A rare case report of severe cardiomyopathy associated with myotonic dystrophy type 2

Research output: Contribution to journalArticlepeer-review


Background: Myotonic dystrophies (DM) are multi-systemic diseases characterized by muscle weakness and myotonia. Despite a growing appreciation for the cardiovascular manifestations in myotonic dystrophy type 1 (DM1), cardiac involvement in myotonic dystrophy type 2 (DM2) has been less well characterized. In patients with DM2, cardiomyopathy has rarely been described. Case summary: This case report describes a rare case of DM2 associated cardiomyopathy. A 56-year-old male with DM2 who presented with palpitations and fatigue. Cardiac magnetic resonance (CMR) imaging confirmed a severely enlarged left ventricular cavity with a left ventricular ejection fraction of 28% consistent with severely reduced global systolic function. The lateral wall epicardium exhibited late gadolinium enhancement in a pattern seen in myotonic dystrophy-related cardiomyopathy. Discussion: This case highlights the potential for significant cardiovascular involvement in DM2, as well as the importance of screening, including CMR imaging, and therapy in the myotonic dystrophy patient population.

Original languageEnglish (US)
Article numberytac015
JournalEuropean Heart Journal - Case Reports
Issue number3
StatePublished - Mar 1 2022

Bibliographical note

Publisher Copyright:
© 2022 The Author(s) 2022. Published by Oxford University Press on behalf of the European Society of Cardiology.


  • Cardiac magnetic resonance
  • Cardiomyopathy
  • Case report
  • Chronic heart failure
  • Genetic disorders
  • Myotonic dystrophy
  • Reduced ejection fraction

PubMed: MeSH publication types

  • Case Reports


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