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  • Title: Long QT syndrome with mutations in three genes: A rare case.
    Author: Fernandes M, Martins Ribeiro S, Sanfins V, Lourenço A.
    Journal: Rev Port Cardiol; 2015 May; 34(5):359.e1-5. PubMed ID: 25935074.
    Abstract:
    Congenital long QT syndrome (LQTS) is a rare hereditary disease, with an incidence of 1 in 2000, characterized by prolonged ventricular repolarization and malignant ventricular tachyarrhythmias. We report the case of a 30-year-old woman, previously diagnosed with neurocardiogenic syncope, in whom LQTS was identified. The patient received an implantable cardioverter-defibrillator due to polymorphic ventricular tachycardia under beta-blocker therapy. Molecular genetic testing identified three mutations in heterozygosity in the KCNH2, KCNQ1 and SCN5A genes, which is a rare finding and is associated with worse prognosis.
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