Citations 2
Clinical Management of Brugada Syndrome: Commentary From the Experts
Cutler, Michael J. , Eckhardt, Lee L. , Kaufman, Elizabeth S. , Arbelo, Elena , Behr, Elijah R. , Brugada, Pedro , Crotti, Lia , Asmundis, Carlo de , Horie, Minoru , Huang, David T. , Lubitz, Steven A. , Mackall, Judith A. , Roden, Dan M. , Sacher, Frédéric , Shoemaker, Benjamin, Sy, Raymond W. , Watanabe, Atsuyuki , Wilde, Arthur A.M. , Cerrone, Marina , Crotti, Lia , deAsmundis, Carlo , Gollob, Michael H , Horie, Minoru , Huang, David T , Krahn, Andrew D , London, Barry , Lubitz, Steven A , Mackall, Judith A , Nademanee, Koonlawee , Perez, Marco V , Probst, Vincent , Roden, Dan M. , Sacher, Frederic , Sarquella-Brugada, Georgia , Scheinman, Melvin M , Shimizu, Wataru , Shoemaker, M Benjamin , Sy, Raymond W , Wilde, Arthur A M , Behr, Elijah Raphael , Eckhardt, Lee L , Arbelo, Elena , Cerrone, Marina , Gollob, Michael H. , Krahn, Andrew D. , London, Barry , Nademanee, Koonlawee , Pérez, Marco
Circulation: Arrhythmia and Electrophysiology | December 15, 2023 | Volume: 17 | Issue: 1 | Pages: No page available
Although there is consensus on the management of patients with Brugada Syndrome with high risk for sudden cardiac arrest, asymptomatic or intermediate-risk patients present clinical management challenges. This document explores the management opinions of experts throughout the world for patients with Brugada Syndrome who do not fit guideline recommendations. Four real-world clinical scenarios were presented with commentary from small expert groups for each case. All authors voted on case-specific questions to evaluate the level of consensus among the entire group in nuanced diagnostic and management decisions relevant to each case. Points of agreement, points of controversy, and gaps in knowledge are highlighted.
From gene-discovery to gene-tailored clinical management: 25 years of research in channelopathies and cardiomyopathies
Crotti, Lia , Brugada, Pedro , Calkins, Hugh , Chevalier, Philippe , Conte, Giulio , Finocchiaro, Gherardo , Postema, Pieter G. , Probst, Vincent , Schwartz, Peter J. , Behr, Elijah R. , Schwartz, Peter J. , Crotti, Lia , Behr, Elijah Raphael , Probst, Vincent , Conte, Giulio , Postema, Pieter G
Europace | August 25, 2023 | Volume: 25 | Issue: 8 | Pages: No page available
Abstract 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 disease-causing genes. The explosion of genetic studies over a 15-year period led to the discovery of major disease-causing genes in practically all channelopathies and cardiomyopathies, bringing insight into the pathophysiological mechanisms of these conditions. The birth of next generation sequencing allowed a further step forward and other significant genes, as CALM1–3 in channelopathies and FLN C and TTN in cardiomyopathies were identified. Genotype–phenotype studies allowed the implementation of the genetic results in diagnosis, risk stratification, and therapeutic management with a different level of evidence in different arrhythmogenic conditions. The influence of common genetic variants, i.e. SNPs, on disease manifestation was proved in mid-twenties, and in the last 10 years with the advent of genome-wide association studies performed in familial arrhythmogenic diseases, the concept of polygenic risk score has been consolidated. Now, we are at the start of another amazing phase, i.e. the initiation of first gene therapy clinical trials.