Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
1125870 | Revista Portuguesa de Cardiologia | 2015 | 5 Pages |
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 30âyearâold woman, previously diagnosed with neurocardiogenic syncope, in whom LQTS was identified. The patient received an implantable cardioverterâdefibrillator due to polymorphic ventricular tachycardia under betaâblocker 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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Authors
Marina Fernandes, SÃlvia Martins Ribeiro, Victor Sanfins, António Lourenço,