ECG markers for sudden cardiac death in idiopathic epilepsy
| Componente | Categoria |
|---|---|
| Camillo Autore | Componenti strutturati del gruppo di ricerca |
| Componente | Qualifica | Struttura | Categoria |
|---|---|---|---|
| Paolo Tisei | Dirigente Medico | UOS Elettroencefalografia, Epilessia e Disturbi del Sonno, AOU Sant¿Andrea | Altro personale aggregato Sapienza o esterni, titolari di borse di studio di ricerca |
| Francesca Palano | Dirigente Medico | Laboratorio di Elettrofisiologia, UOC Cardiologia, AOU Sant'Andrea | Altro personale aggregato Sapienza o esterni, titolari di borse di studio di ricerca |
| Anna Luchetti | Dirigente Medico | Neuropsichiatra Infantile, ambulatorio per l'Epilessia, A.O.U. Sant'Andrea | Altro personale aggregato Sapienza o esterni, titolari di borse di studio di ricerca |
| Germani Aldo | Dottorando di Ricerca | biotecnologie mediche applicate alla genetica medica; Dipartimento di Medicina Clinica e Molecolare | Altro personale aggregato Sapienza o esterni, titolari di borse di studio di ricerca |
| Savio Camilla | Personale tecnico | biotecnologie mediche applicate alla genetica medica; Dipartimento di Medicina Clinica e Molecolare | Altro personale aggregato Sapienza o esterni, titolari di borse di studio di ricerca |
BACKGROUND. Idiopathic epilepsy is a neuronal disorder and involves abnormal ion channel function. As compared to the general population, people with epilepsy have an increased risk of sudden cardiac death (SCD) due to ventricular tachycardia (VT) or fibrillation (VF) irrespective of traditional cardiovascular risk factors.
J-wave syndromes, including the early repolarization syndrome (ERS) and Brugada syndrome (BrS), are genetically-determined cardiac ion channelopathies. ERS and BrS portend a risk of polymorphic VT and VF leading to SCD in young adults with no apparent structural heart disease.
Pathophysiological mechanisms that underlie the increased risk of SCD in epilepsy (SUDEP) remain unknown. However, ion channels co-expressed in heart and brain may have a role, supporting the emerging concept of a genetically determined cardiocerebral channelopathy. Overlapping aetiologies might putatively explain at least in part the increased risk of SCD in patients with idiopathic epilepsy.
STUDY AIMS. The present research proposal aims to:
1. assess whether the prevalence of Brugada and ERP syndromes are increased in people with generalized idiopathic epilepsy,
2. investigate whether family screening of affected probands helps to identify (a) previously unrecognized asymptomatic BrS/ERP subjects, and (b) genotype-positive subjects with incomplete expression of either the epileptic or the arrhythmic phenotype.
STUDY PROTOCOL. Cases will consist of patients with confirmed idiopathic generalized epilepsy aged >14 years and normal brain MRI. Controls of comparable age will be enrolled within the same geographical area.
In all, medical history and resting 12-lead ECG will be recorded. Further assessment involving 12 lead Holter ECG and genetic testing will be performed according to the results of baseline ECG and the presence of familial history of SCD. Family members of newly identified ERP/BrS patients will be screened with ECG and genetic testing.