Progressive conduction disturbance in myotonic dystrophy

Cardiol J. 2011;18(3):322-5.

Abstract

Myotonic dystrophy (DM), the commonest dystrophy in adults, is an autosomal dominant disease characterized by a variety of multisystemic features. Two main genetically distinct forms of DM have been identified: type 1 (DM1), the classic form first described by Steinert, and type 2 (DM2), identified by Ricker. DM1 is caused by trinucleotide expansion of cytosine- -thymine-guanine (CTG) in the myotonic dystrophy protein kinase gene, whereas in DM2 the expansion of tetranucleotide repeats (CCTG) in the zinc finger protein 9 gene was identified. Both mutations are dynamic and are located in non-coding parts of the genes. Phenotype variability of DM1 and DM2 is caused by a molecular mechanism due to mutated RNA toxicity. DM1 is characterized by myotonia and multi-organ damage with major cardiac involvement. The disease is usually slowly progressive and life expectancy is reduced by the increased mortality associated with cardiopulmonary complications. Sudden death can occur as a consequence of cardiac-conduction abnormalities. We present the ECG of a 26 year-old male with DM1 and progressive conduction system disturbance characterized by syncopal episodes.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Atrioventricular Block / diagnosis
  • Atrioventricular Block / etiology*
  • Atrioventricular Block / physiopathology*
  • Disease Progression
  • Electrocardiography
  • Heart Conduction System / physiopathology*
  • Humans
  • Male
  • Myotonic Dystrophy / complications*
  • Myotonic Dystrophy / physiopathology*
  • Syncope / diagnosis
  • Syncope / etiology
  • Syncope / physiopathology