[PDF][PDF] From gene-discovery to gene-tailored clinical management: 25 years of research in channelopathies and cardiomyopathies

L Crotti, P Brugada, H Calkins, P Chevalier, G Conte… - Europace, 2023 - academic.oup.com
In the early nineties, few years before the birth of Europace, the clinical and scientific world
of familial arrhythmogenic conditions was revolutionized by the identification of the first …

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 …

Genetics of infertility: a paradigm shift for medically assisted reproduction

W Verpoest, Ö Okutman, A Van Der Kelen… - Human …, 2023 - academic.oup.com
The field of reproductive genetics has undergone significant advancements with the
completion of the Human Genome Project and the development of high-throughput …

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 …

Identification of Brugada syndrome based on P-wave features: an artificial intelligence-based approach

B Zanchi, FD Faraci, A Gharaviri, M Bergonti… - Europace, 2023 - academic.oup.com
Abstract Aims Brugada syndrome (BrS) is an inherited disease associated with an increased
risk of ventricular arrhythmias. Recent studies have reported the presence of an altered atrial …

SCN5A gene variants and arrhythmic risk in Brugada syndrome: An updated systematic review and meta-analysis

I Doundoulakis, L Pannone, S Chiotis, DG Della Rocca… - Heart rhythm, 2024 - Elsevier
Background A rare gene variant in SCN5A can be found in approximately 20-25% of
patients with Brugada syndrome (BrS). Objective The aim of this systematic review and meta …

Patient-reported outcome measures on mental health and psychosocial factors in patients with Brugada syndrome

S Six, P Theuns, P Libin, A Nowé, L Pannone… - Europace, 2023 - academic.oup.com
Abstract Aims Brugada syndrome (BrS) is a hereditary arrhythmic disease, associated with
sudden cardiac death. To date, little is known about the psychosocial correlates and impacts …

Autopsy of all young sudden death cases is important to increase survival in family members left behind

TH Lynge, CM Albert, C Basso, R Garcia… - EP …, 2024 - academic.oup.com
Sudden cardiac death (SCD) is an important public health problem worldwide, accounting
for an estimated 6–20% of total mortality. A significant proportion of SCD is caused by …

[HTML][HTML] Brugada Syndrome: Focus for the General Pediatrician

A Speranzon, D Chicco, P Bonazza, R D'Alfonso… - Children, 2024 - mdpi.com
Brugada Syndrome is an “inherited” channelopathy characterized by a predisposition to
syncope and sudden death. It typically presents in young adults but is also known to affect …