
Publicatiedatum: 01-11-2009
Uitgeverij: Bohn Stafleu van Loghum
Gepubliceerd in: Netherlands Heart Journal / Uitgave 11/2009
Print ISSN: 1568-5888
Elektronisch ISSN: 1876-6250
DOI: https://doi.org/10.1007/BF03086296

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