Amiodarone and acetazolamide for the treatment of genetically confirmed severe Andersen syndrome

Abstract

Andersen syndrome (AS) is characterized by the triad of periodic paralysis, ventricular tachyarrhythmias, and distinctive morphologic features. The cardiac dysrhythmias are often life-threatening but therapeutic options are limited.1-4⇓⇓⇓ Genetic studies recently identified nine different point mutations in KCNJ2 encoding the inward rectifying potassium channel Kir2.1.5 We describe a severely affected patient in whom treatment with amiodarone and acetazolamide resulted in sustained remission. A now 18-year-old woman with negative family history first developed symptoms at the age of 6 with recurrent flaccid paresis. At 10 years, a poststreptococcal myocarditis was suggested because of elevated serum creatine kinase levels of up to 447 U/L and asymptomatic polymorphic ventricular premature beats on EKG. Because weakness remitted spontaneously, a psychogenic origin was suspected. At age 15, she required cardiopulmonary resuscitation because of ventricular fibrillation. By programmed electrical stimulation sustained ventricular tachyarrhythmias were inducible. The QTc interval was slightly prolonged with 0.45 seconds. An implantable cardioverter …