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n CME : Your SA Journal of CPD - Genomics from the heart : cot death and the long QT syndrome : main topic

Volume 23, Issue 1
  • ISSN : 0256-2170
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Abstract

The LQTS syndrome, a genetic disorder characterised by cardiac arrhythmias which may be lethal, has been epidemiologically linked to cot death. <br>Previously it was classified as a disorder with only two forms, autosomal dominant and autosomal recessive, by a possible family history and the association with deafness. <br>It has now been mapped to at least 7 chromosomal loci (LQT 1-7); of these, 6 genes are known, of which all but one (LQT 3) are genes for transmembrane myocardial potassium channels. <br>The commoner forms (LQT 1-3) can be differentiated from one another by specific genotype-phenotype correlations, based on triggers for cardiac events. <br>Genetic studies of infants have confirmed molecular (DNA) links to the LQTS, and have defined effective drug treatment based on genotype. <br>Genetic testing now can establish the diagnosis, test individuals at familial risk and assist with accurate drug or other therapeutic options.

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/content/m_cme/23/1/EJC62871
2005-01-01
2017-09-24

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