Echocardiography identifies geometric and functional cardiac alterations in patients with Familial Partial Lipodystrophy

Abstract

Abstract Funding Acknowledgements Type of funding sources: None. Lipodystrophy (LPD) is a rare condition characterized by levels of loss of adipose tissue in a generalized or partial form. Cardiovascular disease is a significant cause of morbidity in this population,n but cardiomyopathy associated with LPD is still not well described. We sought to characterize cardiac morphology and left ventricle function in patients with partial LPD with no cardiac symptoms. Methods This is a cross-sectional case-control study. Adult patients with clinical diagnosis of familial partial LPD and Controls were invited to collect echocardiographic images prospectively. Transthoracic echocardiography was performed with conventional bidimensional and Doppler techniques and LV Speckle-tracking technique. Left atrium (LA) dimension and volumes, LV dimension, thickness, mass, and diastolic and systolic function were measured. Data between groups compared with appropriate tests according to variable distribution. Relation between echocardiographic variables and LPD diagnosis were tested with simple and multiple regression models, considering the effect of systolic arterial blood pressure (SBP) as an independent variable. The significance level was set as p <0.05. Results twenty-nine patients with LPD were compared to 17 control. LPD patients and control group did not differ in age (44.58±11.77 vs. 43.84±13.32, p = 0.94), gender, BMI (26.73±4.30 vs. 24.52±5.04 Kg/ml, p = 0.05) or BSA (1.70±0.23 vs. 1.67±0.16, p = 0.9). Patients with LPD had statistically higher SBP (122.7±14.85 vs. 110.9±11.08, p = 0.02). LPD had LA higher dimension (37.27±4.44 vs. 32.12±4.25 mm, p = 0.001) and volume (LAVi)(30.17±7.24 vs. 24.94±9.04 ml/m2, p = 0.02), LV mass_i (79.29±17.38 vs. 67.10±19.36, p = 0.02), and also reduced diastolic LV parameters as mitral tissue Doppler E' lateral (11.07±3.48 vs. 14.94±2.35 cm/s, p = 0.001) and E' septal ( 8.0±2.73 vs. 11.38±2.02 cm/s, p = 0.001, and also E/E' ratio (7.89±2.22 vs. 6.35±1.29, p = 0.02). Parameters of LV systolic function as LVEF (64.70±4.56 vs. 62.15±4.35 %, p = 0.08) or GLS were not statistically different between groups (−17.06±2.70vs. −18.02±1.98%, p = 0.25). There was a positive relation of LA dimension ( β 5.6, p<0.001), wall thickness (β 1.3, p 0.011), tissue Doppler E' lateral (β −3.5, p = 0.002) and E' septal (β −3.2, p<0.001) to LPD diagnosis, even after adjusted for SBP. Conclusion patients with familial partial LPD present early cardiomyopathy with LV hypertrophy, LA enlargement, and LV diastolic dysfunction before LV systolic dysfunction. Echocardiographic parameters are related to LPD diagnosis independent of SBP.