Myocardial Layer-Specific Strain Analysis in Children with Mitochondrial Disease.

PURPOSE: Children with mitochondrial disease (MD) have clinical phenotypes that are more severe than those found in adults. In this study, we assessed cardiac function in children with MD using conventional and advanced echocardiographic measurements, explored any unique patterns present, and investigated the development of early cardiomyopathy (CMP).

MATERIALS AND METHODS: We retrospectively reviewed the medical records of 33 children with MD. All patients underwent transthoracic echocardiography with conventional and advanced myocardial analysis. We compared all data between patients and an age-matched healthy control group.

RESULTS: Conventional echocardiographic diastolic measurements of mitral E, E/A, and tissue Doppler E' were significantly lower and E/E' was significantly higher in children with MD, compared with the measurements from the control group. There was no significant difference in longitudinal and radial strain between the groups. Circumferential strain in the endocardium (p=0.161), middle myocardium (p=0.008), and epicardium (p=0.042) were lower in patients, compared to the values in controls. Circumferential strain was correlated with E' (p<0.01, r>0.60).

CONCLUSION: In children with MD, myocardial circumferential strain may develop early in all three layers, even with normally preserved longitudinal and radial strain. This may be an early diagnostic indicator with which to predict CMP in this patient population.