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 …

Genetic testing for potentially lethal, highly treatable inherited cardiomyopathies/channelopathies in clinical practice

DJ Tester, MJ Ackerman - Circulation, 2011 - Am Heart Assoc
The molecular millennium has bestowed researchers with the essential tools to identify the
underlying genetic substrates for thousands of genetic disorders, most of which are rare and …

Calmodulin mutations associated with recurrent cardiac arrest in infants

L Crotti, CN Johnson, E Graf, GM De Ferrari… - Circulation, 2013 - Am Heart Assoc
Background—Life-threatening disorders of heart rhythm may arise during infancy and can
result in the sudden and tragic death of a child. We performed exome sequencing on 2 …

Long QT syndrome–associated mutations in intrauterine fetal death

L Crotti, DJ Tester, WM White, DC Bartos, R Insolia… - Jama, 2013 - jamanetwork.com
Importance Intrauterine fetal death or stillbirth occurs in approximately 1 out of every 160
pregnancies and accounts for 50% of all perinatal deaths. Postmortem evaluation fails to …

[HTML][HTML] The long QT syndrome family of cardiac ion channelopathies: a HuGE review

SM Modell, MH Lehmann - Genetics in Medicine, 2006 - Elsevier
Long QT syndrome (LQTS) refers to a group of “channelopathies”–disorders that affect
cardiac ion channels. The “family” concept of syndromes has been applied to the multiple …

Cardiac channelopathies: genetic and molecular mechanisms

H Abriel, EV Zaklyazminskaya - Gene, 2013 - Elsevier
Channelopathies are diseases caused by dysfunctional ion channels, due to either genetic
or acquired pathological factors. Inherited cardiac arrhythmic syndromes are among the …

Fetal cardiac arrhythmia detection and in utero therapy

JF Strasburger, RT Wakai - Nature reviews cardiology, 2010 - nature.com
The human fetal heart develops arrhythmias and conduction disturbances in response to
ischemia, inflammation, electrolyte disturbances, altered load states, structural defects …

A common cardiac sodium channel variant associated with sudden infant death in African Americans, SCN5A S1103Y

LD Plant, PN Bowers, Q Liu, T Morgan… - The Journal of …, 2006 - Am Soc Clin Investig
Thousands die each year from sudden infant death syndrome (SIDS). Neither the cause nor
basis for varied prevalence in different populations is understood. While 2 cases have been …

Fetal heart rate predictors of long QT syndrome

JL Mitchell, BF Cuneo, SP Etheridge, H Horigome… - Circulation, 2012 - Am Heart Assoc
Background—Fetal long QT syndrome (LQTS) is associated with complex arrhythmias
including torsades de pointes and 2° atrioventricular block. Sinus bradycardia has also been …

Genotype predicts outcomes in fetuses and neonates with severe congenital long QT syndrome

JP Moore, RG Gallotti, KM Shannon, JM Bos… - Clinical …, 2020 - jacc.org
Objectives This study sought to determine the relationship between long QT syndrome
(LQTS) subtype (LTQ1, LTQ2, LTQ3) and postnatal cardiac events (CEs). Background LQTS …