Sudden death in mild hypertrophic cardiomyopathy with compound DSG2/DSC2/MYH6 mutations: Revisiting phenotype after genetic assessment in a master runner athlete

Stefano Castellana, Sandra Mastroianno, Pietro Palumbo, Orazio Palumbo, Tommaso Biagini, Maria Pia Leone, Giovanni De Luca, Domenico Rosario Potenza, Cesare Maria Amico, Tommaso Mazza, Aldo Russo, Giuseppe Di Stolfo, Massimo Carella

Research output: Contribution to journalArticle


Cardiomyopathies represent a well-known cause of heart failure and sudden death. Although cardiomyopathies are generally categorized in distinct nosographic entities, characterized by single gene-to-disease causal relationships, recently, oligogenic mutations have also been associated to relevant cardiac clinical features. We report the case of a master athlete carrying trigenic mutations in desmoglein-2 (DSG2), desmocollin-2 (DSC2) and heavy chain myosin 6 (MYH6), which determine a mild hypertrophic phenotype associated both to ventricular tachyarrhythmias and atrio-ventricular block. We discuss the differential diagnosis and prognostic approach in patient affected by complex cardiomyopathy phenotype, along with the importance of sport restriction and sudden death prevention.

Original languageEnglish
Pages (from-to)95-99
Number of pages5
JournalJournal of Electrocardiology
Publication statusPublished - Mar 1 2019



  • Complex cardiomyopathy phenotype
  • Next Generation Sequencing
  • Sudden cardiac death

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

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