期刊
INTERNATIONAL JOURNAL OF CARDIOLOGY
卷 138, 期 3, 页码 302-305出版社
ELSEVIER IRELAND LTD
DOI: 10.1016/j.ijcard.2008.06.084
关键词
Coronary angiography; Duchenne muscular dystrophy; Heart failure; Magnetic resonance imaging; Moleculargenetic analysis; Myocardial biopsy
A 42 year-old female carrier of Duchenne muscular dystrophy (DMD) was referred with suspected subacute myocarditis and non-sustained ventricular tachycardia. Echochardiography and cardiac catheterization revealed severely reduced left ventricular function (LVF). Coronary artery disease was excluded. Cardiac magnetic resonance imaging showed transmural, intramural and subepicardial late gadolinium enhancement. Myocardial biopsy excluded viral infection and showed severe myopathic changes with abnormal expression of dystrophin and utrophin. Moleculargenetic analysis of the DMD gene revealed frameshift duplication of exon 2. The patient received conventional heart failure therapy, implantable cardioverter/defibrillator-implantation and prednisolone to attenuate cardiac degradation. 6 months later she had improved clinically though LVF was still severely reduced. (C) 2008 Elsevier Ireland Ltd. All rights reserved.
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