Genetic screening for the detection of a rare form of cardiomyopathy in a young patient with recurrent syncopes

Int J Cardiol. 2015 Mar 1:182:29-30. doi: 10.1016/j.ijcard.2014.12.079. Epub 2014 Dec 24.
No abstract available

Keywords: Arrhythmogenic cardiomyopathy; Desmocollin-2; Hypertrophic cardiomyopathy; Titin.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Angiography
  • Cardiomyopathies / complications
  • Cardiomyopathies / diagnosis*
  • Cardiomyopathies / genetics
  • DNA / genetics*
  • DNA Mutational Analysis
  • Desmocollins / genetics*
  • Desmocollins / metabolism
  • Desmosomes
  • Echocardiography
  • Genetic Testing / methods*
  • Humans
  • Magnetic Resonance Imaging, Cine
  • Male
  • Mutation
  • Rare Diseases
  • Syncope / diagnosis
  • Syncope / etiology
  • Syncope / genetics*

Substances

  • DSC2 protein, human
  • Desmocollins
  • DNA