Phospholamban p.Arg14del Cardiomyopathy: A Japanese Case Series
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- Tabata Tomoka
- Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Japan
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- Kuramoto Yuki
- Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Japan
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- Ohtani Tomohito
- Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Japan
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- Miyawaki Hiroshi
- Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Japan
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- Miyashita Yohei
- Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Japan
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- Sera Fusako
- Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Japan
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- Kioka Hidetaka
- Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Japan
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- Higo Shuichiro
- Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Japan
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- Asano Yoshihiro
- Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Japan
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- Hikoso Shungo
- Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Japan
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- Sakata Yasushi
- Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Japan
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Abstract
<p>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.Arg14del in DCM patients. </p>
Journal
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- Internal Medicine
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Internal Medicine 61 (13), 1987-1993, 2022-07-01
The Japanese Society of Internal Medicine