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

BackgroundDuchenne 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.MethodsCurrent 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.Results113 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.ConclusionIn 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.

The value of cardiac MRI versus echocardiography in the pre-operative assessment of patients with Duchenne muscular dystrophy

“…Ultimately, progressive heart failure and death were associated with widespread and particularly septal LGE involvement. 19 The authors conclude that the time course and distribution of LGE may be a useful clinical biomarker for DMD-associated cardiac disease. Further evidence has emerged showing that particularly an impaired LVEF and a "transmural" pattern of LGE appear to predict the occurrence of adverse cardiac events in DMD patients.…”

Management of Cardiac Involvement Associated With Neuromuscular Diseases: A Scientific Statement From the American Heart Association

“…In recent studies, late gadolinium enhancement (LGE) was found to increase in prevalence with increasing age (from 17% in DMD patients <10 years old to 59% in those >15 years old) and decreasing LVEF. 157 Typically, LGE in DMD and BMD is subepicardial or midwall progressing to transmural and is located in the inferolateral LV. 148,[158][159][160] Myocardial fibrosis burden, quantified as number of LGE-positive myocardial segments, is associated with decline in EF, 161 and transmural LGE was also recently reported to have additive value above LVEF alone in predicting hospitalization for HF or occurrence of ventricular tachycardia.…”

Cardiac Management of Ventilator-Assisted Individuals with Duchenne Muscular Dystrophy

“…However, despite the clinical challenges, CMR imaging has been shown to be sensitive for early findings of cardiac disease prior to systolic dysfunction including reduced myocardial circumferential strain and areas of fibrosis identified with the use of late gadolinium enhancement. [26][27][28] CMR has also been used to characterize the pattern of remodelling and changes in LV geometry that occur with cardiac disease in DMD as a unique process not fully explained by the traditional thinking of progressive dilated cardiomyopathy. 29 CMR is not currently included in clinical guidelines for DMD, but it is a promising area of research to further understand the development and progression of cardiac disease in this population.…”