QTc prolongation and family history of sudden death in a patient with desmin cardiomyopathy.
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.
Sung
Raphael K
RK
University of California San Francisco Medical Center, San Francisco, California 94143-0124, USA. rsung@medicine.ucsf.com
Ursell
Philip C
PC
Rame
J Eduardo
JE
Bailey
Helen
H
Caleshu
Colleen
C
Nussbaum
Robert L
RL
Scheinman
Melvin M
MM
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
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