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.
©2010, The Authors. Journal compilation ©2010 Wiley Periodicals, Inc.
MeSH terms
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Adult
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Death, Sudden, Cardiac / etiology
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Death, Sudden, Cardiac / prevention & control
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Defibrillators, Implantable
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Desmin / genetics*
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ERG1 Potassium Channel
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Electrocardiography
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Electrophysiologic Techniques, Cardiac
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Ether-A-Go-Go Potassium Channels / genetics
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Exons
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Female
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Heart Failure / genetics*
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Heart Failure / pathology
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Heart Failure / therapy
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Humans
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Long QT Syndrome / genetics*
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Long QT Syndrome / therapy
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Mutation*
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Myositis, Inclusion Body / genetics*
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Myositis, Inclusion Body / pathology
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Myositis, Inclusion Body / therapy
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NAV1.5 Voltage-Gated Sodium Channel
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Pregnancy
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Pregnancy Complications, Cardiovascular / genetics*
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Sodium Channels / genetics
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Treatment Outcome
Substances
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Desmin
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ERG1 Potassium Channel
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Ether-A-Go-Go Potassium Channels
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KCNH2 protein, human
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NAV1.5 Voltage-Gated Sodium Channel
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SCN5A protein, human
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Sodium Channels