Brugada syndrome: from molecular mechanisms and genetics to risk stratification

IP Popa, DN Șerban, MA Mărănducă… - International Journal of …, 2023 - mdpi.com
Brugada syndrome (BrS) is a rare hereditary arrhythmia disorder, with a distinctive ECG
pattern, correlated with an increased risk of ventricular arrhythmias and sudden cardiac …

Brugada syndrome: oligogenic or mendelian disease?

MM Monasky, E Micaglio, G Ciconte… - International Journal of …, 2020 - mdpi.com
Brugada syndrome (BrS) is diagnosed by a coved-type ST-segment elevation in the right
precordial leads on the electrocardiogram (ECG), and it is associated with an increased risk …

Patient-specific iPSC-derived cardiomyocytes reveal variable phenotypic severity of Brugada syndrome

Y Sun, J Su, X Wang, J Wang, F Guo, H Qiu, H Fan… - …, 2023 - thelancet.com
Summary Background Brugada syndrome (BrS) is a cardiac channelopathy that can result in
sudden cardiac death (SCD). SCN5A is the most frequent gene linked to BrS, but the …

Electrical and structural insights into right ventricular outflow tract arrhythmogenesis

YY Lu, YC Chen, YK Lin, SA Chen… - International journal of …, 2023 - mdpi.com
The right ventricular outflow tract (RVOT) is the major origin of ventricular arrhythmias,
including premature ventricular contractions, idiopathic ventricular arrhythmias, Brugada …

Brugada syndrome: warning of a systemic condition?

S D'Imperio, MM Monasky, E Micaglio… - Frontiers in …, 2021 - frontiersin.org
Brugada syndrome (BrS) is a hereditary disorder, characterized by a specific
electrocardiogram pattern and highly related to an increased risk of sudden cardiac death …

Evaluating the use of genetics in brugada syndrome risk stratification

MM Monasky, E Micaglio, ET Locati… - Frontiers in …, 2021 - frontiersin.org
The evolution of the current dogma surrounding Brugada syndrome (BrS) has led to a
significant debate about the real usefulness of genetic testing in this syndrome. Since BrS is …

The omics of channelopathies and cardiomyopathies: what we know and how they are useful

C Pappone, E Micaglio, ET Locati… - European Heart …, 2020 - academic.oup.com
Sudden cardiac death results from arrhythmias commonly caused by channelopathies and
cardiomyopathies, often due to several genetic factors. An emerging concept is that these …

The role of calcium homeostasis remodeling in inherited cardiac arrhythmia syndromes

S Hamilton, R Veress, A Belevych… - Pflügers Archiv-European …, 2021 - Springer
Sudden cardiac death due to malignant ventricular arrhythmias remains the major cause of
mortality in the postindustrial world. Defective intracellular Ca 2+ homeostasis has been well …

Searching for genetic modulators of the phenotypic heterogeneity in Brugada syndrome

L Martínez-Campelo, R Cruz, A Blanco-Verea… - Plos one, 2022 - journals.plos.org
In Brugada syndrome, even within the same family where all affected individuals share the
same mutation, phenotypic variation is prominent, with variable penetrance and expressivity …

The mechanism of ajmaline and thus brugada syndrome: not only the sodium channel!

MM Monasky, E Micaglio, S D'Imperio… - Frontiers in …, 2021 - frontiersin.org
Ajmaline is an anti-arrhythmic drug that is used to unmask the type-1 Brugada syndrome
(BrS) electrocardiogram pattern to diagnose the syndrome. Thus, the disease is defined at …