Background: Berardinelli-Seip syndrome (BSS) or Generalized Congenital Lipodystrophy often affects the cardiovascular system and also promotes metabolic abnormalities involving glycidic and lipid metabolisms.
Objective: To assess the prevalence of cardiometabolic abnormalities in patients with BSS.
Methods: Twenty-two patients from the state of Rio Grande do Norte, Brazil, diagnosed with BSS, underwent clinical evaluation, resting electrocardiogram, echodopplercardiogram, chest X-ray, 24-hour ambulatory electrocardiogram monitoring, exercise testing and laboratory analysis.
Aims: This study was designed to assess cardiac autonomic regulation in congenital generalized lipodystrophy (CGL) patients using 24 h heart rate variability (HRV).
Methods And Results: A cross-sectional study was carried out to evaluate 18 patients with CGL and 19 healthy controls matched by sex and age. We measured blood pressure, plasma concentrations of glucose, triglycerides, cholesterol, high-density lipoprotein-cholesterol, insulin resistance by the homeostatic model assessment (HOMA-R), left ventricular mass (LVM) (by two-dimensional echocardiography), and 24 h HRV (by the time domain indices MeanRR, SDNN, and rMSSD).