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

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
JournalESC heart failure
Publication statusAccepted/In press - 2021


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

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine


Dive into the research topics of 'Novel dilated cardiomyopathy associated to Calreticulin and Myo7A gene mutation in Usher syndrome'. Together they form a unique fingerprint.

Cite this