Abstract
Sudden cardiac death occurs in the United States with an incidence greater than 300,000 persons per year. The underlying cause of death is commonly considered to be due to primary or secondary arrhythmias. In cases in which no structural heart disease can be identified, the long QT syndromes (LQTS) are now commonly considered as likely causes. Multiple genes causing LQTS have been identified thus far, all encoding cardiac ion channels. These include two potassium channel α-subunits (KVLQT1, HERG), two potassium channel β-subunits (minK, MiRP1), and one sodium channel gene (SCN5A). The purpose of this review is to describe the current understanding of the molecular genetics of LQTS and the resultant phenotypes.
Footnotes
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Send reprint requests to: Jeffrey A. Towbin, M.D., Professor, Departments of Pediatrics (Cardiology), Cardiovascular Sciences, and Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 333E, Houston, TX 77030. E-mail:jtowbin{at}bcm.tmc.edu
- Abbreviations used are::
- LQTS
- long QT syndrome
- QTc
- QT interval corrected for heart rate
- JLNS
- Jervell and Lange-Nielsen syndrome
- RWS
- Romano-Ward syndrome
- MiRP1
- minK-related peptide 1
- IKs
- slowly activating potassium current
- HERG
- human ether-a-go-go-related gene
- IKr
- delayed rectifier potassium current
- The American Society for Pharmacology and Experimental Therapeutics
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