Cardiovascular disease

EG Nabel - New England Journal of Medicine, 2003 - Mass Medical Soc
It is well known that cardiovascular diseases have a substantial heritable component, but the
precise genetic variants responsible for this familial tendency have been hard to uncover. In …

The genetic basis of long QT and short QT syndromes: a mutation update

PL Hedley, P Jørgensen, S Schlamowitz… - Human …, 2009 - Wiley Online Library
Long QT and short QT syndromes (LQTS and SQTS) are cardiac repolarization
abnormalities that are characterized by length perturbations of the QT interval as measured …

HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership …

MJ Ackerman, SG Priori, S Willems, C Berul… - Europace, 2011 - academic.oup.com
1From Mayo Clinic, Rochester, Minnesota; 2Fondazione Salvatore Maugeri University of
Pavia, Pavia, Italy and New York University, New York, New York; 3University Hospital …

KCNQ1 gain-of-function mutation in familial atrial fibrillation

YH Chen, SJ Xu, S Bendahhou, XL Wang, Y Wang… - Science, 2003 - science.org
Atrial fibrillation (AF) is a common cardiac arrhythmia whose molecular etiology is poorly
understood. We studied a family with hereditary persistent AF and identified the causative …

JCS/JHRS 2020 guideline on pharmacotherapy of cardiac arrhythmias

K Ono, Y Iwasaki, M Akao, T Ikeda, K Ishii… - Circulation …, 2022 - jstage.jst.go.jp
The Japanese Circulation Society (JCS) published the “Guidelines for Pharmacological
Treatment of Arrhythmia” in 2004, and a revised edition was published in 2009. 1 Both …

Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A)

DW Benson, DW Wang, M Dyment… - The Journal of …, 2003 - Am Soc Clin Investig
Sick sinus syndrome (SSS) describes an arrhythmia phenotype attributed to sinus node
dysfunction and diagnosed by electrocardiographic demonstration of sinus bradycardia or …

Pharmacological and non-pharmacological therapy for arrhythmias in the pediatric population: EHRA and AEPC-Arrhythmia Working Group joint consensus statement

J Brugada, N Blom, G Sarquella-Brugada… - Europace, 2013 - academic.oup.com
In children with structurally normal hearts, the mechanisms of arrhythmias are usually the
same as in the adult patient. Some arrhythmias are particularly associated with young age …

Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans

H Watanabe, TT Koopmann… - The Journal of …, 2008 - Am Soc Clin Investig
Brugada syndrome is a genetic disease associated with sudden cardiac death that is
characterized by ventricular fibrillation and right precordial ST segment elevation on ECG …

Sudden unexpected death in epilepsy: risk factors and potential pathomechanisms

R Surges, RD Thijs, HL Tan, JW Sander - Nature Reviews Neurology, 2009 - nature.com
Sudden unexpected death in epilepsy (SUDEP) is the most common cause of death directly
related to epilepsy, and most frequently occurs in people with chronic epilepsy. The main …

SCN5A Mutation Associated With Dilated Cardiomyopathy, Conduction Disorder, and Arrhythmia

WP McNair, L Ku, MRG Taylor, PR Fain, D Dao… - Circulation, 2004 - Am Heart Assoc
Background—We studied a large family affected by an autosomal dominant cardiac
conduction disorder associated with sinus node dysfunction, arrhythmia, and right and …