Flecainide, a therapeutic option in a patient with long QT syndrome type 3 caused by the heterozygous V411M mutation in the SCN5A gene.

نویسندگان

  • José Ignacio Carrasco
  • Isabel Izquierdo
  • Pilar Medina
  • Miguel Ángel Arnau
  • Antonio Salvador
  • Esther Zorio
چکیده

4. Otero Raviña F, Mazón-Ramos P, Grigorian-Shamagian L, Nores-Lorenzo A, Zugaza-Gurruchaga L, Seoane-Blanco R, et al. Influencia de la diabetes en las caracterı́sticas clı́nicas y el pronóstico de pacientes con cardiopatı́a isquémica crónica. Estudio CIBAR. Rev Esp Cardiol. 2010;63:1371–6. Heart Disease (BARIHD) study. Int J Cardiol. 2012. http://dx.doi.org/10.1016/ j.ijcard.2012.01.014. 6. Conthe P, Lobos JM, González-Juanatey JR, Gil A, Pajuelo J, Novials A. Diferencias en la atención de las mujeres con alto riesgo cardiovascular respecto a los 5. Vidal-Pérez R, Otero-Raviña F, Franco M, Rodrı́guez Garcı́a JM, Liñares Stolle R, Esteban Álvarez R, et al. Determinants of cardiovascular mortality in a cohort of primary care patients with chronic ischemic heart disease. BARbanza Ischemic

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Novel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome

Objective(s): Jervell and Lange–Nielsen syndrome is an autosomal recessive disorder caused by mutations in KCNQ1 or KCNE1 genes. The disease is characterized by sensorineural hearing loss and long QT syndrome. Methods: Here we present a 3.5-year-old female patient, an offspring of consanguineous marriage, who had a history of recurrent syncope and congenital sensorineural deafness. The patient ...

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BACKGROUND Mutations in SCN5A can result in both long QT type 3 (LQT3) and Brugada syndrome (BrS), and a few mutations have been found to have an overlapping phenotype. Long QT syndrome is characterized by prolonged QT interval, and a prerequisite for a BrS diagnosis is ST elevation in the right precordial leads of the electrocardiogram. METHODS AND RESULTS In a Danish family suffering from l...

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Effects of flecainide in patients with new SCN5A mutation: mutation-specific therapy for long-QT syndrome?

BACKGROUND Mutations in the cardiac sodium channel gene (SCN5A) can cause one variant of the congenital long-QT syndrome. The effects of some of these mutations on the alpha-subunit channel properties can be blocked by type Ib antiarrhythmic drugs. Recently, we have described a new SCN5A mutation (D1790G) that affects the channel properties in a manner suggesting that sodium blockers of the Ib ...

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Lack of association between coding region of KCNE2 gene and the congenital long QT syndrome in an Iranian population

Introduction: Congenital long QT syndrome (LQTS) is a cardiac disorder characterized by QT interval prolongation at basal ECG. Different LQTS genes encode ion channel subunits or proteins involved in regulating cardiac ionic currents. Long QT syndrome type 6 (LQT6) is caused by mutation in the KCNE2 gene. Our research aimed to analyze genetic variants of KCNE2 gene causing the disease in Irania...

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Gating-dependent mechanisms for flecainide action in SCN5A-linked arrhythmia syndromes.

BACKGROUND Mutations in the cardiac sodium (Na) channel gene (SCN5A) give rise to the congenital long-QT syndrome (LQT3) and the Brugada syndrome. Na channel blockade by antiarrhythmic drugs improves the QT interval prolongation in LQT3 but worsens the Brugada syndrome ST-segment elevation. Although Na channel blockade has been proposed as a treatment for LQT3, flecainide also evokes "Brugada-l...

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عنوان ژورنال:
  • Revista espanola de cardiologia

دوره 65 11  شماره 

صفحات  -

تاریخ انتشار 2012