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 …

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 …

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 …

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 …

Loss of nuclear envelope integrity and increased oxidant production cause DNA damage in adult hearts deficient in PKP2: a molecular substrate of ARVC

M Pérez-Hernández, CJM van Opbergen, N Bagwan… - Circulation, 2022 - Am Heart Assoc
Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is characterized by
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 …

“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 …

[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 …

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 …

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 …