The DOI matches its Crossref record; 38 of the 38 references it cites were found in a registry or an index.
Cardiovascular Anomalies in Turner Syndrome: Spectrum, Prevalence, and Cardiac MRI Findings in a Pediatric and Young Adult Population
Abstract
OBJECTIVE: Turner syndrome affects one in 2,500 girls and women and is associated with cardiovascular anomalies. Visualizing the descending thoracic aorta in adults with Turner syndrome with echocardiography is difficult. Therefore, cardiac MRI is the preferred imaging modality for surveillance. Our goals were to use cardiac MRI describe the spectrum and frequency of cardiovascular abnormalities and to evaluate aortic dilatation and associated abnormalities in pediatric patients with Turner syndrome. MATERIALS AND METHODS: The cases of 51 patients with Turner syndrome (median age, 18.4 years; range, 6-36 years) were evaluated with cardiac MRI. The characteristics assessed included aortic structure, elongation of the transverse aortic arch, aortic diameter at multiple locations, and coarctation of the aorta (CoA). Additional evaluations were made for presence of bicuspid aortic valve (BAV), and partial anomalous pulmonary venous return (PAPVR). Associations between the cardiac MRI data and the following factors were assessed: age, karyotype, body surface area, blood pressure, and ventricular sizes and function. RESULTS: Sixteen patients (31.4%) had elongation of the transverse aortic arch, eight (15.7%) had CoA, 20 (39.2%) had BAV, and eight (15.7%) had PAPVR. Aortic dilatation was most common at the aortic sinus (30%). Elongation of the transverse aortic arch was associated with CoA (p < 0.01) and BAV (p < 0.05). Patients with elongation of the transverse aortic arch had dilated aortic sinus (p < 0.05). Patients with PAPVR had increased right heart mass (p < 0.05), increased ratio of main pulmonary artery to aortic valve blood flow (p = 0.0014), and increased right ventricular volume (p < 0.05). CONCLUSION: Cardiovascular anomalies in pediatric patients with Turner syndrome include aortic abnormalities and PAPVR. The significant association between elongation of the transverse aortic arch and CoA, BAV, and aortic sinus dilatation may contribute to increased risk of aortic dissection. The presence of PAPVR can be hemodynamically significant. These findings indicate that periodic cardiac MRI screening of persons with Turner syndrome is beneficial.
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“Depending on the age and the imaging technique used, the prevalence of CHD in TS ranges from 40%-60%, most commonly left-sided obstructive lesions such as BAV and coarctation (Table 11).3,356,385-388”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [388]
In the citing paper
“CHD occurs in approximately half of individuals with TS, including BAV, aortic coarctation, and an arteriopathy that can lead to rare but often fatal aortic dissections.”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [388]
In the citing paper
“Vascular anomalies, including partial anomalous pulmonary venous return, left superior vena cava, elongated transverse arch, and dilation of the brachiocephalic arteries, often remain undetected unless advanced imaging modalities are used.388,395”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [388]
In the citing paper
“CMR is not constrained by anatomic factors and is thus more sensitive for extra-cardiac lesions such as partial anomalous pulmonary venous return.388,395,420”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [388]
In the citing paper
“Non-invasive imaging is an essential part of cardiovascular screening and surveillance across the life span of individuals with TS,233,388,396,418-423 but imaging remains underutilized and not systematically applied.420,424”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [388]
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Metadata
- Authors
- Kim, H. K., Gottliebson, W., Hor, K., Backeljauw, P., Gutmark-Little, I., Salisbury, S. R., Racadio, J. M., Helton-Skally, K., & Fleck, R.
- Affiliations
- Cincinnati Children's Hospital Medical Center (US)
- Division of Pediatric Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
- Venue
- American Journal of Roentgenology
- Publisher
- American Roentgen Ray Society
- Published
- 2011-02
- Volume
- 196
- Issue
- 2
- Pages
- 454-460
- ISSN
- 0002-9580 (ISSN-L)
- 0361-803X
- 1546-3141
- OpenAlex
- W2156222569
- Cited by
- 126
- References
- 38
- Citations by year
- 2026: 1 · 2025: 6 · 2024: 7 · 2023: 6 · 2022: 11 · 2021: 8 · 2020: 10 · 2019: 5 · 2018: 16 · 2017: 9 · 2016: 8 · 2015: 9 · 2014: 9 · 2013: 10 · 2012: 7
- FWCI
- 6.95
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- American Journal of Roentgenology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Congenital Heart Disease Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Aortic Disease and Treatment Approaches
- Keywords
- cardiovascular anomalies, aortic dilatation, coarctation of the aorta, bicuspid aortic valve, partial anomalous pulmonary venous return, aortic dissection risk, pediatric and young adult patients, right ventricular volume
- MeSH terms
- Adolescent, Adult, Child, Electrocardiography, Female, Humans, Hypertension, Image Enhancement, Magnetic Resonance Imaging, Retrospective Studies, Turner Syndrome, Comorbidity, Incidence, Prevalence, Cardiovascular Abnormalities, Magnetic Resonance Angiography, Young Adult
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