Rare variants associated with arrhythmogenic cardiomyopathy: Reclassification five years later

Marta Vallverdú-Prats, Mireia Alcalde, Georgia Sarquella-Brugada, Sergi Cesar, Elena Arbelo, Anna Fernandez-Falgueras, Mónica Coll, Alexandra Pérez-Serra, Marta Puigmulé, Anna Iglesias, Victoria Fiol, Carles Ferrer-Costa, Bernat Del Olmo, Ferran Picó, Laura Lopez, Paloma Jordà, Ana García-Álvarez, Coloma Tirón De Llano, Rocío Toro, Simone GrassiAntonio Oliva, Josep Brugada, Ramon Brugada, Oscar Campuzano

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

2 Citazioni (Scopus)


Genetic interpretation of rare variants associated with arrhythmogenic cardiomyopathy (ACM) is essential due to their diagnostic implications. New data may relabel previous variant classifications, but how often reanalysis is necessary remains undefined. Five years ago, 39 rare ACM-related variants were identified in patients with features of cardiomyopathy. These variants were classified following the American College of Medical Genetics and Genomics’ guidelines. In the present study, we reevaluated these rare variants including novel available data. All cases carried one rare variant classified as being of ambiguous significance (82.05%) or likely pathogenic (17.95%) in 2016. In our comprehensive reanalysis, the classification of 30.77% of these variants changed, mainly due to updated global frequencies. As in 2016, nowadays most variants were classified as having an uncertain role (64.1%), but the proportion of variants with an uncertain role was significantly decreased (17.95%). The percentage of rare variants classified as potentially del-eterious increased from 17.95% to 23.07%. Moreover, 83.33% of reclassified variants gained cer-tainty. We propose that periodic genetic reanalysis of all rare variants associated with arrhythmo-genic cardiomyopathy should be undertaken at least once every five years. Defining the roles of rare variants may help clinicians obtain a definite diagnosis.
Lingua originaleEnglish
pagine (da-a)1-14
Numero di pagine14
RivistaJournal of Personalized Medicine
Stato di pubblicazionePubblicato - 2021


  • Arrhythmogenic cardiomyopathy
  • Genetics
  • Rare variants
  • Reclas-sification
  • Sudden cardiac death


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