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QTc Prolongation and Family History of Sudden Death in a Patient with Desmin Cardiomyopathy
Author(s) -
SUNG RAPHAEL K.,
URSELL PHILIP C.,
RAME J. EDUARDO,
BAILEY HELEN,
CALESHU COLLEEN,
NUSSBAUM ROBERT L.,
SCHEINMAN MELVIN M.
Publication year - 2011
Publication title -
pacing and clinical electrophysiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.686
H-Index - 101
eISSN - 1540-8159
pISSN - 0147-8389
DOI - 10.1111/j.1540-8159.2010.02826.x
Subject(s) - desmin , medicine , long qt syndrome , cardiology , heart failure , cardiomyopathy , sudden death , dilated cardiomyopathy , sudden cardiac death , genetic testing , family history , qt interval , immunohistochemistry , vimentin
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:e105–e108)