Identification of sarcomeric variants in probands with a clinical diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC).
Brittney MurrayEdgar T HoorntjeAnneline S J M Te RieleCrystal TichnellJeroen F van der HeijdenHarikrishna TandriMaarten P van den BergJan D H JongbloedArthur A M WildeRichard N W HauerHugh CalkinsDaniel P JudgeCynthia A Jamesvan J Peter TintelenDennis DooijesPublished in: Journal of cardiovascular electrophysiology (2018)
These data show variants in the sarcomere can be identified in individuals with an ARVC phenotype. Although rare and predicted damaging, proven functional and segregational evidence that these variants can cause ARVC is lacking. Therefore, caution is warranted in interpreting these variants when identified on large next-generation sequencing panels for cardiomyopathies.