Referenced in: none

Automatically associated channels: Kv11.1 , Kv7.1 , Nav1.5

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

Authors: Raphael K Sung, Philip C Ursell, J Eduardo Rame, Helen Bailey, Colleen Caleshu, Robert L Nussbaum, Melvin M Scheinman

Journal, date & volume: Pacing Clin Electrophysiol, 2011 Dec , 34, e105-8

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/20636320

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.