Eduarda Vieira Rodrigues et al. Antonio Pedro Lima Costa Pereira Wilson Braz Correa Filho Maria Angelica de Faria Domingues de Lima … Marcio Aloysio Freitas Siqueira Junior Ana Paula Cassetta dos Santos Nucera Fabio de Souza
Abstract
Duchenne muscular dystrophy (DMD) is a muscular disease genetically linked to the DMD gene, which encodes dystrophin, a protein that is crucial for the integrity of skeletal muscle and myocytes. This condition follows an X-linked inheritance pattern. Female carriers are typically asymptomatic; however, they may develop cardiomyopathy, making screening for structural heart disease advisable. We conducted a cross-sectional study to assess the prevalence of subclinical left ventricular (LV) dysfunction, defined by reduced global longitudinal strain (GLS), in asymptomatic female DMD carriers. Participants underwent 2-dimensional speckle tracking echocardiography following a standardized protocol, with GLS values ≤ 18% classified as reduced. Continuous variables were described as mean ± standard deviation and categorical variables as percentages. The association between left ventricular ejection fraction (LVEF) and GLS was assessed using Pearson’s correlation coefficient. The significance level adopted was 5%. Using a convenience sample, 17 participants (mean age 39 ± 5 years) were enrolled. No significant changes were observed in LV diameters, and the mean LVEF was 62% ± 5%. Reduced GLS was identified in 3 participants, indicating a prevalence of 17.6% for subclinical LV dysfunction. A weak correlation was found between GLS and LVEF (r = 0.366). Our findings indicate that approximately 1 in 6 female DMD carriers had subclinical LV dysfunction. These results highlight the need for genetic counseling for mothers of patients with DMD, as well as early screening with sensitive methods to detect heart disease in female DMD carriers.