Maladie d’Andersen, channelopathies et arythmies ventriculaires (à propos d’un cas)

Abstract

Introduction. – Recent advances in molecular genetic research have provided new insights into severe ventricular arrhythmias related to channelopathies. Case report. – A case of Andersen’s syndrome followed during fourteen years is reported. This rare familial periodic paralysis is characterized by its association with dysmorphic features (micrognatia) and ventricular arrhythmias. Comments. – Andersen’s syndrome has been attributed to a mutation in the KCNJ2 gene which is involved not only in stabilizing cardiac rhythm, but also in modulating the excitability of skeletal muscle and in morphogenesis. This disease must be distinguished from hyperkalemic periodic paralysis due to a mutation in the skeletal muscle sodium channel gene (SCN4A) and from hypokalemic periodic paralysis related to dihydropyridine receptor mutation (CACNL1A3). Furthermore, it may not be confused with others rhythmic channelopathies (long QT syndromes, catecholaminergic polymorphic ventricular tachycardia and Brugada’s syndrome).