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Pacing Clin Electrophysiol. 2011 Dec;34(12):e105-8. doi: 10.1111/j.1540-8159.2010.02826.x. Epub 2010 Jul 15.

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

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  • 1University of California San Francisco Medical Center, San Francisco, California 94143-0124, USA.


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.

©2010, The Authors. Journal compilation ©2010 Wiley Periodicals, Inc.

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