Christian Steinberg1. 1. Quebec Heart and Lung Center, Laval University, 2725, chemin Sainte-Foy, Quebec, QC G1V 4G5, Canada.
Abstract
PURPOSE OF REVIEW: To give an overview over the substantial advances in the diagnosis and management of Long-QT syndrome since its first description 60 years ago. RECENT FINDINGS: LQT syndrome remains the most common inherited arrhythmia and is a leading cause for sudden unexplained death accounting for up to 20-25% of cases. Rapid progress of genetic technology over the past 2 decades has significantly improved our understanding of molecular and genetic mechanisms of LQT. Despite all those novel insights, phenotype assessment and appropriate risk stratification in LQT remains challenging - even for the expert. SUMMARY: This review outlines our current understanding and approach to the clinical diagnosis and management of LQT as well as recent insights into genotype-phenotype correlations. Genetic testing has evolved beyond a pure diagnostic tool and is in addition increasingly integrated as complementary prognostic marker. With regard to the management of LQT, there is now evidence that the protective effect of beta-blockers is rather substance-specific than a class effect. Novel approaches - in conjunction with standard beta-blockers - are emerging including gene-specific treatment for certain subtypes of LQT. A specialized inherited arrhythmia clinic is the preferred resource for the complex risk stratification and individualized management of individuals with LQT.
PURPOSE OF REVIEW: To give an overview over the substantial advances in the diagnosis and management of Long-QT syndrome since its first description 60 years ago. RECENT FINDINGS:LQT syndrome remains the most common inherited arrhythmia and is a leading cause for sudden unexplained death accounting for up to 20-25% of cases. Rapid progress of genetic technology over the past 2 decades has significantly improved our understanding of molecular and genetic mechanisms of LQT. Despite all those novel insights, phenotype assessment and appropriate risk stratification in LQT remains challenging - even for the expert. SUMMARY: This review outlines our current understanding and approach to the clinical diagnosis and management of LQT as well as recent insights into genotype-phenotype correlations. Genetic testing has evolved beyond a pure diagnostic tool and is in addition increasingly integrated as complementary prognostic marker. With regard to the management of LQT, there is now evidence that the protective effect of beta-blockers is rather substance-specific than a class effect. Novel approaches - in conjunction with standard beta-blockers - are emerging including gene-specific treatment for certain subtypes of LQT. A specialized inherited arrhythmia clinic is the preferred resource for the complex risk stratification and individualized management of individuals with LQT.
Authors: Nabil Ghorayeb; Ricardo Stein; Daniel Jogaib Daher; Anderson Donelli da Silveira; Luiz Eduardo Fonteles Ritt; Daniel Fernando Pellegrino Dos Santos; Ana Paula Rennó Sierra; Artur Haddad Herdy; Claúdio Gil Soares de Araújo; Cléa Simone Sabino de Souza Colombo; Daniel Arkader Kopiler; Filipe Ferrari Ribeiro de Lacerda; José Kawazoe Lazzoli; Luciana Diniz Nagem Janot de Matos; Marcelo Bichels Leitão; Ricardo Contesini Francisco; Rodrigo Otávio Bougleux Alô; Sérgio Timerman; Tales de Carvalho; Thiago Ghorayeb Garcia Journal: Arq Bras Cardiol Date: 2019-03 Impact factor: 2.000
Authors: Florian Doldi; Lucas Plagwitz; Lea Philine Hoffmann; Benjamin Rath; Gerrit Frommeyer; Florian Reinke; Patrick Leitz; Antonius Büscher; Fatih Güner; Tobias Brix; Felix Konrad Wegner; Kevin Willy; Yvonne Hanel; Sven Dittmann; Wilhelm Haverkamp; Eric Schulze-Bahr; Julian Varghese; Lars Eckardt Journal: J Pers Med Date: 2022-07-13