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Dilated cardiomyopathy of Becker-type muscular dystrophy with exon 4 deletion--a case report
M Saotome1, Y Yoshitomi, S Kojima
1Division of Cardiology, Tohsei National Hospital, Shizuoka, Japan.
Abstract:
The authors report a 47-year-old man with Becker-type muscular dystrophy presenting with dilated cardiomyopathy. Left ventriculography showed diffuse severe hypokinesia: left ventricular end-diastolic volume index 193 mL/m2, left ventricular end-systolic volume index 143 mL/m2, and left ventricular ejection fraction 26%. Skeletal muscle biopsy demonstrated a dystrophic process. Genetic analysis revealed a deletion of exon 4. There was a difference in immunostaining pattern between skeletal muscles and cardiac muscles. Severe cardiac dysfunction in this case may be associated with the damage in dystrophin-deficient fibers.
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