title: [Andersen-Tawil syndrome: a review of its clinical and genetic diagnosis with emphasis on cardiac manifestations].
abstract: The Andersen-Tawil syndrome is a cardiac ion channel disease that is inherited in an autosomal dominant way and is classified as type 7 of the congenital long QT syndromes. Affected gene is KCNJ2, which forms the inward rectifier potassium channel designated Kir2.1. This protein is involved in stabilizing the resting membrane potential and controls the duration of the action potential in skeletal muscle and heart. It also participates in the terminal repolarization phase of the action potential in ventricular myocytes and is a major component responsible for the correction in the potassium current during phase 3 of the action potential repolarization. Kir 2.1 channel has a predominant role in skeletal muscle, heart and brain. Alterations in this channel produce flaccid paralysis, arrhythmias, impaired skeletal development primarily in extremities and facial area. In this review we address the disease from the point of view of clinical and molecular diagnosis with emphasis on cardiac manifestations.
authors.affiliation: Departamento de Electrofisiología, Instituto Nacional de Cardiología Ignacio Chávez, México D.F., México. Electronic address: manlio.marquez@gmail.com.
authors.forename: Manlio F
authors.initials: MF
authors.lastname: Márquez
authors.affiliation: Departamento de Biología Molecular, Instituto Nacional de Cardiología Ignacio Chávez, México D.F., México; Maestría en Investigación Clínica Experimental en Salud, Universidad Nacional Autónoma de México, México D.F., México.
authors.forename: Armando
authors.initials: A
authors.lastname: Totomoch-Serra
authors.affiliation: Departamento de Biología Molecular, Instituto Nacional de Cardiología Ignacio Chávez, México D.F., México.
authors.forename: Gilberto
authors.initials: G
authors.lastname: Vargas-Alarcón
authors.affiliation: Departamento de Biología Molecular, Instituto Nacional de Cardiología Ignacio Chávez, México D.F., México.
authors.forename: David
authors.initials: D
authors.lastname: Cruz-Robles
authors.affiliation: Centro de Arritmias Cardíacas, Hospital Universitario del Centenario, Rosario (Santa Fe), Argentina.
authors.forename: Oscar A
authors.initials: OA
authors.lastname: Pellizzon
authors.affiliation: Departamento de Electrofisiología, Instituto Nacional de Cardiología Ignacio Chávez, México D.F., México.
authors.forename: Manuel
authors.initials: M
authors.lastname: Cárdenas
mesh_terms: D050030:Andersen Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D006331:Heart Diseases / Q000209:etiology; D006801:Humans; D010375:Pedigree
keywords: Andersen-Tawil syndrome; Clasificación; Classification; Diagnosis; Diagnóstico; Gene mutation; Long QT syndrome; Mexico; Mutación génica; México; Síndrome de Andersen-Tawil; Síndrome de QT largo