REVERSIBLE CARDIOMYOPATHY DUE TO VENTRICULAR ARRHYTHMIAS IN A |HIGHLY UNUSUAL SYNDROME. A NOVEL PHENOTYPICAL...

We present a 16-year-old female with multisystemic disorder characterized by cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, low height (short stature), hyperglycemia and hallux valgus and pathogenic variant in SLC29A3 gene (encoding the human equilibrate nucleoside transporter (hENT3), was referred for evaluation due to recurrent non-sustained pleomorphic ventricular tachycardia refractory to amiodarone and catheter ablation. Two-dimensional echocardiography and cardiac magnetic resonance with late-gadolinium enhancement showed reduced biventricular ejection fraction without signs of inflammation or fibrosis. The administration of propranolol and flecainide controlled her ventricular arrhythmias and improved ventricular function. To our knowledge, this the first time that this arrhythmic phenotype has been demonstrated in this unusual syndrome presenting probably as a cardiomyopathy secondary to recurrent non-sustained pleomorphic ventricular tachycardia that was reversed with administration of flecainide and propranolol.