Patterns of left ventricular remodeling in patients with Duchenne Muscular Dystrophy: a cardiac MRI study of ventricular geometry, global function, and strain

The cardiac disease ubiquitously associated in Duchenne Muscular Dystrophy (DMD) has traditionally been considered a progressive dilated cardiomyopathy (DCM). However, left ventricular (LV) dilatation as measured with cardiac MRI has not been a consistent finding in this population, even as circumferential strain (ε_cc) declines with advancing disease. We hypothesized that a distinct pattern of changes in LV geometry, during the course of ε_cc decline, distinguishes DMD associated heart disease from DCM. Using CMR, LV end-diastolic volume (EDV), mass (LVM), ejection fraction, ε_cc and myocardial delayed enhancement (MDE) were determined in DMD patients and normal control subjects. The LV Remodeling Index (LVRI) was calculated as the ratio of LV Mass to Volume (LVM/EDV). Statistical comparisons between all LV parameters and genotype were also performed. Median LVRI in DMD (n = 127) and control subjects (n = 41) were different (0.75 vs. 0.65, P = 0.0150) but within normal range. Furthermore, the median LVRI in DMD boys with reduced LV systolic function was significantly reduced compared to those with normal LV systolic function (0.64 vs. 0.75, P = 0.0974). However, the presence of MDE was associated with a lower median LVRI (0.57 vs. 0.76, P = 0.0471). Regression analysis showed no significant correlation between ε_cc and LVRI (r = −0.03). The LVRI of DMD patients is unexpectedly normal and not correlated with ε_cc. Based on these findings, DMD-associated heart disease exhibits a unique remodeling pattern distinct from DCM.