Article
High prevalence of four long QT syndrome founder mutations in the Finnish population.
Annals of medicine - 1 Jan 2009
Marjamaa Annukka, Salomaa Veikko, Newton-Cheh Christopher, Porthan Kimmo, Reunanen Antti, Karanko Hannu, Jula Antti, Lahermo Päivi, Väänänen Heikki, Toivonen Lauri, Swan Heikki, Viitasalo Matti, Nieminen Markku S, Peltonen Leena, Oikarinen Lasse, Palotie Aarno, Kontula Kimmo
Abstract excerpt
AIMS: Long QT syndrome (LQTS) is an inherited arrhythmia disorder with an estimated prevalence of 0.01%-0.05%. In Finland, four founder mutations constitute up to 70% of the known genetic spectrum of LQTS. In the present survey, we sought to estimate the actual prevalence of the founder mutations and to determine their effect sizes in the general Finnish population. METHODS AND RESULTS: We genotyped 6334 subjects...
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