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...

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Bibliographic Details
Published in:Pacing and clinical electrophysiology 2011-12, Vol.34 (12), p.e105-e108
Main Authors: SUNG, RAPHAEL K., URSELL, PHILIP C., RAME, J. EDUARDO, BAILEY, HELEN, CALESHU, COLLEEN, NUSSBAUM, ROBERT L., SCHEINMAN, MELVIN M.
Format: Article
Language:English
Subjects:
Adult
congestive heart failure
Death, Sudden, Cardiac - etiology
Death, Sudden, Cardiac - prevention & control
defibrillation—ICD
Defibrillators, Implantable
Desmin - genetics
Electrocardiography
Electrophysiologic Techniques, Cardiac
ERG1 Potassium Channel
Ether-A-Go-Go Potassium Channels - genetics
Exons
Female
Heart Failure - genetics
Heart Failure - pathology
Heart Failure - therapy
Humans
long QT
Long QT Syndrome - genetics
Long QT Syndrome - therapy
Mutation
Myositis, Inclusion Body - genetics
Myositis, Inclusion Body - pathology
Myositis, Inclusion Body - therapy
NAV1.5 Voltage-Gated Sodium Channel
Pregnancy
Pregnancy Complications, Cardiovascular - genetics
Sodium Channels - genetics
Treatment Outcome
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Description
Summary: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)
ISSN:0147-8389
1540-8159
DOI:10.1111/j.1540-8159.2010.02826.x