Cardiac involvement in total generalized lipodystrophy (Berardinelli- Seip syndrome)

Abstract

Total generalized lipodystrophy (Berardinelli--Seip Syndrome) is a rare hereditary disease characterized by insulin-resistant diabetes mellitus and a small quantity of adipose tissue and is of unknown origin. Common cardiovascular alterations related to this syndrome are cardiac hypertrophy and arterial hypertension. This article reports a case of Berardinelli--Seip syndrome and reviews the literature with special emphasis on the cardiovascular manifestations of this syndrome

Anormalidades cardiovasculares e metabólicas em pacientes com a síndrome de Berardinelli-Seip

“…These results were similar to those found in the literature (table 1) 3,6,10,11,14,15,17 . The association between low HDL-c and elevated TG greatly increase the risk factors for cardiovascular diseases 24 .…”

“…In this study, the prevalence of paternal consanguinity; type II diabetes mellitus; insulin resistance; acanthosis nigricans; hepatomegaly; splenomegaly; decreased HDL-c; and increased TG was similar to those found in the literature (table1) 3,6,10,11,14,15,17 .…”

“…Unlike other studies that identified high rates of diastolic dysfunction through the assessment of transmitral flow 7,8,13,14 , no left ventricular diastolic dysfunction was found in any of our patients, even after the Valsalva maneuver was used. Another finding that differed from the literature 8,11,15,38,39 was the presence of systolic dysfunction.…”

“…In the present study, only 1 patient was found with increased inner LV diameters (eccentric hypertrophy) (table 2). The histologic differentiation with classical hypertrophic cardiomiopaty is due to the absence of fiber disarrangement in lipodystrophyassociated hypertrophy 12,14 .…”

“…There are fewer than twenty reports on cardiac alterations, with sample size not exceeding 10 patients [7][8][9][10][11][12][13][14] . These studies showed that the most frequent cardiovascular alterations were cardiac hypertrophy; cardiomegaly and hypertrophic cardiomyopaty; particularly 0 asymetric septal hypertrophy; left ventricular dysfunction; and systemic arterial hypertension (SAH) [7][8][9][10][11][12][13][14][15][16][17] . There is only one case report in Brazil in which cardiac alterations were described 14 .…”