Brugada phenocopy associated with diabetic ketoacidosis in two pediatric patients

Alanzalon, Ryan E.; Burris, Jonathan; Vinocur, Jeffrey M.

doi:10.1016/j.jelectrocard.2017.10.017

Cited by 9 publications

(5 citation statements)

References 8 publications

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“…Ion channel dysfunction has been associated with diabetes mellitus (DM), leading to the development of a heart disorder called diabetic cardiomyopathy (179,180), characterized by contractile dysfunction, abnormal cardiac electrical activity, mitochondrial dysfunction, arrhythmia, and sudden cardiac death (159,160). Several patients affected by DM have been reported to exhibit the BrS ECG pattern, whether it was considered "true BrS" or a "BrS phenocopy" (104,(181)(182)(183)(184), although a difference between "true BrS" and "BrS phenocopy" may not actually exist (41). A case report described a 16-yearold boy affected by DM and a mutation in the GPD1L gene who died suddenly during the night (185).…”

Section: Brugada Syndrome and Diabetesmentioning

confidence: 99%

Brugada Syndrome: Warning of a Systemic Condition?

D'Imperio

Monasky

Micaglio

et al. 2021

Front. Cardiovasc. Med.

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Brugada syndrome (BrS) is a hereditary disorder, characterized by a specific electrocardiogram pattern and highly related to an increased risk of sudden cardiac death. BrS has been associated with other cardiac and non-cardiac pathologies, probably because of protein expression shared by the heart and other tissue types. In fact, the most commonly found mutated gene in BrS, SCN5A, is expressed throughout nearly the entire body. Consistent with this, large meals and alcohol consumption can trigger arrhythmic events in patients with BrS, suggesting a role for organs involved in the digestive and metabolic pathways. Ajmaline, a drug used to diagnose BrS, can have side effects on non-cardiac tissues, such as the liver, further supporting the idea of a role for organs involved in the digestive and metabolic pathways in BrS. The BrS electrocardiogram (ECG) sign has been associated with neural, digestive, and metabolic pathways, and potential biomarkers for BrS have been found in the serum or plasma. Here, we review the known associations between BrS and various organ systems, and demonstrate support for the hypothesis that BrS is not only a cardiac disorder, but rather a systemic one that affects virtually the whole body. Any time that the BrS ECG sign is found, it should be considered not a single disease, but rather the final step in any number of pathways that ultimately threaten the patient's life. A multi-omics approach would be appropriate to study this syndrome, including genetics, epigenomics, transcriptomics, proteomics, metabolomics, lipidomics, and glycomics, resulting eventually in a biomarker for BrS and the ability to diagnose this syndrome using a minimally invasive blood test, avoiding the risk associated with ajmaline testing.

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Section: Brugada Syndrome and Diabetesmentioning

confidence: 99%

Brugada Syndrome: Warning of a Systemic Condition?

D'Imperio

Monasky

Micaglio

et al. 2021

Front. Cardiovasc. Med.

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“…Several reports have noted concomitant diabetic ketoacidosis associated Brugada pattern and severe hyperkalemia in adults and paediatric populations [95,96]. Although in some of the patients, the ECGs normalised once the DKA episodes and hyperkalemia resolved, in others, true familial BrS was being unmasked by DKA and hyperkalemia [95]. Hypokalaemia and hyponatremia may accentuate the Brugada ECG pattern by enhancing I to and reducing I Na currents, respectively [85].…”

Section: External Influences That Trigger Brugadamentioning

confidence: 99%

“…Hyperkalemia specifically induces the Brugada pattern by decreasing the resting membrane potential, which in turn inactivates the I Na current and leads to a predominant I to current, especially in the RV epicardium [85,94]. Several reports have noted concomitant diabetic ketoacidosis associated Brugada pattern and severe hyperkalemia in adults and paediatric populations [95,96]. Although in some of the patients, the ECGs normalised once the DKA episodes and hyperkalemia resolved, in others, true familial BrS was being unmasked by DKA and hyperkalemia [95].…”

Section: External Influences That Trigger Brugadamentioning

confidence: 99%

Brugada syndrome

Korlipara¹,

Korlipara

Pentyala³

2020

Acta Cardiologica

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Brugada syndrome (BrS) is an inherited cardiac arrhythmia syndrome that causes a heightened risk for ventricular tachyarrhythmias and sudden cardiac death. BrS is characterised by a coved ST-segment elevation in right precordial leads. The prevalence is estimated to range between 1 in 5,000 to 1 in 2,000 in different populations, with the highest being in Southeast Asia and in males. More than 18 genes associated with BrS have been discovered and recent evidence has suggested a complex polygenic mode of inheritance with multiple common and rare genetic variants acting in concert to produce the BrS phenotype. Diagnosis of BrS in patients currently relies on presentation with a type-1 Brugada pattern on ECG either spontaneously or following a drug provocation test using a sodium channel blocker. Risk assessment in patients diagnosed with BrS is controversial, especially with regard to the predictive value of programmed electrical stimulation and novel ECG parameters, such as QRS fragmentation. The first line of BrS therapy remains an implantable cardioverter defibrillator (ICD), although radiofrequency catheter ablation has been shown to be an effective option in patients with contraindications for an ICD. True BrS can be unmasked on ECG in susceptible individuals by monitoring factors such as fever, and this has been recently evident in several patients infected with the 2019 novel coronavirus (COVID-19). Aggressive antipyretic therapy and regular ECG monitoring until fever resolves are current recommendations to help reduce the arrhythmic risk in these COVID-19 patients. In this review, we summarise the current knowledge on the epidemiology, pathophysiology, genetics, clinical diagnosis, risk stratification and treatment of patients with BrS, with special emphasis on COVID-19 comorbidity.

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Section: Brugada Syndrome and Diabetesmentioning

confidence: 99%

Women in Cardiovascular Genetics and Systems Medicine

2024

Frontiers Research Topics

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Brugada phenocopy associated with diabetic ketoacidosis in two pediatric patients

Cited by 9 publications

References 8 publications

Brugada Syndrome: Warning of a Systemic Condition?

Brugada Syndrome: Warning of a Systemic Condition?

Brugada syndrome

Women in Cardiovascular Genetics and Systems Medicine

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