Early Signs of Autonomic Nervous System Imbalance in Children with High Cardiometabolic Risk.

OBJECTIVE: Autonomic nervous system is involved in many disorders, and changes in its modulation are the known risk factors for cardiovascular diseases. Its role in metabolic disarrangements in children at high cardio-metabolic risk is not known. Aim of the study is to analyze the relation between clinical-metabolic parameters and autonomic nervous system in children. MATERIALS AND METHODS: Children affected by type 1 diabetes (group 1), obesity (group 2), and control group (group 3) were enrolled. Autonomic nervous system functionality was assessed with dynamic tests (The Expiration to Inspiration indexes-E/I delta and ratio, 30:15 Ratio Test, Systolic blood pressure response to standing-deltaPA), and ultrasonography was performed to evaluate Intima Media Thickness (cIMT). Clinical parameters were recorded. RESULTS: The study popultaion had a total of 75 children with mean age of 12.5 ± 2.8 years: 26 in group 1, 28 in group 2, 21 in group 3. Obese children had higher cIMT z-score (P < .001). Diabetic patients had lower EI delta values (P < .001) and 30:15 ratio test (P = .01). There was an inverse correlation between E/I delta and microalbuminuria levels (rho -0.955, P < .001) and 30:15 ratio test and microalbuminuria (rho -0.936, P < .001) in group 1, even after adjustment for age. DeltaPA was higher in obese (P = .032) and correlated with BMI z-score and homeostatic model assessment. CONCLUSION: Our results highlight imbalances in sutonomic nervous system function in children at high metabolic risk, in particular with involvement of parasympathetic function in type 1 Diabetes Mellitus and sympathetic one in obesity. An early screening could lead to a prompt identification of these alterations and could have a predictive role on cardio-metabolic risk.

Long QT syndrome in chromosome 7q35q36.3 deletion involving KCNH2 gene: Warning for chlorpheniramine prescription.

BACKGROUND: The deletion of the distal 7q region is a rare chromosomal syndrome characterized by wide phenotypic manifestations including growth and psychomotor delay, facial dysmorphisms, and genitourinary malformations. METHODS: We describe a 6-year-old child with a 12-Mb deletion of the region 7q35q36.3. RESULTS: Among the deleted genes, two genes have cardiac implications: PRKAG2 (OMIM #602743), associated with hypertrophic cardiomyopathy, cardiac conduction disease, and sudden death, and KCNH2 (OMIM #152427), coding for a cardiac potassium channel involved in long QT syndrome, unmasked by the chlorpheniramine treatment. At same time, the SHH gene (OMIM #600725), encoding sonic hedgehog, a secreted protein that is involved in the embryonic development, is deleted. CONCLUSION: Our report underlines potential cardiac complications linked to the common pharmacological treatment in this rare multiorgan and proteiform disease.