[Cardiometabolic abnormalities in patients with Berardinelli-Seip syndrome].
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.
Rêgo
Antonio Guedes do
AG
Universidade Federal do Rio Grande do Norte, Natal, RN.
Mesquita
Evandro Tinoco
ET
Faria
Carlos Alberto de
CA
Rêgo
Marcel Alvares Guedes do
MA
Baracho
Maria de Fátima Paiva
Mde F
Santos
Maria Goretti do Nascimento
MG
Egito
Eryvaldo Sócrates Tabosa do
ES
Brandão Neto
José
J
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