2017 AHA/ACC/HRS guideline for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: a report of the American College …

SM Al-Khatib, WG Stevenson, MJ Ackerman… - Journal of the American …, 2018 - jacc.org
The recommendations listed in this clinical practice guideline are, whenever possible,
evidence-based. An initial extensive evidence review, which included literature derived from …

Brugada syndrome

AD Krahn, ER Behr, R Hamilton, V Probst… - Clinical …, 2022 - jacc.org
Brugada syndrome (BrS) is an “inherited” condition characterized by predisposition to
syncope and cardiac arrest, predominantly during sleep. The prevalence is∼ 1: 2,000, and …

An international, multicentered, evidence-based reappraisal of genes reported to cause congenital long QT syndrome

A Adler, V Novelli, AS Amin, E Abiusi, M Care… - Circulation, 2020 - Am Heart Assoc
Background: Long QT syndrome (LQTS) is the first described and most common inherited
arrhythmia. Over the last 25 years, multiple genes have been reported to cause this …

QTc behavior during exercise and genetic testing for the long-QT syndrome

PJ Schwartz, L Crotti - Circulation, 2011 - Am Heart Assoc
Since the early days, 2 diagnosis of the long-QT syndrome (LQTS) has undergone several
levels of progressive upgrade. Initially, the diagnosis was made only in the presence of …

Importance of genetic testing in unexplained cardiac arrest

S Grondin, B Davies, J Cadrin-Tourigny… - European Heart …, 2022 - academic.oup.com
Aims Genetic testing is recommended in specific inherited heart diseases but its role
remains unclear and it is not currently recommended in unexplained cardiac arrest (UCA) …

Role of the Wnt‐Frizzled system in cardiac pathophysiology: a rapidly developing, poorly understood area with enormous potential

K Dawson, M Aflaki, S Nattel - The Journal of physiology, 2013 - Wiley Online Library
Abstract The Wnt‐Frizzled (Fzd) G‐protein‐coupled receptor system, involving 19 distinct
Wnt ligands and 10 Fzd receptors, plays key roles in the development and functioning of …

Spectrum and prevalence of mutations involving BrS1-through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic …

L Crotti, CA Marcou, DJ Tester, S Castelletti… - Journal of the American …, 2012 - jacc.org
Objectives: The aim of this study was to provide the spectrum and prevalence of mutations in
the 12 Brugada syndrome (BrS)–susceptibility genes discovered to date in a single large …

The genetics of Brugada syndrome

M Cerrone, S Costa, M Delmar - Annual review of genomics and …, 2022 - annualreviews.org
Brugada syndrome is a heritable channelopathy characterized by a peculiar
electrocardiogram (ECG) pattern and increased risk of cardiac arrhythmias and sudden …

Genetics and genotype–phenotype correlations in Finnish patients with dilated cardiomyopathy

O Akinrinade, L Ollila, S Vattulainen… - European heart …, 2015 - academic.oup.com
Aims Despite our increased understanding of the genetic basis of dilated cardiomyopathy
(DCM), the clinical utility and yield of clinically meaningful findings of comprehensive next …

Attitudes and practices among internists concerning genetic testing

R Klitzman, W Chung, K Marder… - Journal of genetic …, 2013 - Springer
Many questions remain concerning whether, when, and how physicians order genetic tests,
and what factors are involved in their decisions. We surveyed 220 internists from two …