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De novo ADGRV1 variant in a patient with ictal asystole provides novel clues for increased risk of SUDEP

Acta Epileptologica 2023年第2期6卷 118-126页

作者： Tuo Ji Aaron W.Downs Luong Dorris Ning Zhong SQZ Biotechnologies WatertownMA 02472USA Morrissey College of Arts and Sciences Boston CollegeChestnut HillMA 02467USA College of Medicine California Northstate UniversityElk GroveCA 95757USA Pediatric and Adolescent Medicine Residency of Mayo Clinic MNRochesterUSA Department of Neurology Kaiser Permanente Sacramento Medical CenterSacramentoCA 95825USA North Valley Comprehensive Epilepsy Program Kaiser Permanente Sacramento Medical CenterSacramentoCA 95825USA

Background Various cardiac and autonomic manifestations are frequently reported during *** the seizure-related arrhythmia,ictal tachycardia is the most common,followed by ictal bradycardia,with ictal asystole being the *** occurrence of ictal asystole may obscure the clinical presentation and delay the diagnosis,representing a life-threatening presentation of epilepsy,with an elevated risk of sudden unexpected death in epilepsy patients(SUDEP).These cardiac abnormalities are being increasingly recognized as the key to elucidating the mechanisms of *** presentation We present a 35-year-old man with a history of focal-onset seizures with impaired consciousness since his mid-20 *** developed different types of seizures for 2 years,described as tonic seizure and atonic seizure(drop attack).During such clinical events,he suffered from falls and cardiac ***,thorough cardiac electrophysiology and imaging workup failed to reveal a cardiac *** video electroencephalograph(EEG)monitoring was performed,and ictal bradycardia and ictal asystole were discovered.A cardiac pacemaker was implanted,and at 3-year follow-up,the patient did not suffer more atonic seizures,or *** tests discovered a de novo variant of Adhesion G Protein-Coupled Receptor V1(ADGRV1),which may provide a clue for the patient’s ictal asystole and the increased risk of *** Considering the important impact of ictal bradycardia and asystole on the morbidity and potential mortality of epileptic patients,it is important to simultaneously utilize EEG and electrocardiogram to confirm the *** case report highlights the link between the de novo variant of ADGRV1 and the ictal bradycardia/asystole phenotype and implicates the importance of genetic testing in adult epilepsy patients.

关键词： ictal asystole Drug resistant epilepsy ADGRV1 SUDEP

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Brain Rattled, Heart Shackled: ictal asystole in a Patient without Prior History of Epilepsy or Arrhythmia

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World Journal of Cardiovascular Diseases 2022年第4期12卷 228-235页

作者： Joseph Berger Martin Sayegh Anish D. Thomas Cara Sherman Vikas Agrawal Jay V. Doshi Internal Medicine Department St. John’s Riverside Hospital Yonkers New York USA Lake Erie College of Osteopathic Medicine Erie Pennsylvania USA Neurology Department St. John’s Riverside Hospital Yonkers New York USA Cardiac Electrophysiology Department St. John’s Riverside Hospital Yonkers New York USA

We present a case of ictal asystole in an 81-year-old female, with no prior history of epileptic activity, or cardiac history suggestive of arrhythmia, who suffered several seemingly unrelated epileptic and asystolic episodes prior to finally having a witnessed seizure followed by an asystolic event. Following this event, all atrioventricular (AV) nodal blockers, and medications with potential seizure threshold lowering activity were stopped, and anti-epileptic medication was optimized. Due to the wishes of the patient’s family, no invasive interventions were ***, the patient continued to be medically treated with anti-epileptic therapy and had no further asystolic events. Unfortunately, the patient’s overall clinical status deteriorated, and she subsequently passed during her hospital stay after being made do not resuscitate and do not intubate (DNR/DNI) by the family and then subsequently comfort care. Prior to her passing, however, she had remained free of epileptic events for 10 days and free of asystolic events for 21 days.

关键词： Seizure Epilepsy asystole Cardiac Arrest ictal asystole Arrhythmia Cardiac Pacing Electroencephalogram Ertapenem

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