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- W2893287126 abstract "Introduction: The pathogenic p.Arg14del phospholamban (PLN) mutation causes dilated and/or arrhythmogenic cardiomyopathy and is associated with increased risk of malignant ventricular arrhythmias and severe heart failure. Recently, we showed that PLN p.Arg14del cardiomyopathy may be diagnosed in whole heart specimens by PLN immunohistochemistry which allowed microscopic detection of PLN-containing aggregates in cardiomyocytes in dense perinuclear aggresomes. Objective: To determine the accuracy (sensitivity and specificity) of PLN immunohistochemistry in apical left ventricular myocardial specimens, harvested during left ventricular assist device (LVAD) implantation, to diagnose PLN p.Arg14del cardiomyopathy. Methods: Included were myocardial LVAD specimens from 26 diverse genetic cardiomyopathy cases with known gene mutations (5 PLN p.Arg14del cases and 21 cases with other pathogenic cardiomyopathy mutations). Immunohistochemistry (IHC) with monoclonal phospolamban antibody 2D12 (1:10000, Abcam, Cambridg..." @default.
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- W2893287126 date "2016-11-11" @default.
- W2893287126 modified "2023-09-26" @default.
- W2893287126 title "Abstract 16811: Phospholamban Immunostaining is a Highly Sensitive and Specific Method for Diagnosing Phospholamban p.Arg14del Cardiomyopathy" @default.
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