Patterns of late gadolinium enhancement in Duchenne muscular dystrophy carriers

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.

Myocardial late gadolinium enhancement is associated with clinical presentation in Duchenne muscular dystrophy carriers

“…Owing to their longevity DMD-carriers often develop heart failure in the absence of classical causes such as ischemic or inflammatory heart disease. According to our data, diastolic dysfunction does not appear to be associated with LGE according to our data; this is borne out by the findings of others [ 35 ]. Screening for morphological signs might thus help to detect subjects who are at risk in terms of developing cardiomyopathy.…”

Duchenne Dilated Cardiomyopathy: Cardiac Management from Prevention to Advanced Cardiovascular Therapies

“…The presence of subepicardial LGE in the inferolateral free LV wall is a common finding in CMR of DMD patients [ 39 ] ( Figure 1 ). In nearly 45% of DMD female carriers, a similar LGE distribution is observed [ 36 , 37 , 40 ] and it is also associated with a higher clinical class severity and myocardial enzyme release [ 41 ]. CMR is also useful to follow the development of LGE over time in DMD patients and carriers able to predict early LVEF decline, considering the higher LVEF reduction described in DMD patients with LGE, independently from age and steroid therapy [ 42 ].…”

Unusual Myocardial Late Gadolinium Enhancement in Isolated Noncompaction Cardiomyopathy

“…2 In addition, LGE has been reported in patients with cardiac involvement in a neuromuscular disorder. 4 In a study of 12 patients with LVHT, LGE was a discriminator between LVHT and dilated and hypertrophic cardiomyopathy. 5 In a study of 47 LVHT patients, LGE was detected in 19 of them.…”