Clinical and echocardiographic prevalence and detection of congenital and acquired cardiac abnormalities in girls and women with the Turner syndrome
Abstract
The prevalence of congenital and acquired heart disease in patients with the Turner syndrome (TS) is based on historic cohorts who underwent imaging before the advent of modern day echocardiography. Recent small studies suggest a higher prevalence of cardiac defects. We reviewed clinical and echocardiographic data on 564 girls and women with TS to assess the prevalence of cardiac defects. Echocardiographic review on a subset of this population was performed to assess for diagnostic limitations of echocardiography in assessing for congenital and acquired defects in this patient cohort. Bicuspid aortic valve was present in 39%, aortic coarctation in 21%, and some forms of structural cardiac anomaly in 56%. Failure to perform a complete congenital echocardiogram with suprasternal and high right or left parasternal windows was associated with failure to identify congenital and acquired cardiac defects. In conclusion, major cardiac defects are present in the majority of patients with TS. Echocardiographic technique can be optimized to avoid missing cardiac lesions of potential hemodynamic significance.
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TTE is valuable for the diagnosis and surveillance of CHD and aortic dilation, but may be limited by poor acoustic windows, especially in older children and adults.
“TTE is valuable for the diagnosis and surveillance of CHD and aortic dilation,426-428 but may be limited by poor acoustic windows, especially in older children and adults.”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [426]
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Gravholt, C. H., Andersen, N. H., Conway, G. S., Dekkers, O. M., Geffner, M. E., Klein, K. O., Lin, A. E., Mauras, N., Quigley, C. A., Rubin, K., et al. (2017) · European Journal of Endocrinology · doi:10.1530/eje-17-0430 · Cited by 1,101 · see citing works
Two-dimensional echocardiographic aortic root dimensions in normal children and adults
Roman, M. J., Devereux, R. B., Kramer-Fox, R., & OʼLoughlin, J. E. (1989) · The American Journal of Cardiology · doi:10.1016/0002-9149(89)90430-x · Cited by 1,096 · see citing works
Care of girls and women with Turner syndrome: a guideline of the Turner syndrome study group
Bondy, C. A. (2007) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2006-1374 · Cited by 1,005 · see citing works
Mortality in women with Turner syndrome in Great Britain: a national cohort study
Schoemaker, M. J., Swerdlow, A. J., Higgins, C. D., Wright, A. F., & Jacobs, P. A. (2008) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2008-1049 · Cited by 360 · see citing works
Lopez, L., Colan, S. D., Stylianou, M. P., Granger, S., Trachtenberg, F. L., Frommelt, P. C., Pearson, G. D., Camarda, J. A., Cnota, J. F., Cohen, M. S., et al. (2017) · Circulation Cardiovascular Imaging · doi:10.1161/circimaging.117.006979 · Cited by 333 · see citing works
Cardiovascular Malformations and Complications in Turner Syndrome
Sybert, V. P. (1998) · PEDIATRICS · doi:10.1542/peds.101.1.e11 · Cited by 326 · see citing works
Prevalence of cardiovascular malformations and association with karyotypes in Turner's syndrome
Gotzsche, C. O., Krag-Olsen, B., Nielsen, J., Sorensen, K. E., & Kristensen, B. O. (1994) · Archives of Disease in Childhood · doi:10.1136/adc.71.5.433 · Cited by 260 · see citing works
Cardiovascular Phenotype in Turner Syndrome—Integrating Cardiology, Genetics, and Endocrinology
Mortensen, K. H., Andersen, N. H., & Gravholt, C. H. (2012) · Endocrine Reviews · doi:10.1210/er.2011-1059 · Cited by 217 · see citing works
Association between fetal lymphedema and congenital cardiovascular defects in Turner syndrome
Loscalzo, M. L. (2005) · PEDIATRICS · doi:10.1542/peds.2004-1369 · Cited by 120 · see citing works
Turner Syndrome Is an Independent Risk Factor for Aortic Dilation in the Young
Lopez, L., Arheart, K. L., Colan, S. D., Strickman-Stein, N., Lopez‐Mitnik, G., Lin, A. E., Reller, M. D., Ventura, R., & Silberbach, M. (2008) · PEDIATRICS · doi:10.1542/peds.2007-2807 · Cited by 119 · see citing works
Cramer, J. W., Bartz, P. J., Simpson, P. M., & Zangwill, S. D. (2013) · Pediatric Cardiology · doi:10.1007/s00246-013-0766-5 · Cited by 62 · see citing works
Self-citationAortic distensibility and dilation in Turner’s syndrome
Sharma, J., FRIEDMAN, D. M., Dave-Sharma, S., & Harbison, M. D. (2009) · Cardiology in the Young · doi:10.1017/s1047951109990874 · Cited by 31 · see citing works
Bondy, C. A. (2007) · Cited by 18 · see citing works
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Clinical practice guidelines for the care of girls and women with Turner syndrome.
Gravholt, C. H., Andersen, N. H., Christin-Maitre, S., Davis, S. M., Duijnhouwer, A., Gawlik, A., Maciel-Guerra, A. T., Gutmark-Little, I., Fleischer, K., Hong, D., et al. (2024) · European Journal of Endocrinology · doi:10.1093/ejendo/lvae050 · Cited by 224 · see citing works
Fiot, E., Zénaty, D., Boizeau, P., Haignere, J., Dos Santos, S., Léger, J., _, _., _, _., Carel, J. C., Cabrol, S., et al. (2019) · European Journal of Endocrinology · doi:10.1530/eje-18-0878 · Cited by 48 · see citing works
The QT interval in patients with the Turner syndrome
Harrahill, N. J., Yetman, A. T., Danford, D. A., Starr, L. J., Sanmann, J. N., & Robinson, J. A. (2021) · The American Journal of Cardiology · doi:10.1016/j.amjcard.2020.09.061 · Cited by 10 · see citing works
Self-citationNon-invasive assessment of aortic stiffness and blood pressure in young Turner syndrome patients
Fox, D. A., Kang, K. T., Potts, J. E., Bradley, T. J., Stewart, L. L., Dionne, J. M., & Sandor, G. G. S. (2019) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2018-0346 · Cited by 9 · see citing works
- Authors
- Yetman, A. T., Starr, L., Sanmann, J., Wilde, M., Murray, M., & Cramer, J. W.
- Affiliations
- Nebraska Medical Center (US)
- University of Michigan (US)
- University of Utah (US)
- Corresponding author
- Yetman, Anji T.
- Venue
- The American Journal of Cardiology
- Publisher
- Elsevier BV
- Published
- 2018-07
- Volume
- 122
- Issue
- 2
- Pages
- 327-330
- ISSN
- 0002-9149 (ISSN-L)
- OpenAlex
- W2799849175
- Cited by
- 24
- References
- 13
- Citations by year
- 2024: 4 · 2023: 1 · 2022: 7 · 2021: 1 · 2020: 7 · 2019: 4
- FWCI
- 2.35
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The American Journal of Cardiology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Epidemiology › 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 › Cardiac Valve Diseases and Treatments
- Keywords
- Turner syndrome, congenital heart disease, acquired heart disease, bicuspid aortic valve, coarctation of the aorta, women and girls
- MeSH terms
- Abnormalities, Multiple, Adolescent, Adult, Age Factors, Child, Child, Preschool, Echocardiography, Female, Follow-Up Studies, Heart Defects, Congenital, Humans, Infant, Infant, Newborn, Middle Aged, Retrospective Studies, Turner Syndrome, United States, Prevalence, Young Adult
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