Echocardiographic assessment of cardiac function and morphology in patients with generalised lipodystrophy

Abstract

Because cardiomegaly has been observed in lipodystrophic patients we studied cardiac morphology and function with one- and two-dimensional echocardiography in addition to general cardiologic examination in a series of seven patients. Muscular hypertrophy with increased chamber size and myocardial indentations were found. Two patients had asymmetrical septal hypertrophy (ASH), and two patients demonstrated systolic anterior movement (SAM) of the mitral valve. Wall motion analysis showed anomalities in four patients during contraction, in three during the early relaxation phase. Since pathological findings, probably increasing with age, were made in the majority of the patients, these findings add an additional unfavourable aspect to the syndrome.

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

“…Hepatomegaly 4-6,8 is a frequent finding and was also found in our patient, in spite of her well-preserved liver function, which is contrary to findings by Bjornstad 4 . Hypertriglyceridemia has been reported [3][4][5][6] .…”

“…The biochemical anomalies found in this syndrome have, as a basic mechanism, an abnormal response to insulin action and the incapability of producing adipose tissue 2 . Other characteristics include gum hypertrophy, hepatomegaly affecting liver functions, hypertriglyceridemia, acanthosis nigricans, arterial hypertension, hirsutism, nephropathy, and cardiac hypertrophy [3][4][5][6] . Although this syndrome was described 40 years ago, little has been reported about its cardiovascular manifestations and its prognosis.…”

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

“…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.…”

“…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 .…”

Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation

“…Cardiac involvement in CGL has been reported in the literature [9][10][11][12][13][14][15] but there are no cases describing early onset cardiac failure, as in our case. Bjornstad et al [9] reported 6 cases of BSCL presenting myocardial hypertrophy, and Rheuban et al [10] described 4 other similar cases.…”