Cardiac involvement in a female carrier of Duchenne muscular dystrophy.
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.
Walcher
Thomas
T
Kunze
Markus
M
Steinbach
Peter
P
Sperfeld
Anne-Dorte
AD
Burgstahler
Christof
C
Hombach
Vinzenz
V
Torzewski
Jan
J
D000328:Adult; D001706:Biopsy; D016189:Dystrophin / Q000235:genetics*; D005260:Female; D006333:Heart Failure / Q000235:genetics* / Q000473:pathology* / Q000628:therapy; D006579:Heterozygote; D006801:Humans; D008279:Magnetic Resonance Imaging; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics* / Q000473:pathology*
C484258:DMD protein, human; D016189:Dystrophin