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Sudden Death of a Carrier of X-Linked Emery-Dreifuss Muscular Dystrophy

Michael C. Fishbein, MD; Robert J. Siegel, MD; Charlotte E. Thompson, MD; and Linton C. Hopkins, MD
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From Cedars-Sinai-UCLA Medical Center, Los Angeles, California; Center for Handicapped Children and Teenagers, San Francisco, California; Emory University School of Medicine, Atlanta, Georgia. Requests for Reprints: Michael C. Fishbein, MD, Department of Pathology, Room 8732, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048. Acknowledgments: The authors thank Dr. John Carney of the Department of Pathology, Eden Hospital Medical Center, and Dr. Harrison Latta of the Department of Pathology, UCLA Medical Center, for allowing us to review autopsy tissues and sections; and Jean Havercroft for providing secretarial assistance.

Copyright 2004 by the American College of Physicians

Ann Intern Med. 1993;119(9):900-905. doi:10.7326/0003-4819-119-9-199311010-00006
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Objective: To report a sudden death in a female carrier of Emery-Dreifuss muscular dystrophy and to describe the cardiac abnormalities associated with this disease.

Study Design: Case series.

Setting: University hospital.

Patients: A 45-year-old carrier who died suddenly and two affected men who also died of cardiac manifestations of Emery-Dreifuss muscular dystrophy.

Measurements: Post-mortem gross pathologic and histopathologic study of the heart.

Results: All three hearts showed a unique pattern of pathologic findings. Marked loss of atrial myocardium had occurred. Myocardium had been replaced by adipose and fibrous tissue. The conduction system showed no significant abnormalities. Varying degrees of interstitial and replacement fibrosis were present in the ventricular myocardium.

Conclusions: Emery-Dreifuss muscular dystrophy is associated with characteristic pathologic changes in the heart that can cause death in female carriers and affected men. Female carriers should be identified and evaluated because of the risk for sudden cardiac death.


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Figure 1A. 1B and C.
Electrocardiographic and pathologic findings in patient 1.; Gross photograph of right atrium in patient 1. Panel B.

Electrocardiographic tracing showing an accelerated junctional escape rhythm (rate, 60 beats/min), QRS voltage suggestive of left ventricular hypertrophy, and a prolonged QT interval of 560 ms (one half the standard calibration of V leads).

The wall is thin and translucent. Thicker regions are pale because of the replacement of myocytes with adipose tissue (arrow). Panel C. Sections through right (RA) and left (LA) atria to show transmural replacement of myocardium with adipose tissue.

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Figure 2.
Normal and abnormal atrial findings.Panel A.Panel B.Panel C.Panel D.

Control right atrial wall from a young trauma victim showing normal musculature. Right atrium from patient 1 showing region replaced by adipose tissue. Control sinoatrial node region from young trauma victim. Sinoatrial node region from patient 1. The most prominent finding is the total absence of myocytes in the atrial tissue surrounding the sinoatrial node. The asterisk indicates the sinoatrial node artery. (Trichrome stain; original magnification, x l0.).

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Figure 3.
Atrial findings in patients 2 and 3.Panel A.Panel B.Panel C.Panel D.

Atrial wall of patient 2 has been replaced by fibroadipose tissue, with no myocardium present. Region of the atrioventricular node showing marked intimal proliferation of arteries. Myocardium is absent in this region of the right atrium. The left atrial wall of patient 3 is thin and has few remaining myocytes within dense fibrous tissue. The atrioventricular node (N) appears normal. The arteries are normal in this region (compared with the arteries in the region of the atrioventricular node in patient 2). (Trichrome stain; original magnification, x l0.).

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