A novel tool for arrhythmic risk stratification in desmoplakin gene variant carriers
Abstract Background and Aims Pathogenic desmoplakin (DSP) gene variants are
associated with the development of a distinct form of arrhythmogenic cardiomyopathy known …
associated with the development of a distinct form of arrhythmogenic cardiomyopathy known …
Toward Precision Medicine in the Treatment of Arrhythmogenic Cardiomyopathy
MB Liu, VN Parikh - Current Treatment Options in Cardiovascular …, 2024 - Springer
Abstract Purpose of Review This review highlights the current lack of disease specific
therapies available for arrhythmogenic cardiomyopathy (ACM) and explores recent new …
therapies available for arrhythmogenic cardiomyopathy (ACM) and explores recent new …
Nondilated left ventricular cardiomyopathy with arrhythmias is commonly caused by the nonsense variant DSP:c.3793G>T in Slovenian patients
DSPcardiomyopathy has recently been recognised as a specific type of cardiomyopathy.
Using an inhouse Mendelian disease registry, we aimed to identify probands with likely …
Using an inhouse Mendelian disease registry, we aimed to identify probands with likely …
Clinical features and outcomes in carriers of pathogenic desmoplakin variants
Abstract Background and Aims Pathogenic variants in the desmoplakin (DSP) gene are
associated with the development of a distinct arrhythmogenic cardiomyopathy phenotype …
associated with the development of a distinct arrhythmogenic cardiomyopathy phenotype …
Natural History, Phenotype Spectrum and Clinical Outcomes of Desmin (DES)-Associated Cardiomyopathy
B Asatryan, M Rieder, B Murray, SA Muller, C Tichnell… - medRxiv, 2024 - medrxiv.org
Background: Pathogenic/likely pathogenic (P/LP) desmin (DES) variants cause
heterogeneous cardiomyopathy and/or skeletal myopathy phenotypes. Limited data suggest …
heterogeneous cardiomyopathy and/or skeletal myopathy phenotypes. Limited data suggest …
[HTML][HTML] Desmoplakin-Specific ARVC Risk Scores: Deep Phenotyping to Drive Precision Medicine
GH Bevan, B Nazer, RK Cheng - JACC: Advances, 2024 - jacc.org
Acase series in 1982 was the first detailed description of a disease pathology characterized
by fibrofatty replacement of the right ventricular myocardium and a proclivity toward sudden …
by fibrofatty replacement of the right ventricular myocardium and a proclivity toward sudden …