Journal
PACE-PACING AND CLINICAL ELECTROPHYSIOLOGY
Volume 34, Issue 12, Pages e105-e108Publisher
WILEY
DOI: 10.1111/j.1540-8159.2010.02826.x
Keywords
long QT; congestive heart failure; defibrillationuICD
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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. (PACE 2011; 34:e105e108)
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