Achados ecocardiográficos em crianças de pacientes com diagnóstico de síndrome do PRKAG2

Abstract

Background: PRKAG2 syndrome typically manifests in adolescence and early adulthood along with left ventricular hypertrophy, arrhythmias, and increased risk of sudden death. Echocardiographic marker findings before clinical manifestation in children of PRKAG2 parents can facilitate prevention strategies and therapeutic planning. Objective: Identify the existence of early echocardiographic findings in asymptomatic children of PRKAG2 parents. Methods: Cross-sectional observational study of seven children, aged between 9 months and 12 years, of PRKAG2 parents was compared to a control group matched by sex and age with no cardiovascular disease. All children underwent conventional and advanced echocardiographic techniques. Results: Conventional echocardiography showed higher values with statistical significance in the case group for left atrium, interventricular septum, left ventricular posterior wall, indexed ventricular mass, and relative wall thickness. Global longitudinal strain obtained from the two-dimensional examination showed no statistical significance between the groups. None of the parameters on the three dimensional echocardiogram showed statistical significance between the groups. Conclusion: Children diagnosed with PRKAG2 presented echocardiographic findings suggestive of a tendency to cardiac hypertrophy. Echocardiography can be a useful tool in the evaluation and follow-up of these patients before the onset of clinical manifestations.