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    עמוד בית
    Fri, 04.04.25

    Original Articles

    IMAJ | volume

    Journal 11, November 2008
    pages: 809-811

    Identification of the Gene Causing Long QT Syndrome in an Israeli Family

      Full article (PDF)

      Summary

      Background: Long QT syndrome is an inherited cardiac disease, associated with malignant arrhythmias and sudden cardiac death.

      Objectives: To map and identify the gene responsible for LQTS[1] in an Israeli family.

      Methods: A large family was screened for LQTS after one of them was successfully resuscitated from ventricular fibrillation. The DNA was examined for suspicious loci by whole genome screening and the coding region of the LQT2 gene was sequenced.

      Results: Nine family members, 6 males and 3 females, age (median and interquartile range) 26 years (13, 46), who were characterized by a unique T wave pattern were diagnosed as carrying the mutant gene. The LQTS-causing gene was mapped to chromosome 7 with the A614V mutation. All of the affected members in the family were correctly identified by electrocardiogram. Corrected QT duration was inversely associated with age in the affected family members and decreased with age.

      Conclusions: Careful inspection of the ECG can correctly identify LQTS in some families. Genetic analysis is needed to confirm the diagnosis and enable the correct therapy in this disease


      [1] LQTS = long QT syndrome

      Full article (PDF)
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