[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 …
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 …
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 …
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 …
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
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 …
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 …
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
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 …
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
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 …
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 …
syncope and sudden death. It typically presents in young adults but is also known to affect …