Article
A Systematic Analysis of the Clinical Outcome Associated with Multiple Reclassified Desmosomal Gene Variants in Arrhythmogenic Right Ventricular Cardiomyopathy Patients.
Journal of cardiovascular translational research - 1 Dec 2023
Nagyova Emilia, Hoorntje Edgar T, Te Rijdt Wouter P, Bosman Laurens P, Syrris Petros, Protonotarios Alexandros, Elliott Perry M, Tsatsopoulou Adalena, Mestroni Luisa, Taylor Matthew R G, Sinagra Gianfranco, Merlo Marco, Wada Yuko, Horie Minoru, Mogensen Jens, Christensen Alex H, Gerull Brenda, Song Lei, Yao Yan, Fan Siyang, Saguner Ardan M, Duru Firat, Koskenvuo Juha W, Cruz Marino Tania, Tichnell Crystal, Judge Daniel P, Dooijes Dennis, Lekanne Deprez Ronald H, Basso Cristina, Pilichou Kalliopi, Bauce Barbara, Wilde Arthur A M, Charron Philippe, Fressart Véronique, van der Heijden Jeroen F, van den Berg Maarten P, Asselbergs Folkert W, James Cynthia A, Jongbloed Jan D H, Harakalova Magdalena, van Tintelen J Peter
Abstract excerpt
The presence of multiple pathogenic variants in desmosomal genes (DSC2, DSG2, DSP, JUP, and PKP2) in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) has been linked to a severe phenotype. However, the pathogenicity of variants is reclassified frequently, which may result in a changed clinical risk prediction. Here, we present the collection, reclassification, and clinical outcome correlation...
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