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Background Chronic progressive external ophtalmoplegia (CPEO) and Kearns-Sayre syndrome (KSS) belong to the broad heterogeneous group of mitochondrial myopathies (MM) a group of neuromuscular disorders resulting from primary dysfunction of the mitochondrial chain with impaired cellular energy metabolism. Recently, a potentially characteristic myocardial fibrosis pattern with intramural late gadolinium enhancement (LGE) in the left ventricular (LV) inferolateral wall was documented by cardiovascular magnetic resonance imaging (CMR) in these patients. The present study aimed at characterizing the presence and pattern of cardiac abnormalities in a larger CPEO/KSS patient population by means of CMR. Based on the fact that patients with other MM syndromes may show a concentric LV remodelling/hypertrophy (e.g. mitochondrial encephalopathy with lactic acidosis and stroke-like episodes MELAS) this aspect was also evaluated.

Cardiac abnormalities in patients with two different mitochondrial myopathy syndromes as detected by cardiovascular magnetic resonance imaging