[A new type of periodic paralysis: Andersen-Tawil syndrome].
Andersen-Tawil syndrome includes a clinical triad consisting of periodic paralysis, cardiac arrhythmia, and usually mild but diagnostically useful dysmorphic features. This potassium channelopathy is due to mutation of the KCNJ2 gene encoding the protein Kir 2.1. The main muscular manifestation is periodic paralysis, usually of the hypokalemic type. Muscle biopsy may reveal tubular aggregates or be normal, as in our patient. Cardiac manifestations are variable and may include a long QT syndrome, premature ventricular contractions, complex ventricular ectopy, and polymorphic or bidirectional ventricular tachycardia. Imipramine therapy had a positive effect on arrhythmia in our patient. Dysmorphic features provide a diagnostic clue but may be difficult to identify and should thus be methodically sought. Clinical expression is variable, even within the same family. Since the culprit gene KCNJ2 was identified, locus heterogeneity has been shown in Andersen-Tawil syndrome. Kindreds without KCNJ2 mutations are clinically indistinguishable from those with mutations. Kir2.1 is an inward rectifier K+ channel with important roles in maintaining membrane potential and during the terminal phase of cardiac action potential repolarization. Several studies show a dominant negative effect of KCNJ2 mutation on Kir 2.1 channel function.
Pouget
Jean
J
Centre de Référence des maladies neuromusculaires et de la SLA, Hôpital de La Timone, 264, rue Saint-Pierre, Marseille.
D000015:Abnormalities, Multiple / Q000235:genetics; D005145:Face / Q000002:abnormalities; D018740:Genetic Heterogeneity; D006330:Heart Defects, Congenital / Q000209:etiology; D006801:Humans; D020514:Hypokalemic Periodic Paralysis / Q000145:classification / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D007668:Kidney / Q000002:abnormalities; D008133:Long QT Syndrome / Q000209:etiology; D009222:Myotonia / Q000209:etiology; D010641:Phenotype; D024661:Potassium Channels, Inwardly Rectifying / Q000172:deficiency* / Q000235:genetics; D012600:Scoliosis / Q000209:etiology; D013576:Syndactyly / Q000209:etiology; D018879:Ventricular Premature Complexes / Q000209:etiology
C489457:KCNJ2 protein, human; D024661:Potassium Channels, Inwardly Rectifying