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. RESULTS: The patients were predominantly young adults, most of whom women. The whole sample showed insulin resistance, acanthosis nigricans and diminished HDL-cholesterol. The presence of splenomegaly, hepatomegaly, type II diabetes and elevated triglycerides was constant. Metabolic syndrome was characterized in most patients, which were predominantly women and with a high degree of paternal consanguinity. SAH and prehypertension blood pressure were found in more than half of the patients (77.3%). The echodopplercardiogram showed the presence of CLVH (50%), eccentric left ventricular hypertrophy (4.5%), and normal left ventricular geometry (45.5%). High arrhythmia rates were observed by Holter monitoring, such as ventricular ectopic beats, supraventricular ectopic beats and sustained supraventricular tachycardia. Chronotropic incompetence (54.5%) was observed during exercise testing. CONCLUSION: A high prevalence of cardiovascular and metabolic abnormalities was observed in young asymptomatic individuals with BSS. These findings point to the need for systematic cardiological follow-up and of preventive measures in this high-risk group.
Lipodystrophy, Congenital Generalized; Metabolism; Cardiovascular Diseases; Lipid Metabolism
