TY - JOUR
T1 - Heart rate variability alterations in Dravet Syndrome: The role of status epilepticus and a possible association with mortality risk
AU - Perulli, Marco
AU - Battista, Andrea
AU - Sivo, Serena
AU - Turrini, Ida
AU - Musto, Elisa
AU - Quintiliani, Michela
AU - Gambardella, Maria Luigia
AU - Contaldo, Ilaria
AU - Veredice, Chiara
AU - Mercuri, Eugenio Maria
AU - Lanza, Gaetano Antonio
AU - Dravet, Charlotte
AU - Delogu, Angelica Bibiana
AU - Battaglia, Domenica Immacolata
PY - 2022
Y1 - 2022
N2 - Purpose: Preliminary data suggest that patients with Dravet Syndrome (DS) have a reduced heart rate variability (HRV). This seems particularly evident in patients who experienced sudden unexpected death in epilepsy (SUDEP). This study aims at confirming these findings in a larger cohort and at defining clinical, genetic or electroencephalographic predictors of HRV impairment in DS patients. Methods: DS patients followed at our Institution performed a 24h-ECG Holter to derive HRV parameters. We used as control population patients with epilepsy (PWEs) and healthy controls (HCs). In DS patients, we assessed the impact of different clinical, neurophysiological and genetic features on HRV alterations through multiple linear regression. After a mean follow-up of 7.4 ± 3.2 years since the HRV assessment, all DS patients were contacted to record death or life-threatening events. Results: 56 DS patients had a significantly reduced HRV compared to both HCs and PWEs. A recent history of status epilepticus (SE) was the only significant predictor of lower HRV in the multivariate analysis. At follow-up, only one patient died; her HRV was lower than that of all the controls and was in the low range for DS patients. Conclusion: We describe for the first time an association between SE and HRV alterations in DS. Further studies on other SCN1A-related phenotypes and other epilepsies with frequent SE will help clarify this finding. Compared to the literature, our cohort showed better HRV and lower mortality. Although limited, this observation reinforces the role of HRV as a biomarker for mortality risk in DS.
AB - Purpose: Preliminary data suggest that patients with Dravet Syndrome (DS) have a reduced heart rate variability (HRV). This seems particularly evident in patients who experienced sudden unexpected death in epilepsy (SUDEP). This study aims at confirming these findings in a larger cohort and at defining clinical, genetic or electroencephalographic predictors of HRV impairment in DS patients. Methods: DS patients followed at our Institution performed a 24h-ECG Holter to derive HRV parameters. We used as control population patients with epilepsy (PWEs) and healthy controls (HCs). In DS patients, we assessed the impact of different clinical, neurophysiological and genetic features on HRV alterations through multiple linear regression. After a mean follow-up of 7.4 ± 3.2 years since the HRV assessment, all DS patients were contacted to record death or life-threatening events. Results: 56 DS patients had a significantly reduced HRV compared to both HCs and PWEs. A recent history of status epilepticus (SE) was the only significant predictor of lower HRV in the multivariate analysis. At follow-up, only one patient died; her HRV was lower than that of all the controls and was in the low range for DS patients. Conclusion: We describe for the first time an association between SE and HRV alterations in DS. Further studies on other SCN1A-related phenotypes and other epilepsies with frequent SE will help clarify this finding. Compared to the literature, our cohort showed better HRV and lower mortality. Although limited, this observation reinforces the role of HRV as a biomarker for mortality risk in DS.
KW - Dravet syndrome
KW - HRV
KW - Heart rate variability
KW - Mortality
KW - SCN1A
KW - SUDEP
KW - Dravet syndrome
KW - HRV
KW - Heart rate variability
KW - Mortality
KW - SCN1A
KW - SUDEP
UR - http://hdl.handle.net/10807/197162
U2 - 10.1016/j.seizure.2021.11.023
DO - 10.1016/j.seizure.2021.11.023
M3 - Article
SN - 1059-1311
VL - 94
SP - 129
EP - 135
JO - Seizure : the journal of the British Epilepsy Association
JF - Seizure : the journal of the British Epilepsy Association
ER -