Skip to main content
main-content

Tip

Swipe om te navigeren naar een ander artikel

01-11-2009 | Review article | Uitgave 11/2009

Netherlands Heart Journal 11/2009

Founder mutations in the Netherlands

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

Tijdschrift:
Netherlands Heart Journal > Uitgave 11/2009
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
Belangrijke opmerkingen
Department of Cardiology, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands
Department of Cardiology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands
Department of Clinical Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands
Department of Paediatrics, Division of Paediatric Cardiology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands
Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands
Department of Clinical Genetics, Academic Hospital Maastricht, University of Maastricht, Maastricht, the Netherlands
Heart Failure Research Center, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands
Department of Cardiology, Academic Medical Center, University of Amsterdam, Amsterdam, and Heart Failure Research Center, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands
M.P. van den Berg Department of Cardiology, University Medical Center Groningen, PO Box 30001, 9700 RB Groningen, the Netherlands

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.)

Log in om toegang te krijgen

Met onderstaand(e) abonnement(en) heeft u direct toegang:

Netherlands Heart Journal

Het Netherlands Heart Journal wordt uitgegeven in samenwerking met de Nederlandse Vereniging voor Cardiologie en de Nederlandse Hartstichting. Het tijdschrift is Engelstalig en wordt gratis beschikbaa ...

Literatuur
Over dit artikel

Andere artikelen Uitgave 11/2009

Netherlands Heart Journal 11/2009Naar de uitgave