Novel dilated cardiomyopathy associated to Calreticulin and Myo7A gene mutation in Usher syndrome

Andrea Frustaci, Alessandro De Luca, Nicola Galea, Romina Verardo, Valentina Guida, Rosalba Carrozzo, Cristina Chimenti, Emanuela Frustaci, Luigi Sansone, Matteo Antonio Russo

Research output: Contribution to journalArticlepeer-review


We report a novel cardiomyopathy associated to Usher syndrome and related to combined mutation of MYO7A and Calreticulin genes. A 37-year-old man with deafness and vision impairment because of retinitis pigmentosa since childhood and a MYO7A gene mutation suggesting Usher syndrome, developed a dilated cardiomyopathy with ventricular tachyarrhythmias and recurrent syncope. At magnetic resonance cardiomyopathy was characterized by left ventricular dilatation with hypo-contractility and mitral prolapse with valve regurgitation. At left ventricular endomyocardial biopsy, it was documented cardiomyocyte disconnection because of cytoskeletal disorganization of cell-to-cell contacts, including intercalated discs, and mitochondrial damage and dysfunction with significant reduction of adenosine triphosphate production in patient cultured fibroblasts. At an extensive analysis by next-generation-sequencing of 4183 genes potentially related to the cardiomyopathy a pathogenic mutation of calreticulin was found. The cardiomyopathy appeared to be functionally and electrically stabilized by a combination therapy including carvedilol and amiodarone at a follow-up of 18 months.

Original languageEnglish
Pages (from-to)2310-2315
Number of pages6
JournalESC heart failure
Issue number3
Publication statusAccepted/In press - 2021


  • CALR
  • Calreticulin
  • Cardiomyocyte disconnection
  • MYO7A
  • Usher syndrome

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine


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