Myocardial Strain Assessment by 2D Speckle-Tracking Echocardiography in Patients with Congenital Myopathy

Background: Congenital myopathies (CMs) are a group of rare genetic muscle disorders. Cardiac involvement can be seen in these patients. We aimed to evaluate the myocardial strain parameters by 2D speckle-tracking echocardiography (STE) in patients with CM. Materials and Methods: Twenty-four patients with CM whose diagnosis was confirmed by genetic analysis or muscle biopsy were included in the study, and 48 patients were involved as a control group. Left ventricular ejection fraction (LVEF%) was calculated by biplane Simpson method, and myocardial strain analysis was performed by 2D STE. Results: The median age of the study population was 26 (19–35 interquartile range [IQR]) and 43 (60%) were women. In the analysis performed after the exclusion of two patients with multiminicore disease (MMD) who developed heart failure, although mild, LVEF% (62 [60–65 IQR] vs. 64 [63–66 IQR], P = 0.008) and right ventricular global longitudinal strain (RVGLS) were significantly lower in the CM group (−21.8 [−19.7, −24.9 IQR] vs. −23.9 [−22.4, −25.6 IQR], P = 0.0017). Left ventricular global longitudinal strain (LVGLS) was observed similarly in both groups (−19.9 [−18.7, −20.7 IQR] vs. −20.5 [−19.3, −21.9 IQR], P = 0.069). LVEF% (33 and 46), LVGLS (−7.5 and −10.7), and RVGLS (−14.9 and −16.1) values were low in two siblings with MMD. Conclusion: Although LVEF% and RVGLS were significantly lower in the CM group, LVGLS was similar. The decrease in RVGLS and LVEF% was mild, and heart failure was not observed in any patient except MMD patients who were not included in the analysis.