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Europace Advance Access originally published online on April 17, 2009
Europace 2009 11(6):763-769; doi:10.1093/europace/eup095
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Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2009. For permissions please email: journals.permissions@oxfordjournals.org

Non-invasive Electrophysiology

Autonomic modulation in patients with congenital generalized lipodystrophy (Berardinelli-Seip syndrome)

Carlos A. Faria1, Ruy S. Moraes2, Dário C. Sobral-Filho3, Antônio G. Rego1, Maria F.P. Baracho1, Eryvaldo S.T. Egito1 and José Brandão-Neto1,*

1 Postgraduate Program in Health Sciences (PPGCSA), Federal University of Rio Grande do Norte (UFRN), Health Sciences Center (CCS), Rua Gal. Gustavo Cordeiro de Farias, s/n, 59 010-180 Natal, RN, Brazil; 2 Hospital de Clínicas de Porto Alegre (HCPA) Cardiology Department, Federal University of Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil; 3 Oswaldo Cruz University Hospital, College of Medical Sciences of Pernambuco, Pernambuco University (UPE), Recife, PE, 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 ≥115 g/m2and relative left ventricular wall thickness ≥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.

Key Words: Heart rate variability, Congenital generalized lipodystrophy, Berardinelli-Seip syndrome, Autonomic nervous system

* Corresponding author. Tel: +55 84 3215 4220, Fax: +55 84 3215 4220, Email: cfaria{at}act.psi.br or jbn{at}ppgcsa.com.br

Manuscript submitted 19 December 2008. Accepted after revision 23 March 2009.


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