Sudden death of a carrier of X-linked Emery-Dreifuss muscular dystrophy.
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.


METHODS
Case series.


METHODS
University hospital.


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


METHODS
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 Myocardium had been replaced by adipose and fibrous tissue.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.
Fishbein
M C
MC
Cedars-Sinai-UCLA Medical Center.
Siegel
R J
RJ
Thompson
C E
CE
Hopkins
L C
LC
D000328:Adult; D003645:Death, Sudden / Q000209:etiology / Q000473:pathology*; D005260:Female; D006325:Heart Atria / Q000473:pathology; D006329:Heart Conduction System / Q000473:pathology; D006352:Heart Ventricles / Q000473:pathology; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009136:Muscular Dystrophies / Q000235:genetics / Q000473:pathology*; D020389:Muscular Dystrophy, Emery-Dreifuss; D009206:Myocardium / Q000473:pathology*; D012307:Risk Factors; D014960:X Chromosome