title: [Cardiometabolic abnormalities in patients with Berardinelli-Seip syndrome].
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Universidade Federal do Rio Grande do Norte, Natal, RN.
authors.forename: Antonio Guedes do
authors.initials: AG
authors.lastname: Rêgo
authors.forename: Evandro Tinoco
authors.initials: ET
authors.lastname: Mesquita
authors.forename: Carlos Alberto de
authors.initials: CA
authors.lastname: Faria
authors.forename: Marcel Alvares Guedes do
authors.initials: MA
authors.lastname: Rêgo
authors.forename: Maria de Fátima Paiva
authors.initials: Mde F
authors.lastname: Baracho
authors.forename: Maria Goretti do Nascimento
authors.initials: MG
authors.lastname: Santos
authors.forename: Eryvaldo Sócrates Tabosa do
authors.initials: ES
authors.lastname: Egito
authors.forename: José
authors.initials: J
authors.lastname: Brandão Neto
mesh_terms: D000328:Adult; D002318:Cardiovascular Diseases / Q000150:complications*; D005260:Female; D006801:Humans; D052497:Lipodystrophy, Congenital Generalized / Q000150:complications*; D008297:Male; D024821:Metabolic Syndrome / Q000150:complications*; D018709:Statistics, Nonparametric