Cited by 15Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesWilliams Syndrome ResearchCongenital Heart Disease Studies

Cardiac abnormalities in girls with Turner syndrome: ECG abnormalities, myocardial strain imaging, and karyotype–phenotype associations

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Noordman, Iris D., Fejzic, Zina, Bos, Melanie, Duijnhouwer, Anthonie L., Weijers, Gert, Kempers, Marlies, Merkx, Remy, van der Velden, Janiëlle A. E. M. +1 more·2021·American Journal of Medical Genetics Part A

Abstract

Turner syndrome (TS) is a chromosomal condition which is associated with an increased prevalence of cardiac morbidity and mortality. In this cross-sectional study, Minnesota-based electrocardiographic (ECG) abnormalities, aortic dimensions, routine- and myocardial strain echocardiographic parameters, and karyotype-cardiac phenotype associations were assessed in girls with TS. In total, 101 girls with TS (0-18 years) were included. The prevalence of major ECG abnormalities was 2% (T-wave abnormalities) and 39% had minor ECG abnormalities. Dilatation of the ascending aorta (z-score > 2) was present in 16%, but the prevalence was much lower when using TS-specific z-scores. No left ventricular hypertrophy was detected and the age-matched global longitudinal strain was reduced in only 6% of the patients. Cardiac abnormalities seemed more common in patients with a non-mosaic 45,X karyotype compared with other karyotypes, although no statistically significant association was found. Lowering the frequency of echocardiography and ECG screening might be considered in girls with TS without cardiovascular malformations and/or risk factors for aortic dissection. Nevertheless, a large prospective study is needed to confirm our results. The appropriate z-score for the assessment of aortic dilatation remains an important knowledge gap. The karyotype was not significantly associated with the presence of cardiac abnormalities, therefore cardiac screening should not depend on karyotype alone.

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Crossref · 10.1002/ajmg.a.62259

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  • These ECG findings are minor in many cases and the clinical implications are not clear.

    “However, these findings are minor in many cases and the clinical implications are not clear.487,490,491”
  • Other ECG abnormalities ("RSR" complexes, right axis deviation, right ventricular hypertrophy, accelerated atrioventricular conduction, and T-wave abnormalities) have also been reported at higher rates compared to the general population.

    “Other ECG abnormalities (“RSR” complexes, right axis deviation, right ventricular hypertrophy, accelerated atrioventricular conduction, and T-wave abnormalities) have also been reported at higher rates compared to the general population.”
  • There is no documented association between QTc prolongation in persons with TS and sudden cardiac death.

    “Importantly, there is no documented association between QTc prolongation in persons with TS and sudden cardiac death.491,493,494”

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Authors
Noordman, I. D., Fejzic, Z., Bos, M., Duijnhouwer, A. L., Weijers, G., Kempers, M., Merkx, R., van der Velden, J. A. E. M., & Kapusta, L.
Affiliations
  • Radboud University Medical Center (NL)
  • Department of Pediatric Endocrinology, Amalia Children's Hospital Radboud University Medical Center Nijmegen The Netherlands
  • Tel Aviv University (IL)
Corresponding author
Noordman, Iris D.
Venue
American Journal of Medical Genetics Part A
Publisher
Wiley
Published
2021-05-10
Volume
185
Issue
8
Pages
2399-2408
ISSN
  • 1552-4825 (ISSN-L)
  • 1552-4833
OpenAlex
W3162121856
Cited by
15
References
65
Citations by year
2025: 5 · 2024: 4 · 2023: 2 · 2022: 2 · 2021: 2
FWCI
1.41
Type
journal article
Language
en
Open access
Locations
  • American Journal of Medical Genetics Part A (publishedVersion, cc-by-nc)
  • PubMed Central (publishedVersion, cc-by-nc)
  • PubMed (publishedVersion)
  • Radboud Repository (Radboud University) (submittedVersion)
  • Radboud Repository (Radboud University) (submittedVersion, other-oa)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
  • Life Sciences › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
  • Health Sciences › Medicine › Epidemiology › Congenital Heart Disease Studies
Keywords
Turner syndrome, cardiac anomalies, electrocardiographic abnormalities, T wave changes, aortic dilatation, ascending aorta, myocardial strain, global longitudinal strain, karyotype, left ventricular hypertrophy, cardiac screening, girls
MeSH terms
Adolescent, Child, Child, Preschool, Echocardiography, Electrocardiography, Female, Heart Defects, Congenital, Humans, Infant, Infant, Newborn, Karyotyping, Phenotype, Turner Syndrome, Genetic Predisposition to Disease, Genetic Association Studies, Karyotype

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