Founder mutations in inherited cardiac diseases in the by Arthur A.M. Wilde, J. Peter van Tintelen

By Arthur A.M. Wilde, J. Peter van Tintelen

This publication summarizes our present wisdom of founder mutation populations (‘extended families’) within the Netherlands, between different facets offering perception in the place those sufferers will be anticipated (coloured maps of the superiority within the ninety nine Dutch postal code areas are supplied for each phenotype) and what their specified phenotype is.

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1995;80:805–11. Chen Q, Kirsch GE, Zhang D, Brugada R, Brugada J, Brugada P, et al. Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature. 1998;392:293–6. Rook MB, Bezzina Alshinawi C, Groenewegen WA, van Gelder I, van Ginneken AC, Jongsma HJ, et al. Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome. Cardiovasc Res. 1999;44:507–17. Schott JJ, Alshinawi C, Kyndt F, Probst V, Hoorntje TM, Hulsbeek M, et al.

S. community. J Am Coll Cardiol. 2004;44:1268–75. 7. Alders M, Koopmann TT, Christiaans I, et al. Haplotype-sharing analysis implicates chromosome 7q36 harboring DPP6 in familial idiopathic ventricular fibrillation. Am J Hum Genet. 2009;84:468–76. 8. Radicke S, Cotella D, Graf EM, et al. 3. J Physiol. 2005;565:751–6. 9. Postema PG, van den Berg MP, van Tintelen JP, et al. Founder mutations in the Netherlands. SCN5a 1795insD, the first described arrhythmia overlap syndrome and one of the largest and best described characterised families worldwide.

Her ECG is shown in . Figure 1b. Because no abnormalities were found, it was discussed that prophylactic treatment was not readily indicated, but her family members were asked to visit a cardiologist in a search for an inheritable arrhythmia syndrome. A few months later, while further cardiac examinations of her two remaining brothers were carried out, she suffered from VF while drinking coffee in the morning. Fortunately, she was successfully resuscitated. Subsequently, an implantable cardioverter-defibrillator (ICD) was implanted, which to date has not discharged.

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