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Autonomic modulation in patients with congenital generalized lipodystrophy (Berardinelli-Seip syndrome)
Carlos A Faria1, Ruy S Moraes, Dário C Sobral-Filho
1Postgraduate Program in Health Sciences, Federal University of Rio Grande do Norte, Health Sciences Center, Rua Gal. Gustavo Cordeiro de Farias, s/n, 59 010-180 Natal, RN, Brazil.
Aims:
This study was designed to assess cardiac autonomic regulation in congenital generalized lipodystrophy (CGL) patients using 24 h heart rate variability (HRV).
Methods And Results:
A cross-sectional study was carried out to evaluate 18 patients with CGL and 19 healthy controls matched by sex and age. We measured blood pressure, plasma concentrations of glucose, triglycerides, cholesterol, high-density lipoprotein-cholesterol, insulin resistance by the homeostatic model assessment (HOMA-R), left ventricular mass (LVM) (by two-dimensional echocardiography), and 24 h HRV (by the time domain indices MeanRR, SDNN, and rMSSD). Compared with controls, CGL patients had higher blood pressure (systolic, 131.1 vs. 106.3 mmHg, P < 0.05; diastolic, 85.0 vs. 68.2 mmHg, P < 0.05) and 10 patients met criteria for arterial hypertension and concentric left ventricular hypertrophy (LVM index > or =115 g/m(2)and relative left ventricular wall thickness > or =0.42). Patients with CGL had higher levels of glucose, triglycerides, cholesterol, and HOMA-R and 12 met criteria for type 2 diabetes mellitus. Compared with controls, CGL patients had lower MeanRR (639.8 vs. 780.5 ms, P < 0.001), SDNN (79.2 vs. 168.5 ms, P < 0.001), and rMSSD (15.8 vs. 59.6 ms, P < 0.001). In CGL patients, the reduction in HRV was independent of the metabolic and haemodynamic disturbances.
Conclusion:
Congenital generalized lipodystrophy patients have abnormal autonomic modulation, reflected by increased heart rate and pronounced reduction in HRV, independent of the metabolic and haemodynamic disturbances observed in this disorder.
