| A novel SCN5A mutation associated with the linker between III and IV domains of Na(v)1.5 in a neonate with fatal long QT syndrome. | |
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MedLine Citation:
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PMID: 19419784 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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A male newborn weighing 2334 g was delivered at 37 weeks of gestation by caesarean section because of prenatal ultrasound findings of fetal hydrops with atrioventricualr block, ventriucular tachycardia (VT), and impaired ventricular function. In spite of the intravenous administration of lidocaine, VT continued. He developed poor perfusion and systemic hypotension. After the intravenous administration of amiodarone, VT was terminated. The electrocardiogram revealed an extremely prolonged corrected QT interval (860 ms) with 2:1 atrioventricular block. Unfortunately, he died 18 h after birth in spite of the administration of lidocaine, beta-blocker and magnesium. Mutational analysis identified a novel heterozygous de novo mutation (F1486del) in SCN5A. This mutation is associated with the IFM motif in the linker between III and IV domains of Na(v)1.5, which serves as an inactivation particle binding within the pore of sodium channels. This report demonstrates an interesting relationship between the clinical phenotype and the location of the mutation in long QT syndrome. |
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Authors:
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Kenichiro Yamamura; Jun Muneuchi; Kiyoshi Uike; Kazuyuki Ikeda; Hirosuke Inoue; Yasushi Takahata; Yuichi Shiokawa; Yukako Yoshikane; Takeru Makiyama; Minoru Horie; Toshiro Hara |
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Publication Detail:
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Type: Letter Date: 2009-05-06 |
Journal Detail:
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Title: International journal of cardiology Volume: 145 ISSN: 1874-1754 ISO Abbreviation: Int. J. Cardiol. Publication Date: 2010 Nov |
Date Detail:
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Created Date: 2010-11-05 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8200291 Medline TA: Int J Cardiol Country: Netherlands |
Other Details:
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Languages: eng Pagination: 61-4 Citation Subset: IM |
Copyright Information:
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Copyright © 2009 Elsevier Ireland Ltd. All rights reserved. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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