Article
Left-dominant arrhythmogenic cardiomyopathy in a large family: associated desmosomal or nondesmosomal genotype?
Heart rhythm - 1 Apr 2013
Groeneweg Judith A, van der Zwaag Paul A, Jongbloed Jan D H, Cox Moniek G P J, Vreeker Arnold, de Boer Rudolf A, van der Heijden Jeroen F, van Veen Toon A B, McKenna William J, van Tintelen J Peter, Dooijes Dennis, Hauer Richard N W
Abstract excerpt
BACKGROUND: Arrhythmogenic cardiomyopathy (AC) is considered a predominantly right ventricular (RV) desmosomal disease. However, left-dominant forms due to desmosomal gene mutations, including PKP2 variant c.419C>T, have been described. Recently, a nondesmosomal phospholamban (PLN) mutation (c.40_42delAGA) has been identified, causing dilated cardiomyopathy and arrhythmias. OBJECTIVE: To gain more insight into...
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