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 …

Guidelines for autopsy investigation of sudden cardiac death: 2017 update from the Association for European Cardiovascular Pathology

C Basso, B Aguilera, J Banner, S Cohle, G d'Amati… - Virchows Archiv, 2017 - Springer
Although sudden cardiac death (SCD) is one of the most important modes of death in
Western countries, pathologists and public health physicians have not given this problem …

Update on Brugada syndrome 2019

G Coppola, E Corrado, A Curnis, G Maglia… - Current problems in …, 2021 - Elsevier
Brugada syndrome (BrS) was first described in 1992 as an aberrant pattern of ST segment
elevation in right precordial leads with a high incidence of sudden cardiac death (SCD) in …

Inherited arrhythmias in the pediatric population: an updated overview

MV Mariani, N Pierucci, F Fanisio, D Laviola, G Silvetti… - Medicina, 2024 - mdpi.com
Pediatric cardiomyopathies (CMs) and electrical diseases constitute a heterogeneous
spectrum of disorders distinguished by structural and electrical abnormalities in the heart …

Genetic testing in Brugada syndrome: a 30-year experience

L Pannone, A Bisignani, R Osei, A Gauthey… - Circulation …, 2024 - Am Heart Assoc
BACKGROUND: A pathogenic/likely pathogenic variant can be found in 20% to 25% of
patients with Brugada syndrome (BrS) and a pathogenic/likely pathogenic variant in SCN5A …

Genetic testing in children with Brugada syndrome: results from a large prospective registry

L Pannone, A Bisignani, R Osei, A Gauthey… - Europace, 2023 - academic.oup.com
Aims A pathogenic/likely pathogenic (P/LP) variant in SCN5A is found in 20–25% of patients
with Brugada syndrome (BrS). However, the diagnostic yield and prognosis of gene panel …

Next generation sequencing applications for cardiovascular disease

S Kalayinia, H Goodarzynejad, M Maleki… - Annals of …, 2018 - Taylor & Francis
Abstract The Human Genome Project (HGP), as the primary sequencing of the human
genome, lasted more than one decade to be completed using the traditional Sanger's …

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 …

Pleiotropic phenotypes associated with PKP2 variants

V Novelli, K Malkani, M Cerrone - Frontiers in Cardiovascular …, 2018 - frontiersin.org
Plakophilin-2 (PKP2) is a component of the desmosome complex and known for its role in
cell-cell adhesion. Recently, alterations in the Pkp2 gene have been associated with …

Molecular autopsy of sudden unexplained deaths reveals genetic predispositions for cardiac diseases among young forensic cases

N Hellenthal, A Gaertner-Rommel, B Klauke… - EP …, 2017 - academic.oup.com
Aims Coronary artery disease accounts for the majority of sudden cardiac deaths (SCD) in
the older population whereas cardiomyopathies and arrhythmogenic abnormalities …