Early-onset late gadolinium enhancement is a prognostic factor for Duchenne cardiomyopathy

Abstract Hypothesis: Dilated cardiomyopathy (DCM) is an inevitable complication of Duchenne muscular dystrophy (DMD). Late gadolinium enhancement (LGE) on MRI occurs in DMD-related DCM, indicating myocyte death and remodeling. We hypothesize that patients with earlier onset of LGE develop a more rapid decline in heart function.Methods: We conducted a retrospective chart review, reviewing clinical data for DMD patients identified between January 2009 and July 2013. Subjects were cohorted by presence of LGE before age 14. We excluded patients in whom LGE status prior to age 14 was indeterminate. Results: Of the 41 subjects with complete data, 15 demonstrated LGE before age 14 (“early LGE”), and 26 had no LGE by age 14 (“controls”). Those with early LGE exhibited more rapid decline in LV fractional shortening (p=0.028). Patients with early LGE were younger at age of initiation of ACE inhibition (p=0.025), mineralocorticoid receptor antagonism (p= 0.0024), and beta blockade (p=0.0017), suggesting aggressive clinical management in response to abnormal MRI. There were no significant differences in LV dilation between the two groups (p=0.1547). Early LGE was not associated with obesity (p=0.32), age at loss of ambulation (p=0.31), or type of mutation. Conclusion: Early onset of myocardial fibrosis demonstrated by LGE on cardiac MRI is associated with earlier progression of cardiomyopathy despite earlier medication therapy. Identifying this risk, observed in 34% of our cohort during preadolescence, may guide medical therapy and counseling about cardiomyopathy progression. We suggest obtaining at least one MRI in DMD patients prior to age 14 to risk stratify patients.