Cardiovascular magnetic resonance imaging based comparison of myocardial involvement in a patient with LGMD 2C and a patient with Becker muscular dystrophy

Cardiac involvement in patients with a sarcoglycanopathy (limb-girdle muscular dystrophy, LGMD) and dystrophinopathy has been described previously. Here we present detailed cardiovascular magnetic resonance (CMR) data of a patient with γ-sarcoglycanopathy (LGMD 2C) and a patient with Becker muscular dystrophy (BMD). In the 24-year-old male patient with genetically proven BMD and minor skeletal muscle involvement, CMR cine-images demonstrated a slightly reduced left ventricular systolic function (EF 48%) with regional hypokinesia in the inferolateral wall. Contrast-imaging was performed using an inversion-recovery gradient-echo technique. Late gadolinium enhancement (LGE) indicative of myocardial damage was detected in the subepicardium of the LV inferolateral wall. The 23-year-old male patient with genetically proven γ-sarcoglycanopathy demonstrated also minor skeletal muscle abnormalities in his extremities, but had no cardiac complaints. The CMR study revealed a slightly reduced LV systolic function (EF 51%) with regional hypokinesia in the inferolateral wall. Contrast-imaging showed a subepicardial distribution of LGE in the inferolateral wall. Although cardiac involvement in patients with LGMD has been described previously, this is the first CMR study demonstrating such a LGE pattern. Moreover, the wall motion abnormality and the pattern of LGE in the patient with a γ-sarcoglycanopathy is in agreement with the findings in the previous patient with BMD. Thus, one may suggest that abnormalities within either the dystrophin- or the sarcoglycan-complex result in diffusely reduced cardiomyocyte stability which in turn enables the occurrence of myocardial damage. The predominance of LGE in the subepicardial layers of the LV inferolateral wall further suggests that such a myocardial damage pattern represents a non-specific cardiac phenotype in response to exaggerated mechanical stress in this region.