Long QT Syndrome in Adults

Sauer, Andrew J.; Moss, Arthur J.; McNitt, Scott; Peterson, Derick R.; Zaręba, Wojciech; Robinson, Jennifer L.; Qi, Ming; Goldenberg, Ilan; Hobbs, Jenny B.; Ackerman, Michael J.; Benhorin, Jesaia; Hall, William J.; Kaufman, Elizabeth S.; Locati, Emanuela H.; Napolitano, Carlo; Priori, Silvia G.; Schwartz, Peter J.; Towbin, Jeffrey A.; Vincent, G; Zhang, Li

doi:10.1016/j.jacc.2006.08.057

Cited by 361 publications

(266 citation statements)

References 23 publications

(23 reference statements)

Supporting

Mentioning

233

Contrasting

Unclassified

Order By: Relevance

“…At adult age, LQT1 and LQT2 women have longer QT intervals and a higher risk of life-threatening cardiac events than men. 13,14 By contrast, before puberty, the incidence of arrhythmia is higher and occurred at a younger age in boys than in girls, 15 but the numbers of sudden deaths are similar between men and women LQTS patients in most of the studies, as it was in our cohort, where even more females than males died from non-arrythmogenic causes. Over several decades, β-blocker therapy has been used to prevent sudden death in LQTS patients, and intrauterine or infancy deaths due to LQTS remained exceptional.…”

Section: Discussionmentioning

confidence: 47%

Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction

et al. 2015

View full text Add to dashboard Cite

Transmission distortion of disease-causing alleles in long QT syndrome (LQTS) has been reported, suggesting a potential role of KCNQ1 and KCNH2 in reproduction. This study sought to investigate parental transmission in LQTS families according to ethnicity, gene loci (LQT1-3: KCNQ1, KCNH2, and SCN5A) or severity of channel dysfunction. We studied 3782 genotyped members from 679 European and Japanese LQTS families (2748 carriers). We determined grandparental and parental origins of variant alleles in 1903 children and 624 grandchildren, and the grandparental origin of normal alleles in healthy children from 44 three-generation control families. LQTS alleles were more of maternal than paternal origin (61 vs 39%, Po0.001). The ratio of maternally transmitted alleles in LQT1 (66%) was higher than in LQT2 (56%, Po0.001) and LQT3 (57%, P = 0.03). Unlike the Mendelian distribution of grandparental alleles seen in control families, variant grandparental LQT1 and LQT2 alleles in grandchildren showed an excess of maternally transmitted grandmother alleles. For LQT1, maternal transmission differs according to the variant level of dysfunction with 68% of maternal transmission for dominant negative or unknown functional consequence variants vs 58% for non-dominant negative and variants leading to haploinsufficiency, Po0.01; however, for LQT2 or LQT3 this association was not significant. An excess of disease-causing alleles of maternal origin, most pronounced in LQT1, was consistently found across ethnic groups. This observation does not seem to be linked to an imbalance in transmission of the LQTS subtype-specific grandparental allele, but to the potential degree of potassium channel dysfunction.

show abstract

Section: Discussionmentioning

confidence: 47%

Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction

et al. 2015

View full text Add to dashboard Cite

show abstract

“…24,29,30 Data from the International Long QT Syndrome Registry indicate that among 1,496 enrolled subjects, the hazard ratio for cardiac events (arrhythmic syncope or probably long QT related death) is 1.052 x , where x is the per 10 msec unit increase in QTc. 24 A subject with a QTc of 450 msec therefore would have a 1.29-fold greater risk of a cardiac event than a subject with a QTc of 400 msec (1.052 5 ¼ 1.29).…”

Section: Discussionmentioning

confidence: 99%

Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death

Gronli

Santucci

Leurgans

et al. 2007

Pediatric Pulmonology

105

View full text Add to dashboard Cite

Summary. Objective: Children with Congenital Central Hypoventilation Syndrome (CCHS) have cardiovascular symptoms consistent with the autonomic nervous system dysregulation/ dysfunction (ANSD) phenotype. We hypothesized that children with CCHS would have a relationship between PHOX2B genotype and two clinically applicable cardiovascular measures of ANSD: duration of longest r-r interval and longest corrected QT interval (QTc). Materials and Methods: We studied 501 days of Holter recordings from 39 individuals with PHOX2B mutationconfirmed CCHS, and analyzed longest r-r and QTc intervals with respect to PHOX2B genotype. Results: We determined that longest r-r interval varied by genotype (P ¼ 0.001), with a positive correlation between repeat number and longest r-r interval duration (P ¼ 0.0007). Number of children with a longest r-r interval value !3 sec varied by genotype (P < 0.0001): 0% with the 20/25 genotype, 19% with the 20/26 genotype, and 83% with the 20/27 genotype. Though longest QTc interval did not vary by genotype (P ¼ 0.09), all children with CCHS had at least one Holter with a QTc interval >450 msec, and percent of time with QTc >450 msec exceeded published values. The proportion of subjects who received a cardiac pacemaker due to prolonged r-r interval was greater for the children with the 20/27 genotype (67%) than the 20/25 (0%) or 20/26 genotype (25%) (P ¼ 0.01). Among three children who did not receive a cardiac pacemaker, but who had r-r intervals !3 sec, two died suddenly. Conclusions: These results confirm a disturbance of cardiac autonomic regulation in CCHS, indicate that PHOX2B genotype is related to the severity of dysregulation, predict the need for cardiac pacemaker, and offer the clinician the potential to avert sudden death.

show abstract

“…One of the risk factors associated with sudden cardiac arrest in those with LQTS is a more prolonged QTc interval [55]. Those at greatest risk for SCD include individuals with a QTc interval >550msec [56]. Studies have shown that among 18 year olds with a QTc >550msec, 20% will experience SCA by age 40 [56].…”

Section: Non-structural Arrhythmia Related Causes Of Pediatric Suddementioning

confidence: 99%

Cardiac Arrest and Sudden Cardiac Death in the Pediatric Population

Baker‐Smith¹,

Vashist²

2012

J Clin Exp Cardiolog

View full text Add to dashboard Cite

Sudden cardiac arrest in children is a rare event. However, sudden cardiac arrest of a child is a devastating event. Clinicians should be aware of conditions associated with sudden cardiac arrest in the pediatric population. This article reviews the most common causes of sudden cardiac arrest in the pediatric population. We review recommendations for screening and diagnosis. We also briefly discuss current management recommendations for the various causes of sudden cardiac arrest in the pediatric population.

show abstract

Long QT Syndrome in Adults

Cited by 361 publications

References 23 publications

Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction

Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction

Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death

Cardiac Arrest and Sudden Cardiac Death in the Pediatric Population

Contact Info

Product

Resources

About