Congenital heart diseaseAbnormalities of Cardiac Repolarization in Williams Syndrome
Section snippets
Methods
We retrospectively reviewed available charts of all patients with WS evaluated at the Children's Hospital of Philadelphia (Philadelphia, Pennsylvania) from January 1, 1980 through December 31, 2007. Records were reviewed from all patients seen in the Multidisciplinary Williams Syndrome Clinic and those evaluated in the division of cardiology. Diagnosis of WS was confirmed by the clinical phenotype assessed by an experienced medical geneticist and/or by demonstrating elastin hemizygosity by
Results
Baseline demographic and electrocardiographic data for the 1,399 patients in the control group are listed in Table 1. Range of QTc interval for the control group was 356 to 536 ms. Distributions of QTc interval in the control and WS groups are shown in Figure 1. Distribution of QTc interval by quartiles for age in the control group is shown in Figure 2.
Baseline demographic and electrocardiographic data for the 188 WS patients with ECGs available for review are presented in Table 1. There were
Discussion
The increased risk of sudden death in WS5 has been closely linked to the presence of significant supravalvar aortic stenosis and/or peripheral pulmonary artery stenosis (with ventricular hypertrophy and decreased outflow), coronary artery obstruction by stenoses, or occlusion by aortic valve tissue, or a combination of the these lesions.14, 15 To our knowledge, this is the first study to evaluate the presence of prolonged cardiac repolarization in patients with WS. We also provide quartile
Acknowledgment
The authors thank Abdul Salam, MS, for his assistance with statistical analysis of the report; Damaris Amaya, RN, MSN, CPNP, Jamie Ganley, RN, BSN, and Kelly Dillon, RN, BSN, for their assistance with input of normative data; and Alison Buchinsky for her assistance in collection of ECGs.
References (23)
- et al.
Long-term outcomes of patients with cardiovascular abnormalities and the Williams syndrome
Am J Cardiol
(2010) - et al.
Use of the rate-corrected JT interval for prediction of repolarization abnormalities in children
Am J Cardiol
(1994) - et al.
Long QT syndrome
J Am Coll Cardiol
(2008) - et al.
Short-term repeatability of electrocardiographic spatial T-wave axis and QT interval
J Electrocardiol
(2005) - et al.
Sudden death in Williams syndrome: report of ten cases
J Pediatr
(1996) - et al.
Supravalvular aortic stenosis
Circulation
(1961) - et al.
Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance
Circulation
(1962) - et al.
Williams (Williams Beuren) syndrome: a distinct neurobehavioral disorder
J Child Neurol
(2001) - et al.
Three decades of follow-up of aortic and pulmonary vascular lesions in the Williams-Beuren syndrome
Am J Med Genet
(1994) - et al.
Risk of aborted cardiac arrest or sudden cardiac death during adolescence in the long-QT syndrome
JAMA
(2006)
Sudden cardiac death
Circulation
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Arrhythmias in Williams Syndrome
2023, American Journal of CardiologyImportance of Formula-Specific Centile Thresholds for Evaluation of Heart Rate-Corrected QT Prolongation in Williams Syndrome
2022, American Journal of CardiologyCitation Excerpt :After adjustment for heart rate and age, the reanalysis of our large dataset of both patients with WS and normal controls confirmed that QTc/JTc are generally longer in WS compared with normal controls. The prevalence of QTc/JTc prolongation in WS using Bazett or Fridericia correction was very similar to that found in our original study.3 These findings indicate that elevated heart rate does not explain the longer QTc/JTc in WS.
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2020, Progress in Pediatric CardiologyCitation Excerpt :These lead to microvascular dysfunction and decreased myocardial perfusion with progressive myocardial fibrosis, changes in ventricular repolarization on electrocardiogram and increased risk of ventricular ectopy/ventricular tachycardia [23]. QTc prolongation has been noted in 13% of Williams syndrome patients [23–25] In 2012 Collins et al., they reviewed longitudinal electrocardiograms from 26 patients at the Williams clinic at the Children's Hospital of Philadelphia [23]. They found that the QTc interval increased with age, increased with heart rate and severity of severe obstructive lesions [23].
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