A Systematic Analysis of the Clinical Outcome Associated with Multiple Reclassified Desmosomal Gene Variants in Arrhythmogenic Right Ventricular Cardiomyopathy Patients
- Nagyova E.
- Hoorntje E. T.
- Rijdt W. P.
- Bosman L. P.
- Syrris P.
- Protonotarios A.
- Elliott P. M.
- Tsatsopoulou A.
- Mestroni L.
- Taylor M. R. G.
- Sinagra G.
- Merlo M.
- Wada Y.
- Horie M.
- Mogensen J.
- Christensen A. H.
- Gerull B.
- Song L.
- Yao Y.
- Fan S.
- Saguner A. M.
- Duru F.
- Koskenvuo J. W.
- Cruz Marino T.
- Tichnell C.
- Judge D. P.
- Dooijes D.
- Lekanne Deprez R. H.
- Basso C.
- Pilichou K.
- Bauce B.
- Wilde A. A. M.
- Charron P.
- Fressart V.
- van der Heijden J. F.
- van den Berg M. P.
- Asselbergs F. W.
- James C. A.
- Jongbloed J. D. H.
- Harakalova M.
- van Tintelen J. P.
DOIAbstract
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 variants to date (n = 331). After reclassification, only 29% of patients remained carriers of two (likely) pathogenic variants. They reached the composite endpoint (ventricular arrhythmias, heart failure, and death) significantly earlier than patients wi...
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