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- Tomoka Tabata, Yuki Kuramoto, Tomohito Ohtani, Hiroshi Miyawaki, Yohei Miyashita, Fusako Sera, Hidetaka Kioka, Shuichiro Higo, Yoshihiro Asano, Shungo Hikoso, and Yasushi Sakata.
- Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Japan.
- Intern. Med. 2022 Jul 1; 61 (13): 1987-1993.
AbstractPhospholamban 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.Arg14del in DCM patients.
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