Síndrome de Andersen-Tawil: una revisión del diagnóstico genético y clínico con énfasis en sus manifestaciones cardíacas

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.

Sanger sequencing as a first-line approach for molecular diagnosis of Andersen-Tawil syndrome

“…Until 2015, the only gene thought to be affected was the potassium voltage-gated channel subfamily J member 2 5 (the KCNJ2 gene), which encodes the alpha subunit protein of the Kir2.1 channel composed of tetramers 6 . Mutations in this gene have been reported in 60% of clinically suspected cases (which are classified as ATS type 1) 7 . Less than 200 cases with the KCNJ2 gene affected have been described worldwide since the discovery of the first mutations in 2001 8 , 9 .…”