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 …
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 …
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 …
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 …
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 …
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 …
with Brugada syndrome (BrS). However, the diagnostic yield and prognosis of gene panel …
Next generation sequencing applications for cardiovascular disease
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 …
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 …
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 …
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 …
the older population whereas cardiomyopathies and arrhythmogenic abnormalities …