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A rare case report of severe cardiomyopathy associated with myotonic dystrophy type 2
Anja M Touma1, Prabhjot S Nijjar2, Georgios E Manousakis3
1Medical School, Medical Scientist Training Program (MSTP), University of Minnesota Medical School, Twin Cities, Minneapolis, MN 55455, USA.
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.
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