Phospholamban p.Arg14del Cardiomyopathy: A Japanese Case Series

Phospholamban p.Arg14del is reported to cause hereditary cardiomyopathy with malignant ventricular tachycardia (VT) and advanced heart failure. However, the clinical courses of Japanese cardiomyopathy patients with phospholamban p.Arg14del remain uncharacterized. We identified five patients with this variant. All patients were diagnosed with dilated cardiomyopathy (DCM), developed end-stage heart failure and experienced VT requiring implantable cardioverter defibrillator discharge. Four patients survived after implantation of a left ventricular assist device (LVAD), while one patient who refused LVAD implantation died of heart failure. Based on the severe course of the disease, we propose genetic screening for phospholamban p.Arg14 del in DCM patients.

Automated summary

Phospholamban p.Arg14del gene mutation can cause hereditary cardiomyopathy, leading to dilated cardiomyopathy and severe ventricular tachycardia in patients with advanced heart failure. Genetic screening for phospholamban p.Arg14 del is important for patients with dilated cardiomyopathy.