Abstract
BackgroundThis study was designed to assess whether cardiovascular magnetic resonance imaging (CMR) in Duchenne muscular dystrophy carriers (DMDc) may index any cell milieu elements of LV dysfunction and whether this cardiac phenotype may be related to genotype. The null hypothesis was that myocardial fibrosis, assessed by late gadolinium enhancement (LGE), might be similarly accounted for in DMDc and gender and age-matched controls.MethodsThirty DMDc patients had CMR and genotyping with 37 gender and age-matched controls. Systolic and diastolic LV function was assessed by 2D-echocardiography.ResultsAbsolute and percent LGE were higher in muscular symptomatic (sym) than asymptomatic (asy) DMDc (1.77 ± 0.27 vs 0.76 ± 0.17 ml; F = 19.6, p < 0.0001 and 1.86 ± 0.26% vs 0.68 ± 0.17%, F = 22.1, p < 0.0001, respectively). There was no correlation between LGE and age. LGE was seen most frequently in segments 5 and 6; segment 5 was involved in all asy-DMDc. Subepicardial LGE predominated, compared to the mid-myocardial one (11 out of 14 DMDc). LGE was absent in the subendocardium. No correlations were seen between genotyping (type of mutation, gene region and protein domain), confined to the exon’s study, and cardiac phenotype.ConclusionsA typical myocardial LGE-pattern location (LV segments 5 and 6) was a common finding in DMDc. LGE was more frequently subepicardial plus midmyocardial in sym-DMDc, with normal LV systolic and diastolic function. No genotype-phenothype correlation was found.
Highlights
This study was designed to assess whether cardiovascular magnetic resonance imaging (CMR) in Duchenne muscular dystrophy carriers (DMDc) may index any cell milieu elements of left ventricular (LV) dysfunction and whether this cardiac phenotype may be related to genotype
Xp21-linked Duchenne muscular dystrophy carrier (DMDc) status is characterized by skeletal muscle weakness ranging from absence of muscular symptoms to mild or even rapidly progressive Duchenne-like muscular dystrophy
The muscle disease may be associated with cardiac involvement, from no symptoms to overt dilated cardiomyopathy (DCM)
Summary
This study was designed to assess whether cardiovascular magnetic resonance imaging (CMR) in Duchenne muscular dystrophy carriers (DMDc) may index any cell milieu elements of LV dysfunction and whether this cardiac phenotype may be related to genotype. The null hypothesis was that myocardial fibrosis, assessed by late gadolinium enhancement (LGE), might be accounted for in DMDc and gender and age-matched controls. The muscle disease may be associated with cardiac involvement, from no symptoms to overt dilated cardiomyopathy (DCM). Myocardial fibrosis is best detected and quantified by cardiovascular magnetic resonance (CMR) [9] both in ischemic [10] and nonischemic heart diseases [11] and may be accurately detected by late gadolinium enhancement (LGE). LGE studies were undertaken in DMDc quite rarely and few case reports exist [12,13]
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