title: QTc prolongation and family history of sudden death in a patient with desmin cardiomyopathy.
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.
authors.affiliation: University of California San Francisco Medical Center, San Francisco, California 94143-0124, USA. rsung@medicine.ucsf.com
authors.forename: Raphael K
authors.initials: RK
authors.lastname: Sung
authors.forename: Philip C
authors.initials: PC
authors.lastname: Ursell
authors.forename: J Eduardo
authors.initials: JE
authors.lastname: Rame
authors.forename: Helen
authors.initials: H
authors.lastname: Bailey
authors.forename: Colleen
authors.initials: C
authors.lastname: Caleshu
authors.forename: Robert L
authors.initials: RL
authors.lastname: Nussbaum
authors.forename: Melvin M
authors.initials: MM
authors.lastname: Scheinman
mesh_terms: D000328:Adult; D016757:Death, Sudden, Cardiac / Q000209:etiology / Q000517:prevention & control; D017147:Defibrillators, Implantable; D003893:Desmin / Q000235:genetics*; D000072237:ERG1 Potassium Channel; D004562:Electrocardiography; D022062:Electrophysiologic Techniques, Cardiac; D051638:Ether-A-Go-Go Potassium Channels / Q000235:genetics; D005091:Exons; D005260:Female; D006333:Heart Failure / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D006801:Humans; D008133:Long QT Syndrome / Q000235:genetics* / Q000628:therapy; D009154:Mutation; D018979:Myositis, Inclusion Body / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D062554:NAV1.5 Voltage-Gated Sodium Channel; D011247:Pregnancy; D011249:Pregnancy Complications, Cardiovascular / Q000235:genetics*; D015222:Sodium Channels / Q000235:genetics; D016896:Treatment Outcome
chemical_list: D003893:Desmin; D000072237:ERG1 Potassium Channel; D051638:Ether-A-Go-Go Potassium Channels; C000606913:KCNH2 protein, human; D062554:NAV1.5 Voltage-Gated Sodium Channel; C568320:SCN5A protein, human; D015222:Sodium Channels