Brugada syndrome: update and future perspectives
EMJ Marsman, PG Postema, CA Remme - Heart, 2022 - heart.bmj.com
Brugada syndrome (BrS) is an inherited cardiac disorder, characterised by a typical ECG
pattern and an increased risk of arrhythmias and sudden cardiac death (SCD). BrS is a …
pattern and an increased risk of arrhythmias and sudden cardiac death (SCD). BrS is a …
Molecular genetic mechanisms of congenital heart disease
TZ Choudhury, V Garg - Current opinion in genetics & development, 2022 - Elsevier
Congenital heart disease (CHD) affects~ 1% of all live births, but a definitive etiology is
identified in only~ 50%. The causes include chromosomal aneuploidies and copy-number …
identified in only~ 50%. The causes include chromosomal aneuploidies and copy-number …
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 …
precordial leads on the electrocardiogram (ECG), and it is associated with an increased risk …
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 …
fibrillation and high risk of sudden death. In 1998, this syndrome was linked with a genetic …
Loss of nuclear envelope integrity and increased oxidant production cause DNA damage in adult hearts deficient in PKP2: a molecular substrate of ARVC
Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is characterized by
high propensity to life-threatening arrhythmias and progressive loss of heart muscle. More …
high propensity to life-threatening arrhythmias and progressive loss of heart muscle. More …
Subcellular diversity of Nav1. 5 in cardiomyocytes: distinct functions, mechanisms and targets
GA Marchal, CA Remme - The Journal of Physiology, 2023 - Wiley Online Library
In cardiomyocytes, the rapid depolarisation of the membrane potential is mediated by the α‐
subunit of the cardiac voltage‐gated Na+ channel (NaV1. 5), encoded by the gene SCN5A …
subunit of the cardiac voltage‐gated Na+ channel (NaV1. 5), encoded by the gene SCN5A …
“Concealed cardiomyopathy” as a cause of previously unexplained sudden cardiac arrest
JC Isbister, N Nowak, A Butters, L Yeates… - International Journal of …, 2021 - Elsevier
Background Genetic heart disease is a common cause of sudden cardiac arrest (SCA) in the
young and those without an ischaemic precipitant. Identifying a cause of SCA in these …
young and those without an ischaemic precipitant. Identifying a cause of SCA in these …
[HTML][HTML] Gene therapy in cardiology: is a cure for hypertrophic cardiomyopathy on the horizon?
ED Paratz, J Mundisugih, SJ Rowe, E Kizana… - Canadian Journal of …, 2023 - Elsevier
Hypertrophic cardiomyopathy (HCM) is the commonest genetic cardiomyopathy world-wide,
affecting approximately 1 in 500 individuals. Current therapeutic interventions comprise …
affecting approximately 1 in 500 individuals. Current therapeutic interventions comprise …
Distinguishing Loss-of-Function and Gain-of-Function SCN8A Variants Using a Random Forest Classification Model Trained on Clinical Features
JB Hack, K Horning, DM Juroske Short… - Neurology …, 2023 - AAN Enterprises
Background and Objectives Pathogenic variants at the voltage-gated sodium channel gene,
SCN8A, are associated with a wide spectrum of clinical disease outcomes. A critical …
SCN8A, are associated with a wide spectrum of clinical disease outcomes. A critical …
Cardiomyopathies and genetic testing in heart failure: role in defining phenotype-targeted approaches and management
H Yogasundaram, W Alhumaid, T Dzwiniel… - Canadian Journal of …, 2021 - Elsevier
Cardiomyopathies represent an important cause of heart failure, often affecting young
individuals, and have important implications for relatives. Genetic testing for …
individuals, and have important implications for relatives. Genetic testing for …