Ontology highlight
ABSTRACT:
SUBMITTER: Nagyova E
PROVIDER: S-EPMC10721666 | biostudies-literature | 2023 Jul
REPOSITORIES: biostudies-literature
Nagyova Emilia E Hoorntje Edgar T ET Te Rijdt Wouter P WP Bosman Laurens P LP Syrris Petros P Protonotarios Alexandros A Elliott Perry M PM Tsatsopoulou Adalena A Mestroni Luisa L Taylor Matthew R G MRG Sinagra Gianfranco G Merlo Marco M Wada Yuko Y Horie Minoru M Mogensen Jens J Christensen Alex H AH Gerull Brenda B Song Lei L Yao Yan Y Fan Siyang S Saguner Ardan M AM Duru Firat F Koskenvuo Juha W JW Cruz Marino Tania T Tichnell Crystal C Judge Daniel P DP Dooijes Dennis D Lekanne Deprez Ronald H RH Basso Cristina C Pilichou Kalliopi K Bauce Barbara B Wilde Arthur A M AAM Charron Philippe P Fressart Véronique V van der Heijden Jeroen F JF van den Berg Maarten P MP Asselbergs Folkert W FW James Cynthia A CA Jongbloed Jan D H JDH Harakalova Magdalena M van Tintelen J Peter JP
Journal of cardiovascular translational research 20230707 6
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 for the largest series of ARVC patients carrying multiple desmosomal pathogenic vari ...[more]