Founder mutations in the Netherlands: familial idiopathic ventricular fibrillation and DPP6
In this part of a series on founder mutations in the Netherlands, we review familial idiopathic ventricular fibrillation linked to the DPP6 gene. Familial idiopathic ventricular fibrillation determines an intriguing subset of the inheritable arrhythmia syndromes as there is no recognisable phenotype during cardiological investigation other than ventricular arrhythmias highly associated with sudden cardiac death. Until recently, it was impossible to identify presymptomatic family members at risk for fatal events. We uncovered several genealogically linked families affected by numerous sudden ca... Mehr ...
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Dokumenttyp: | Artikel |
Erscheinungsdatum: | 2011 |
Reihe/Periodikum: | Postema , P G , Christiaans , I , Hofman , N , Alders , M , Koopmann , T T , Bezzina , C R , Loh , P , Zeppenfeld , K , Volders , P G A & Wilde , A A M 2011 , ' Founder mutations in the Netherlands: familial idiopathic ventricular fibrillation and DPP6 ' , Netherlands Heart Journal , vol. 19 , no. 6 , pp. 290-296 . https://doi.org/10.1007/s12471-011-0102-8 |
Schlagwörter: | Sudden cardiac death / Idiopathic ventricular fibrillation / DPP6 |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-29186602 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | https://cris.maastrichtuniversity.nl/en/publications/1b9cca5f-0659-45fb-84cb-42caa14cee7b |
In this part of a series on founder mutations in the Netherlands, we review familial idiopathic ventricular fibrillation linked to the DPP6 gene. Familial idiopathic ventricular fibrillation determines an intriguing subset of the inheritable arrhythmia syndromes as there is no recognisable phenotype during cardiological investigation other than ventricular arrhythmias highly associated with sudden cardiac death. Until recently, it was impossible to identify presymptomatic family members at risk for fatal events. We uncovered several genealogically linked families affected by numerous sudden cardiac deaths over the past centuries, attributed to familial idiopathic ventricular fibrillation. Notably, ventricular fibrillation in these families was provoked by very short coupled monomorphic extrasystoles. We were able to associate their phenotype of lethal arrhythmic events with a haplotype harbouring the DPP6 gene. While this gene has not earlier been related to cardiac arrhythmias, we are now able, for the first time, to identify and to offer timely treatment to presymptomatic family members at risk for future fatal events solely by genetic analysis. Therefore, when there is a familial history of unexplained sudden cardiac deaths, a link to the DPP6 gene may be explored as it may enable risk evaluation of the remaining family members. In addition, when closely coupled extrasystoles initiate ventricular fibrillation in the absence of other identifiable causes, a link to the DPP6 gene should be suspected.