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- Title
QTc prolongation and family history of sudden death in a patient with desmin cardiomyopathy.
- Authors
Sung, Raphael K; Ursell, Philip C; Rame, J Eduardo; Bailey, Helen; Caleshu, Colleen; Nussbaum, Robert L; Scheinman, Melvin M
- 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.
- Publication
Pacing and clinical electrophysiology : PACE, 2011, Vol 34, Issue 12, pe105
- ISSN
1540-8159
- Publication type
Journal Article
- DOI
10.1111/j.1540-8159.2010.02826.x