Long QT Syndrome genetic studies
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Long QT Syndrome Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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Long QT Syndrome genetic studies On the Web |
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American Roentgen Ray Society Images of Long QT Syndrome genetic studies |
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Risk calculators and risk factors for Long QT Syndrome genetic studies |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [2]
Overview
Either compressive testing for all variants of LQTs or for the LQTs 1-3 variants is recommended in any patient in whom there is a strong clinical suspicion based on the family history, symptoms, resting EKG, provoked findings on ETT or during catecholamine infusion.
LQT 1 Genetics
The LQT1 gene is KCNQ1 which has been isolated tochromosome 11p15.5. KCNQ1 codes for the voltage-gated potassium channel KvLQT1 that is highly expressed in the heart. It is believed that the product of the KCNQ1 gene produces an alpha subunit that interacts with other proteins (particularly the minK beta subunit) to create the IKs ion channel, which is responsible for the delayed potassium rectifier current of the cardiac action potential.Mutations to the KCNQ1 gene can be inherited in an autosomal dominant or anautosomal recessive pattern in the same family. In the autosomal recessive mutation of this gene,homozygous mutations in KVLQT1 leads to severe prolongation of the QT interval (due to near-complete loss of the IKs ion channel), and is associated with increased risk of ventricular arrhythmias and congenital deafness.