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

Noordman, Iris; Fejzic, Zina; Bos, Melanie; Duijnhouwer, Anthonie L.; Weijers, Gert; Kempers, Marlies; Merkx, Remy; Velden, Janiëlle A E M van der; Kapusta, Livia

doi:10.1002/ajmg.a.62259

Cited by 7 publications

(11 citation statements)

References 63 publications

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“…In addition, the time of study conduction and the technological advances substantially influence the echocardiographic sensitivity of BAV in TS. Recent echocardiographic TS studies demonstrated a much higher BAV prevalence between 22% and 39% [43,44]. To overcome the limitation of suboptimal image quality, transesophageal echocardiography (TEE) might be applicable.…”

Section: Transthoracic and Transesophageal Echocardiographymentioning

confidence: 99%

Prevalence of Bicuspid Aortic Valve in Turner Syndrome Patients Receiving Cardiac MRI and CT: A Meta-Analysis

Li¹,

Bačová²,

Dalla‐Pozza³

et al. 2022

Congenital Heart Disease

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Turner syndrome (TS) is a rare disorder affecting 25-50 in 100000 female newborns. Bicuspid aortic valve (BAV) is assumed to be the most common congenital heart defect (CHD) in TS. In literature, reported BAV prevalence in TS ranges between 14% and 34%. The specific BAV prevalence in TS is still unknown. The aim of this study was to give a more precise estimation of BAV prevalence in TS by conducting a meta-analysis of TS-studies, which detected BAV by either cardiac magnetic resonance imaging (MRI) or cardiac computed tomography (CT). We searched PubMed, Cochrane Library, and Web of Science databases to collect observational studies including the prevalence of BAV identified by cardiac MRI or cardiac CT in TS patients up to June 4th, 2021. After screening for inclusion, data extraction, and quality assessment by two independent reviewers, the meta-analysis was performed with R 4.1.1 software. Results are shown as proportion and weighted mean difference with 95% confidence intervals (95% CI). In total, 11 studies involving 1177 patients were included. Pooled data showed that the prevalence of BAV in TS patients was 23.7% (95% CI: 21.3% to 26.1%). No high heterogeneity was found between the included studies. The current meta-analysis reveals that BAV can be detected in 23.7% of TS patients receiving cardiac MRI or cardiac CT. Therefore, BAV can be considered as the most common CHD in TS. Compared to TTE, cardiac MRI and cardiac CT might represent superior imaging modalities in BAV assessment of adult TS patients.

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Section: Transthoracic and Transesophageal Echocardiographymentioning

confidence: 99%

Prevalence of Bicuspid Aortic Valve in Turner Syndrome Patients Receiving Cardiac MRI and CT: A Meta-Analysis

Li¹,

Bačová²,

Dalla‐Pozza³

et al. 2022

Congenital Heart Disease

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“…The prevalence in our cohort study was within the limits reported by other authors (3.4-18.1%). 6,8,16,[23][24][25][26][27][28] In our group, in four of ten patients with coarctation of the aorta the diagnosis of TS was established late, after the age of 5 years, when the patients presented for endocrinological assessment for short stature. The mean age at diagnosis of TS in patients with coarctation of the aorta seemed to be lower compared to the patients with other various heart malformations (3.3 years vs. 6.3 years), although this association was not statistically signifi cant.…”

mentioning

confidence: 69%

“…The incidence of this malformation in TS varies between 6% and 41% in other studies. 6,8,16,[23][24][25][26][27][28] Increased prevalence of bicuspid aortic valve in individuals with monosomy X was demonstrated by other authors. 29,30 In TS the prevalence of bicuspid aortic valve is 30-50 higher than in general population and complete or partial loss of the second sex chromosome is the most likely predisposing factor.…”

mentioning

confidence: 75%

Association between Cardiac Malformations and Karyotype in Turner Syndrome - a Single Centre Study

Lazea

Bucerzan

Alkhzouz

et al. 2021

Romanian Journal of Cardiology

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Turner syndrome is characterized by growth failure, pubertal delay and different skeletal, cardiovascular and renal malformations. In this study we investigated the prevalence of cardiac abnormalities and the correlation with the karyotype in girls with Turner syndrome. Methods. We conducted a retrospective cohort study of 85 girls with TS aged 0-17 years, divided in two groups: monosomy X and other X chromosome abnormalities (mosaicism and structural X chromosome abnormalities). Echocardiography was performed in all patients. Karyotype was determined from peripheral blood lymphocytes using the G-banding technique. Results. Monosomy X was the most frequent karyotype (68.3%). 31% of patients presented different cardiac abnormalities. Bicuspid aortic valve and coarctation of the aorta were the most prevalent heart malformations (16.5% and 11.8% respectively). The girls with monosomy X had a higher prevalence of heart malformations than the girls with other chromosome abnormalities. Bicuspid aortic valve was more frequent in the monosomy X group. Conclusion. Monosomy X is associated with a higher incidence of cardiac abnormalities. There were no differences in cardiovascular abnormalities between various karyotypes except the higher incidence of bicuspid aortic valve observed in patients with monosomy X comparing to those with mosaic karyotype and structural X chromosome aberrations.

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“…Due to the ongoing rapid growth and development of vascular morphology and body size in these patients, the evaluation of AD in children and adolescents needs to be adjusted based on BSA. This raises a pertinent question regarding the reference set: Previous studies have found that when healthy individuals are used as a reference, the incidence of AD by transthoracic echocardiography and magnetic resonance arteriography appears significantly higher than the theoretical value, reaching 30% and 16%, respectively [ 19 , 20 ]. Conversely, when using TS patients without cardiovascular lesions as a reference, the incidence of AD (TSZ-score ≥ 2) was notably much lower (2%) [ 19 ].…”

Section: Discussionmentioning

confidence: 99%

“…This raises a pertinent question regarding the reference set: Previous studies have found that when healthy individuals are used as a reference, the incidence of AD by transthoracic echocardiography and magnetic resonance arteriography appears significantly higher than the theoretical value, reaching 30% and 16%, respectively [ 19 , 20 ]. Conversely, when using TS patients without cardiovascular lesions as a reference, the incidence of AD (TSZ-score ≥ 2) was notably much lower (2%) [ 19 ]. In clinical practice, the evaluation of AD often demands the consideration of multiple parameters, such as ASI, A/D ratio, and TSZ-score.…”

Section: Discussionmentioning

confidence: 99%

Assessment of aortic dilatation in Chinese children and adolescents with Turner syndrome: a single center experience

Su,

Sun,

et al. 2024

BMC Pediatr

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Background Patients with Turner syndrome (TS) face an increased risk of developing aortic dilatation (AD), but diagnosing AD in children presents greater complexity compared to adults. This study aimed to investigate the application of various assessment indicators of AD in Chinese children and adolescents with TS. Methods This study included TS patients admitted to Shenzhen Children’s Hospital from 2017 to 2022. Cardiovascular lesions were diagnosed by experienced radiologists. Patients without structural heart disease were divided into different body surface area groups, then the Chinese TS population Z-score (CHTSZ-score) of the ascending aorta was calculated and compared with other indicators such as aortic size index (ASI), ratio of the ascending to descending aortic diameter (A/D ratio), and TSZ-score (Quezada’s method). Results A total of 115 TS patients were included, with an average age of 10.0 ± 3.7 years. The incidences of the three most serious cardiovascular complications were 9.6% (AD), 10.4% (coarctation of the aorta, CoA), and 7.0% (bicuspid aortic valve, BAV), respectively. The proportion of developing AD in TS patients aged ≥ 10 years was higher than that in those < 10 years old (16.6% vs. 1.8%, P = 0.009), and the proportion of patients with CoA or BAV who additionally exhibited AD was higher than those without these conditions (31.6% vs. 5.2%, P < 0.001). The ASI, A/D ratio, TSZ-score, and CHTSZ-score of the 11 patients with AD were 2.27 ± 0.40 cm/m2, 1.90 ± 0.37, 1.28 ± 1.08, and 3.07 ± 2.20, respectively. Among the AD patients, only 3 cases had a TSZ-score ≥ 2, and 2 cases had a TSZ-score ≥ 1. However, based on the assessment using the CHTSZ-score, 6 patients scored ≥ 2, and 5 patients scored ≥ 1. In contrast, the TSZ-score generally underestimated the aortic Z-scores in Chinese children with TS compared to the CHTSZ-score. Conclusions The applicability of ASI and A/D ratio to children with TS is questionable, and racial differences can affect the assessment of TSZ-score in the Chinese population. Therefore, establishing the CHTSZ-score specifically tailored for Chinese children and adolescents is of paramount importance.

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

Cited by 7 publications

References 63 publications

Prevalence of Bicuspid Aortic Valve in Turner Syndrome Patients Receiving Cardiac MRI and CT: A Meta-Analysis

Prevalence of Bicuspid Aortic Valve in Turner Syndrome Patients Receiving Cardiac MRI and CT: A Meta-Analysis

Association between Cardiac Malformations and Karyotype in Turner Syndrome - a Single Centre Study

Assessment of aortic dilatation in Chinese children and adolescents with Turner syndrome: a single center experience

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