Abstract:
OBJECTIVES:Duchenne muscular dystrophy (DMD) is the most common and severe dystrophinopathy. DMD carriers rarely present with clinical symptoms, but may suffer from cardiac involvement. Because echocardiographic findings are inconsistent and cardiac magnetic resonance imaging (CMRI) data are limited, this study sought to investigate asymptomatic carriers for cardiac abnormalities using CMRI. METHODS:Fifteen genetically confirmed DMD carriers (age, 32.3 ± 10.2 years) were prospectively examined on a 1.5T MR system. Cine, T2, and late-gadolinium-enhanced (LGE) images were acquired, and were evaluated in consensus by two experienced readers. Left ventricular (LV) parameters were analysed semiautomatically, normalized to BSA. RESULTS:Normalized LV end-diastolic volume was increased in 7% (73.7 ± 16.8 ml/m(2); range, 48-116 ml/m(2)) and normalized LV end-systolic volume in 20% (31.5 ± 13.3 ml/m(2); range, 15-74 ml/m(2)). EF was reduced in 33% (58.4 ± 7.6%; range, 37-69%) and normalized LV myocardial mass in 80% (40.5 ± 6.8 g/m(2); range, 31-55 g/m(2)). In 80%, regional myocardial thinning was detected in more than one segment. In 13% and 40%, apical-lateral accentuation of LV non-compaction was present. LGE was found in 60% (midmyocardial inferolateral accentuation). CONCLUSIONS:Given the high frequency of cardiac pathologies detected by CMRI, regular cardiac risk assessment is advisable for DMD carriers. Besides clinical examination, CMRI is an excellent tool for this purpose. KEY POINTS:• Fifteen Duchenne muscular dystrophy carriers investigated using CMRI all showed cardiac pathologies. • Myocardial mass reduction, regional myocardial thinning, and late gadolinium enhancement were common. • Regular cardiac risk assessment is thus advisable in Duchenne muscular dystrophy carriers. • Besides clinical examination, CMRI is an excellent tool for this purpose.
journal_name
Eur Radioljournal_title
European radiologyauthors
Schelhorn J,Schoenecker A,Neudorf U,Schemuth H,Nensa F,Nassenstein K,Forsting M,Schara U,Schlosser Tdoi
10.1007/s00330-015-3694-3subject
Has Abstractpub_date
2015-10-01 00:00:00pages
3066-72issue
10eissn
0938-7994issn
1432-1084journal_volume
25pub_type
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