Ventricular arrhythmia and tachycardia-induced cardiomyopathy in Gitelman syndrome, hypokalaemia is not the only culpable

Abstract

Gitelman syndrome (GS) is an autosomal recessive tubulopathy recently implicated in cases with ventricular arrhythmias (VAs), the latter being considered linked to electrolytes’ imbalance. However, a direct causal relationship is considered to be an oversimplification for a complex molecular dysfunction. Recent work has suggested a degree of microvascular dysfunction in patients with GS that might be attributed as a mechanism of arrhythmia. We report a case of GS presenting with VAs complicated by cardiomyopathy. The high load of premature ventricular contractions that were attributed to the hypokalaemia has masked the presence of the left ventricular (LV) outflow tract tachycardia. Her LV systolic function recovered after successful electrophysiology ablation procedure. Atrioventricular nodal re-entry tachycardia was discovered incidentally during the study and was ablated successfully.