QTc prolongation and family history of sudden death in a patient with desmin cardiomyopathy

Pacing and Clinical Electrophysiology : PACE
Raphael K SungMelvin M Scheinman

Abstract

This case report describes a pregnant female patient who presented with new-onset congestive heart failure symptoms and prolonged QTc, with strong family history of sudden death. Endomyocardial biopsy and genetic testing revealed myocardial desmin accumulation and a previously described mutation in the DES (desmin) gene, as well as variants in two LQT genes, SCN5A and KCNH2. The case highlights the phenotypic variability for a particular desmin genotype, and the possible interaction of desminopathy with LQT variants not independently associated with large differences in current properties or QT prolongation from wild type.

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Citations

Nov 13, 2012·Acta Neuropathologica·Christoph S ClemenRolf Schröder
Nov 10, 2015·International Journal of Cardiology·Josef FinstererConcha Maeztu
Nov 8, 2015·Journal of Muscle Research and Cell Motility·Anna Kostera-PruszczykMaria Jolanta Rędowicz

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