Prevalence and distribution of late gadolinium enhancement in a large population of patients with Duchenne muscular dystrophy: effect of age and left ventricular systolic function

Abstract

Background: Duchenne muscular dystrophy (DMD), an X-linked disorder affects approximately 1 in 5000 males, is universally associated with heart disease. We previously identified myocardial disease by late gadolinium enhancement (LGE) in DMD subjects at various stages of disease, but the true prevalence is unclear. Cardiovascular magnetic resonance (CMR) is well established for both assessment of ventricular function and myocardial fibrosis by LGE. We sought to establish i) prevalence and distribution of LGE in a large DMD population and ii) relationship among LGE, age, LVEF by CMR and current living status.

Methods: Current living status, demographic and CMR data including ventricular volumes, LVEF and LGE from 314 DMD patients undergoing evaluation at a single large tertiary referral center were analyzed.

Results: 113 of 314 (36%) of DMD subjects showed LGE positivity with prevalence increasing from 17% of patients <10 years to 34% of those aged 10-15 years and 59% of those >15 years-old. Patients with LVEF ≥55% were LGE positive in 30% of cases; this increased to 84% for LVEF <55%. LGE was more prevalent in the free wall (531/1243, 42.7%) vs. septal segments (30/565, 5.3%). Patients with septal involvement were significantly older and had lower LVEF than those with isolated free wall LGE. Ten percent (11/113) patients who had LGE died 10.8 months after CMR. Only one patient from the LGE negative group died. Patients who died had higher heart rate, larger left ventricular volume and mass, greater number of positive LGE segment and increase incident of septal LGE compared to those who remained alive.

Conclusion: In DMD patients, LGE occurs early, is progressive and increases with both age and decreasing LVEF. Segmentally, the incidence of the number of positive LGE segments increase with age and lower LVEF. Older patients and those who died during the study period had more septal LGE involvement. The current studies suggest that the time course and distribution of LGE-positivity may be an important clinical biomarker to aid in the management of DMD-associated cardiac disease.

Figure 1

Examples of LGE by CMR. (Top Panel) 12 year old DMD patient with no LGE (dark myocardium), (Middle Panel) 8.5 year old DMD patient with LGE in the free wall only (bright areas shown by yellow arrows) and (Bottom Panel) 18 year old DMD patient LGE involving multiple segments including the septum (bright areas shown by red arrows).

Figure 2

Scatter graph of LVEF versus age. The LVEF of LGE negative (blue diamonds) and LGE positive (red square) patients are plotted against age demonstrating LGE was associated with older age and lower LVEF.

Figure 3

Scatter plot of number of LGE positive segment versus age and LVEF. Scatter Plot of the Number of LGE positive segment compared to age (A) and LVEF (B). The number of LGE positive segments was associated older age and lower LVEF.

Figure 4

Global and segmental LGE. (A) LGE was more prevalent in the free wall segments (red) compared to the septal segments (gray) 42.7% (531/1243) versus 5.3% (30/565). (B) Segmentally, free wall segments (red) were more commonly affected with LGE than the septal segments (gray).