Variable presentation of Brugada syndrome: lessons from three generations with syncope

Plunkett, Adrian; Hulse, J A; Mishra, Bhanu; Gill, John B.

doi:10.1136/bmj.326.7398.1078

Cited by 11 publications

(4 citation statements)

References 8 publications

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“…1). The coved-type morphology is required for the diagnosis [25], while the saddle-back type is an intermediate form that requires confirmation using pharmacological challenge (conversion into coved-type) or genetic analysis [26]. Pharmacological challenge utilizes class IA-IC I Na blockers (except quinidine), but not class IB [27 -30].…”

Section: Diagnosis and St Segmentsmentioning

confidence: 99%

Pathophysiological mechanisms of Brugada syndrome: Depolarization disorder, repolarization disorder, or more?

Meregalli¹,

Wilde²,

Tan³

2005

Cardiovascular Research

336

266

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After its recognition as a distinct clinical entity, Brugada syndrome is increasingly recognized worldwide as an important cause of sudden cardiac death. Brugada syndrome exhibits autosomal dominant inheritance with SCN5A, which encodes the cardiac sodium channel, as the only gene with a proven involvement in 20-30% of patients. Its signature feature is ST segment elevation in right precordial ECG leads and predisposition to malignant ventricular tachyarrhythmias. The pathophysiological mechanism of ST elevation and ventricular tachyarrhythmia, two phenomena strongly related, is controversial. Here, we review clinical and experimental studies as they provide evidence to support or disprove the two hypotheses on the mechanism of Brugada syndrome that currently receive the widest support: (1) nonuniform abbreviation of right ventricular epicardial action potentials ("repolarization disorder"), (2) conduction delay in the right ventricular outflow tract ("depolarization disorder"). We also propose a schematic representation of the depolarization disorder hypothesis. Moreover, we review recent evidence to suggest that other derangements may also contribute to the pathophysiology of Brugada syndrome, in particular, right ventricular structural derangements. In reviewing these studies, we conclude that, similar to most diseases, it is likely that Brugada syndrome is not fully explained by one single mechanism. Rather than adhering to the notion that Brugada syndrome is a monofactorial disease, we should aim for clarification of the contribution of various pathophysiological mechanisms in individual Brugada syndrome patients and tailor therapy considering each of these mechanisms.

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Section: Diagnosis and St Segmentsmentioning

confidence: 99%

Pathophysiological mechanisms of Brugada syndrome: Depolarization disorder, repolarization disorder, or more?

Meregalli¹,

Wilde²,

Tan³

2005

Cardiovascular Research

336

266

View full text Add to dashboard Cite

show abstract

“…It has been reported that a diagnosis of LQTS may be delayed for up to 23 years [24]. MRI in patients with a history of epilepsy may be negative [26], and likewise a patient with Brugada syndrome or LQTS may have an unremarkable resting ECG and only show positive changes with physical exertion or a pharmacological challenge [25]. This inevitably can cause difficulties in determining whether a sudden death was related to epilepsy or a cardiac arrhythmia.…”

Section: Discussionmentioning

confidence: 98%

“…Misdiagnosis of epilepsy may result in a person being treated for years before a relative is diagnosed with a cardiac arrhythmia and their own diagnosis is clarified [25]. It has been reported that a diagnosis of LQTS may be delayed for up to 23 years [24].…”

Section: Discussionmentioning

confidence: 99%

Sudden unexpected death, epilepsy and familial cardiac pathology

Eastaugh

Thompson

Vohra

et al. 2015

Journal of Clinical Neuroscience

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“…Blocks involving the right bundle branch are not always synonymous with pathophysiological changes, although two types of RBBB (Brugada and Kearns-Sayre syndromes) are associated with sudden death (Plunkett et al, 2003). In complete RBBB no conduction occurs down the right bundle branch, this does not affect the wave of depolarisation of the septum as it depolarises from the left side as usual.…”

Section: Right Bundle Branch Blockmentioning

confidence: 98%