Longitudinal assessment of structural phenotype in Brugada syndrome using cardiac magnetic resonance imaging

Isbister, J.; Gray, Belinda; Offen, S.; Yeates, Laura; Naoum, Chris; Medi, Caroline; Raju, Hariharan; Semsarian, Christopher; Puranik, Rajesh; Sy, Raymond W.

doi:10.1016/j.hroo.2022.10.004

Cited by 6 publications

(5 citation statements)

References 40 publications

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“…As a matter of fact, patients with BrS and a proven mutation in the sodium channel gene SCN5A showed significantly larger RV volumes and RVOT dimensions as well as lower RVEF and lower LV cardiac output than BrS patients without SCN5A mutation and healthy controls. A recent study highlighted that the abnormalities could change and evolve in the follow up [ 36 ]. Genetic background seems to be the main determinant for the extent of the electrophysiological abnormalities [ 37 ].…”

Section: Discussionmentioning

confidence: 99%

Structural Abnormalities in Brugada Syndrome and Non-Invasive Cardiac Imaging: A Systematic Review

Raffele

Domenico

Balla

et al. 2023

Biology

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The aim of this review is to identify possible structural abnormalities of BrS and their potential association with symptoms, risk stratification, and prognosis. (1) Background: BrS has always been considered a purely electrical disease and imaging techniques do not currently play a specific role in the diagnosis of this arrhythmic syndrome. Some authors have recently hypothesized the presence of structural and functional abnormalities. Therefore, several studies investigated the presence of pathological features in echocardiography and cardiac magnetic resonance imaging (MRI) in patients with BrS, but results were controversial. (2) Methods: We performed a systematic review of the literature on the spectrum of features detected by echocardiography and cardiac MRI. Articles were searched in Pubmed, Cochrane Library, and Biomed Central. Only papers published in English and in peer-reviewed journals up to November 2021 were selected. After an initial evaluation, 596 records were screened; the literature search identified 19 relevant articles. (3) Results: The imaging findings associated with BrS were as follows: right ventricular dilation, right ventricular wall motion abnormalities, delayed right ventricular contraction, speckle and feature tracking abnormalities, late gadolinium enhancement, and fat infiltration in the right ventricle. Furthermore, these features emerged more frequently in patients carrying the genetic mutation on the sodium voltage-gated channel α-subunit 5 (SCN5A) gene. (4) Conclusions: Specific imaging features detected by echocardiography and cardiac magnetic resonance are associated with BrS. However, this population appears to be heterogeneous and imaging anomalies emerged to be more frequent in patients carrying genetic mutations of SCN5A. Future studies with an evaluation of BrS patients are needed to identify the specific association linking the Brugada pattern, imaging abnormalities and their possible correlation with prognosis.

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Section: Discussionmentioning

confidence: 99%

Structural Abnormalities in Brugada Syndrome and Non-Invasive Cardiac Imaging: A Systematic Review

Raffele

Domenico

Balla

et al. 2023

Biology

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“…One CMR study showed emergence of focal septal late gadolinium enhancement in 4 patients with BrS during follow-up, suggesting that a progressive evolution of imaging abnormalities occurs in some patients (Figure 2 ). 93 Despite these reports, not all CMR studies have shown such changes. 90 Moreover, there are a lack of data indicating evolving myocardial impairment in patients with BrS.…”

Section: Clinical Overlap With Cardiomyopathymentioning

confidence: 98%

Section: Clinical Overlap With Cardiomyopathymentioning

confidence: 99%

Subepicardial Cardiomyopathy: A Disease Underlying J-Wave Syndromes and Idiopathic Ventricular Fibrillation

et al. 2023

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Brugada syndrome (BrS), early repolarization syndrome (ERS), and idiopathic ventricular fibrillation (iVF) have long been considered primary electrical disorders associated with malignant ventricular arrhythmia and sudden cardiac death. However, recent studies have revealed the presence of subtle microstructural abnormalities of the extracellular matrix in some cases of BrS, ERS, and iVF, particularly within right ventricular subepicardial myocardium. Substrate-based ablation within this region has been shown to ameliorate the electrocardiographic phenotype and to reduce arrhythmia frequency in BrS. Patients with ERS and iVF may also exhibit low-voltage and fractionated electrograms in the ventricular subepicardial myocardium, which can be treated with ablation. A significant proportion of patients with BrS and ERS, as well as some iVF survivors, harbor pathogenic variants in the voltage-gated sodium channel gene, SCN5A , but the majority of genetic susceptibility of these disorders is likely to be polygenic. Here, we postulate that BrS, ERS, and iVF may form part of a spectrum of subtle subepicardial cardiomyopathy. We propose that impaired sodium current, along with genetic and environmental susceptibility, precipitates a reduction in epicardial conduction reserve, facilitating current-to-load mismatch at sites of structural discontinuity, giving rise to electrocardiographic changes and the arrhythmogenic substrate.

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“…As in dilated cardiomyopathies, RVOT dilation reduced RV ejection fraction and RV wall motion impairment, in addition to age-related fibrosclerotic degeneration in the RV myocardium, which can also take place in BrS over decades [ 103 , 111 ]. Recently, a longitudinal cardiac MRI study showed that structural changes may evolve over time, with the development of focal fibrosis in a significant proportion of patients with BrS [ 112 ]. Regardless of their origin, structural abnormalities can induce conduction block and promote re-entrant arrhythmias.…”

Section: Pathophysiological Mechanismsmentioning

confidence: 99%

Brugada Syndrome: More than a Monogenic Channelopathy

Liantonio,

Bertini,

Mele

et al. 2023

Biomedicines

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Brugada syndrome (BrS) is an inherited cardiac channelopathy first diagnosed in 1992 but still considered a challenging disease in terms of diagnosis, arrhythmia risk prediction, pathophysiology and management. Despite about 20% of individuals carrying pathogenic variants in the SCN5A gene, the identification of a polygenic origin for BrS and the potential role of common genetic variants provide the basis for applying polygenic risk scores for individual risk prediction. The pathophysiological mechanisms are still unclear, and the initial thinking of this syndrome as a primary electrical disease is evolving towards a partly structural disease. This review focuses on the main scientific advancements in the identification of biomarkers for diagnosis, risk stratification, pathophysiology and therapy of BrS. A comprehensive model that integrates clinical and genetic factors, comorbidities, age and gender, and perhaps environmental influences may provide the opportunity to enhance patients’ quality of life and improve the therapeutic approach.

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Longitudinal assessment of structural phenotype in Brugada syndrome using cardiac magnetic resonance imaging

Cited by 6 publications

References 40 publications

Structural Abnormalities in Brugada Syndrome and Non-Invasive Cardiac Imaging: A Systematic Review

Structural Abnormalities in Brugada Syndrome and Non-Invasive Cardiac Imaging: A Systematic Review

Subepicardial Cardiomyopathy: A Disease Underlying J-Wave Syndromes and Idiopathic Ventricular Fibrillation

Brugada Syndrome: More than a Monogenic Channelopathy

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