title: Electrical and autonomic cardiac function in patients with Dravet syndrome.
abstract: Dravet syndrome (DS) is an epileptic encephalopathy related mainly to mutations in the SCN1A gene, encoding for neuronal sodium channels. Patients with DS have a high risk of sudden unexpected death in epilepsy (SUDEP). In this study we investigated whether patients with DS present abnormalities in electrical and autonomic cardiac function. To this aim we assessed ventricular repolarization and heart rate variability (HRV) on standard electrocardiography (ECG) and on 24-h ECG Holter monitoring, respectively, in 20 patients affected by DS (6.8 ± 4 years, 11 female). As age- and sex-matched control groups, we also studied 20 patients with other epileptic syndromes receiving antiepileptic drugs (ES/AED, 6.0 ± 5 years, 12 female), 20 patients with other epileptic syndromes without treatment (ES/no-AED, 6.7 ± 4 years, 10 female), and 20 healthy children (HC, 7.2 ± 5 years, 11 females). Data analysis showed that patients with DS had depressed HRV variables compared to both ES patients (ES/AED and ES/no-AED) and HC control group, whereas no significant differences in HRV variables were found between ES patients (with and without treatment) and HC. There was no significant difference between patients with DS and all the other control groups in RR intervals, QT, and QTc interval analysis. In conclusion, DS patients display an imbalance of cardiac autonomic function toward a relative predominance of adrenergic tone compared to both healthy children and patients with other forms of epilepsy, independent of antiepileptic therapy. Follow-up studies should clarify the clinical significance of this autonomic impairment and whether HRV analysis can be helpful in predicting the risk of sudden death in patients with DS.
authors.affiliation: Pediatric Cardiology Unit, Department of Pediatrics Cardiology, Università Cattolica del Sacro Cuore, Roma, Italy. abdelogu@rm.unicatt.it
authors.forename: Angelica B
authors.initials: AB
authors.lastname: Delogu
authors.forename: Antonella
authors.initials: A
authors.lastname: Spinelli
authors.forename: Domenica
authors.initials: D
authors.lastname: Battaglia
authors.forename: Charlotte
authors.initials: C
authors.lastname: Dravet
authors.forename: Alessia
authors.initials: A
authors.lastname: De Nisco
authors.forename: Annalisa
authors.initials: A
authors.lastname: Saracino
authors.forename: Costantino
authors.initials: C
authors.lastname: Romagnoli
authors.forename: Gaetano A
authors.initials: GA
authors.lastname: Lanza
authors.forename: Filippo
authors.initials: F
authors.lastname: Crea
mesh_terms: D001341:Autonomic Nervous System / Q000502:physiology; D002320:Cardiovascular Physiological Phenomena / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D004562:Electrocardiography / Q000379:methods; D015716:Electrocardiography, Ambulatory / Q000379:methods; D004831:Epilepsies, Myoclonic / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D005260:Female; D006339:Heart Rate / Q000502:physiology*; D006801:Humans; D008297:Male; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics; D015222:Sodium Channels / Q000235:genetics; D013577:Syndrome
chemical_list: D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels