Implantable cardioverter-defibrillator harm in young patients with inherited arrhythmia syndromes: a systematic review and meta-analysis of inappropriate shocks and …

LRAO Nordkamp, PG Postema, RE Knops, N van Dijk… - Heart Rhythm, 2016 - Elsevier
Background Implantable cardioverter-defibrillators (ICDs) are implanted with the intention to
prolong life in selected patients with inherited arrhythmia syndromes, but ICD implantation is …

Clinical application of next-generation sequencing for Mendelian diseases

SS Jamuar, EC Tan - Human genomics, 2015 - Springer
Over the past decade, next-generation sequencing (NGS) has led to an exponential
increase in our understanding of the genetic basis of Mendelian diseases. NGS allows for …

Factors influencing uptake of familial long QT syndrome genetic testing

C Burns, J McGaughran, A Davis… - American journal of …, 2016 - Wiley Online Library
Ongoing challenges of clinical assessment of long QT syndrome (LQTS) highlight the
importance of genetic testing in the diagnosis of asymptomatic at‐risk family members …

Long-term proarrhythmic pharmacotherapy among patients with congenital long QT syndrome and risk of arrhythmia and mortality

PE Weeke, JS Kellemann, CB Jespersen… - European Heart …, 2019 - academic.oup.com
Abstract Aims It is Class I recommendation that congenital long QT syndrome (cLQTS)
patients should avoid drugs that can cause torsades de pointes (TdP). We determined use of …

Genetic testing and cascade screening in pediatric long QT syndrome and hypertrophic cardiomyopathy

LM Knight, E Miller, J Kovach, P Arscott… - Heart Rhythm, 2020 - Elsevier
Background The efficacy of cascade screening for the inherited heart conditions long QT
syndrome (LQTS) and hypertrophic cardiomyopathy (HCM) is incompletely characterized …

Perceived self-efficacy and empowerment in patients at increased risk of sudden cardiac arrest

B Davies, KS Allan, SL Carroll, K Gibbs… - Frontiers in …, 2023 - frontiersin.org
Background The role of multidisciplinary clinics for psychosocial care is increasingly
recognized for those living with inherited cardiac conditions (ICC). In Canada, access to …

Routine ECG screening in infancy and early childhood should not be performed

JR Skinner, GF Van Hare - Heart Rhythm, 2014 - Elsevier
For all of us working in the field of inherited heart conditions, our ultimate aim is the
prevention of sudden cardiac death in young people in our communities. We share the …

Must every child with long QT syndrome take a beta blocker?

KE Waddell-Smith, N Earle, JR Skinner - Archives of disease in …, 2015 - adc.bmj.com
Long QT syndrome is the most commonly recognised cause of sudden cardiac death in
children. With a prevalence of 1 in 2000, family screening is identifying large numbers of …

Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2

M Christiansen, PL Hedley, J Theilade, B Stoevring… - BMC medical …, 2014 - Springer
Abstract Background Long QT syndrome (LQTS) is a cardiac ion channelopathy which
presents clinically with palpitations, syncope or sudden death. More than 700 LQTS-causing …

Family relations in the genomic era: communicating about intergenerational transmission of risk for disability

DB Bailey, MA Lewis, M Roche, CM Powell - Family Relations, 2014 - Wiley Online Library
Interest in the familial aspects of disability has heightened in recent years. Three forms of
disability—hearing loss, Fragile X syndrome, and autism spectrum disorders—are used here …