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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
characterized by ventricular fibrillation and right precordial ST segment elevation on ECG …
Sudden unexpected death in epilepsy: risk factors and potential pathomechanisms
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 …
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 …
conduction disorder associated with sinus node dysfunction, arrhythmia, and right and …