Arrhythmogenic Channelopathy Syndromes Presenting as Refractory Epilepsy

Hazle, Matthew A.; Shellhaas, Renée A.; Bradley, David J.; Dick, Macdonald; LaPage, Martin J.

doi:10.1016/j.pediatrneurol.2013.03.017

Cited by 18 publications

(8 citation statements)

References 12 publications

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“…[11,14] Cardiac arrhythmias due to unrecognized cardiac channelopathies have been described as one of the possible underlying causes that might provoke SUDEP. [15] The diagnostic error usually occurs in patients presenting with arrhythmic syncope and a secondary convulsive episode caused by brain hypoxia, but the…”

Section: Discussionmentioning

confidence: 99%

Prognostic impact of misdiagnosis of cardiac channelopathies as epilepsy

Ramos-Maqueda¹,

Jiménez²,

Macías-Ruiz³

et al. 2020

PLoS ONE

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Introduction Cardiac channelopathies are a frequent cause of sudden cardiac death (SCD) and often manifest with convulsive syncope, leading to a misdiagnosis of epilepsy. We aim to evaluate the clinical impact of epilepsy misdiagnosis in a cohort of patients with cardiac channelopathies. Methods Fifty probands/families with a cardiac channelopathy were included. We retrospectively collected information from medical records to identify all patients who presented with convulsive syncope and were diagnosed with epilepsy after neurological evaluation. Clinical data and outcome were compared with those of patients without a previous epilepsy diagnosis. Results Eight patients had a previous diagnosis of epilepsy. At first episode, 3 of them presented a positive family history of SCD and 5 showed a pathological electrocardiogram; half presented with sudden cardiac arrest (SCA) and the rest with recurrent syncope despite treatment with 1 or more anti-epileptic drugs. Five patients had long QT syndrome, 2 had catecholaminergic polymorphic ventricular tachycardia, and 1 had Brugada syndrome. Epilepsy misdiagnosis was associated with an increased risk of SCA/SCD (OR 6.92, P = .04), a delay of 12 years (P = .047) in correct diagnosis, and a delay from first symptom to channelopathy diagnosis of 18.45 years (P < .0001). Conclusion Cardiac channelopathy patients can be misdiagnosed with epilepsy. This involves a delayed diagnosis, a delay from the first symptom to a correct diagnosis, and an increased risk of SCA/SCD.

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Section: Discussionmentioning

confidence: 99%

Prognostic impact of misdiagnosis of cardiac channelopathies as epilepsy

Ramos-Maqueda¹,

Jiménez²,

Macías-Ruiz³

et al. 2020

PLoS ONE

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“…Channelopathy-associated mutations have been identified in 13% of patients with SUDEP [46]. Seizures triggered by exercise, emotion, sudden stimuli, seizures unresponsive to anti-seizure medications and seizures in the setting of family history of SD, syncope or obvious electrocardiographic abnormalities should all be viewed with high index of suspicion for underlying channelopathy [47]. In patients with BrS, fever is a well-known arrhythmogenic trigger because SCN5A mutations alter the temperature sensitivity of fast inactivation of the Na + channel.…”

Section: Heart Channelopathies and Systemic Involvementmentioning

confidence: 99%

Inherited Ventricular Arrhythmias, the Channelopathies and SCD; Current Knowledge and Future Speculation – Epidemiology and Basic Electrophysiology

Abdulgader¹

2020

Sudden Cardiac Death

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This chapter represents advanced scientific exploration in the different disciplines of SCD and channelopathy. Epidemiology of SCD and channelopathy is given special attention. The essence of detailed electrophysiological bases of the different diseases of channelopathies and the diverse cellular pathways mandated detailed discussion that can open the closed doors that we faced to the next generation(s). Special sections have been devoted to spatial as well as temporal heterogeneity of the cardiac action potential. Genetic heterogeneity and allelic heterogeneity are two prominent findings of channelopathies that confirm the fact of the major overlap in the field. The way we present the clinical findings is a true call for the next generation(s) of clinicians and researchers to revolutionize the field in the near future. Detailed management plans based on the up to date basic sciences findings for the different channelopathies give better therapeutic options for the clinicians in the field. Unique to this chapter is the new directions to look for channelopathies beyond the human body. The new understanding of the psychophysiological well-being of HRV and the sympathovagal balance extending to cosmic resonances and its possible effect on cardiac ion channels carries new era of promising preventive, diagnostic and therapeutic options.

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“…Other “red flags” for CPVT presenting as seizures include occurrence with exercise or emotional stress, seizures nonresponsive to antiepileptic medications, a family history of sudden death before the age of 30 years, or family history of recurrent syncope. [ 31 ]…”

Section: Clinical Associationsmentioning

confidence: 99%

Catecholaminergic polymorphic ventricular tachycardia: An exciting new era

Behere

Weindling

2016

Ann Pediatr Card

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Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a highly malignant inheritable cardiac channelopathy. The past decade and a half has provided exciting new discoveries elucidating the genetic etiology and pathophysiology of CPVT. This review of the current literature on CPVT aims to summarize the state of the art in our understanding of the genetic etiology and the molecular pathogenesis of CPVT, and how these relate to our current approach to diagnosis and management. We will also shed light on groundbreaking new work that will continue to refine the management of CPVT in the future. As our knowledge of CPVT continues to grow, further studies will yield a better understanding of the efficacy and pitfalls of established diagnostic approaches and therapies as well as help shape newer diagnostic and treatment strategies. Two separate searches were run on the National Center for Biotechnology Information's (NCBI) website. The first used the medical subject headings (MeSH) database using the term “catecholaminergic polymorphic ventricular tachycardia” that was run on the PubMed database using the age filter (birth to 18 years), and it yielded 58 results. The second search using the MeSH database with the search term “catecholaminergic polymorphic ventricular tachycardia,” applying no filters yielded 178 results. The abstracts of all these articles were studied and the articles were categorized and organized. Articles of relevance were read in full. As and where applicable, relevant references and citations from the primary articles were further explored and read in full.

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Arrhythmogenic Channelopathy Syndromes Presenting as Refractory Epilepsy

Cited by 18 publications

References 12 publications

Prognostic impact of misdiagnosis of cardiac channelopathies as epilepsy

Prognostic impact of misdiagnosis of cardiac channelopathies as epilepsy

Inherited Ventricular Arrhythmias, the Channelopathies and SCD; Current Knowledge and Future Speculation – Epidemiology and Basic Electrophysiology

Catecholaminergic polymorphic ventricular tachycardia: An exciting new era

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