Brugada syndrome genetics is associated with phenotype severity

G Ciconte, MM Monasky, V Santinelli… - European heart …, 2021 - academic.oup.com
Abstract Aims Brugada syndrome (BrS) is associated with an increased risk of sudden
cardiac death due to ventricular tachycardia/fibrillation (VT/VF) in young, otherwise healthy …

Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome

S Le Scouarnec, M Karakachoff… - Human molecular …, 2015 - academic.oup.com
Abstract The Brugada syndrome (BrS) is a rare heritable cardiac arrhythmia disorder
associated with ventricular fibrillation and sudden cardiac death. Mutations in the SCN5A …

[HTML][HTML] The Brugada syndrome: a rare arrhythmia disorder with complex inheritance

JB Gourraud, J Barc, A Thollet… - Frontiers in …, 2016 - frontiersin.org
For the last 10 years, applying new sequencing technologies to thousands of whole exomes
has revealed the high variability of the human genome. Extreme caution should thus be …

[HTML][HTML] Genetics can contribute to the prognosis of Brugada syndrome: a pilot model for risk stratification

E Sommariva, C Pappone… - European Journal of …, 2013 - nature.com
Brugada syndrome is an inherited arrhythmogenic disorder leading to sudden death
predominantly in the 3–4 decade. To date the only reliable treatment is the implantation of a …

Genotype-Phenotype Correlation of SCN5A Mutation for the Clinical and Electrocardiographic Characteristics of Probands With Brugada Syndrome: A Japanese …

K Yamagata, M Horie, T Aiba, S Ogawa, Y Aizawa… - Circulation, 2017 - Am Heart Assoc
Background: The genotype-phenotype correlation of SCN5A mutations as a predictor of
cardiac events in Brugada syndrome remains controversial. We aimed to establish a registry …

Genetic interpretation and clinical translation of minor genes related to Brugada syndrome

O Campuzano, G Sarquella‐Brugada… - Human …, 2019 - Wiley Online Library
Brugada syndrome (BrS) is an inherited arrhythmogenic disease associated with sudden
cardiac death. The main gene is SCN5A. Additional variants in 42 other genes have been …

Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non–SCN5A-related patients

JPP Smits, L Eckardt, V Probst, CR Bezzina… - Journal of the American …, 2002 - jacc.org
Objectives: We have tested whether a genotype-phenotype relationship exists in Brugada
syndrome (BS) by trying to distinguish BS patients with (carriers) and those without (non …

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

CR Bezzina, J Barc, Y Mizusawa, CA Remme… - Nature …, 2013 - nature.com
Brugada syndrome is a rare cardiac arrhythmia disorder, causally related to SCN5A
mutations in around 20% of cases,,. Through a genome-wide association study of 312 …

[HTML][HTML] Update on genetic basis of Brugada syndrome: monogenic, polygenic or oligogenic?

O Campuzano, G Sarquella-Brugada, S Cesar… - International Journal of …, 2020 - mdpi.com
Brugada syndrome is a rare inherited arrhythmogenic disease leading to ventricular
fibrillation and high risk of sudden death. In 1998, this syndrome was linked with a genetic …

[HTML][HTML] Brugada syndrome: clinical and genetic findings

G Sarquella-Brugada, O Campuzano, E Arbelo… - Genetics in …, 2016 - nature.com
Brugada syndrome is a rare, inherited cardiac disease leading to ventricular fibrillation and
sudden cardiac death in structurally normal hearts. Clinical diagnosis requires a Brugada …