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Images and Case Reports in Arrhythmia and Electrophysiology

Cardiac Myotonic Dystrophy Mimicking Arrhythmogenic Right Ventricular Cardiomyopathy in a Young Sudden Cardiac Death Victim

Alex Hoerby Christensen, MD; Henning Bundgaard, MD, DMSc; Marianne Schwartz, MSc, PhD; Steen Holger Hansen, MD and Jesper Hastrup Svendsen, MD, DMSc

From the Departments of Cardiology (A.H.C., H.B., J.H.S.), Clinical Genetics (M.S.), Forensic Medicine (S.H.H.), Rigshospitalet; The Danish National Research Foundation Centre for Cardiac Arrhythmia (A.H.C., J.H.S.), Copenhagen; and Surgery and Medicine, Faculty of Health Sciences, University of Copenhagen (J.H.S.), Copenhagen, Denmark.

Correspondence to Alex Hoerby Christensen, MD, Department of Cardiology 2142, The Heart Centre, Blegdamsvej 9, DK-2100 Copenhagen, Denmark. E-mail alexhc@dadlnet.dk.

An extract of the first 250 words of the full text is provided, because this article has no abstract.

An 11-year-old girl sitting in the kitchen suddenly complained of dizziness. Seconds later, she collapsed and had cardiac arrest. Cardiopulmonary resuscitation was initiated immediately but was unsuccessful, despite prolonged efforts. The girl was previously healthy and had never experienced any cardiac or muscular symptoms.

At autopsy, the gross examination was normal. The heart weighed 230 g; the chamber sizes, wall thicknesses, and myocardial appearance were normal. Microscopic examination of the right ventricular myocardium showed marked fibrofatty replacement (Figures 1 and 2). No replacements were found in the left ventricular myocardium or in the skeletal musculature. On this basis, it was concluded that the cause of death was arrhythmogenic right ventricular cardiomyopathy (ARVC).

View larger version (102K):   Figure 1. Biopsy from the right ventricular free wall showing fibrofatty replacement. Hematoxylin-eosin stain, magnification x25.

 

View larger version (150K):   Figure 2. Biopsy from the right ventricular free wall showing fibrofatty replacement. Van Gieson stain, magnification x100.

 
The patient’s relatives (Figure 3) were referred for clinical and genetic counseling because of presumed ARVC-related death in the family. At the interview, it was revealed that an aunt had a child with severe myotonic dystrophy type 1 (DM1). Careful examination revealed that the patients brother and father had vague muscular symptoms and that the father previously had cataract surgery. It was hypothesized that the cause of death was unrecognized cardiac DM1 instead of ARVC. Genetic testing of the patient, her brother, and her father revealed a high number of CTG repeats in the dystrophia myotonica protein kinase (. . . [Full Text of this Article]

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