The Experts below are selected from a list of 19398 Experts worldwide ranked by ideXlab platform
Claus Hojbjerg Gravholt - One of the best experts on this subject based on the ideXlab platform.
-
Emerging Aspects of Turner Syndrome
European Endocrinology, 2020Co-Authors: Claus Hojbjerg Gravholt, Kirstine Stochholm, Line Cleemann, Kristian H. MortensenAbstract:Turner Syndrome is a genetic disorder caused by abnormalities of the X chromosome. It occurs in 50 in 100,000 live-born girls. Turner Syndrome is associated with reduced adult height, gonadal dysgenesis and insufficient circulating levels of female sex steroids, leading to premature ovarian failure and infertility. Average intellectual performance is within the normal range. Treatment with growth hormone during childhood and adolescence allows a considerable gain in adult height. Short stature homeobox (SHOX) deficiency explains some of the phenotypic characteristics of Turner Syndrome, principally short stature. Puberty has to be induced in most cases, and female sex hormone replacement therapy is given during adulthood. Morbidity and mortality are increased throughout life, in particular as a result of congenital and acquired cardiovascular disease, type 2 diabetes, osteoporosis and thyroid disease. In summary, Turner Syndrome is a condition associated with a number of diseases and conditions that calls for the attention of a multidisciplinary team.
-
Turner Syndrome: mechanisms and management
Nature Reviews Endocrinology, 2019Co-Authors: Claus Hojbjerg Gravholt, Kirstine Stochholm, Mette H. Viuff, Sara Brun, Niels H. AndersenAbstract:Turner Syndrome is a rare condition in women that is associated with either complete or partial loss of one X chromosome, often in mosaic karyotypes. Turner Syndrome is associated with short stature, delayed puberty, ovarian dysgenesis, hypergonadotropic hypogonadism, infertility, congenital malformations of the heart, endocrine disorders such as type 1 and type 2 diabetes mellitus, osteoporosis and autoimmune disorders. Morbidity and mortality are increased in women with Turner Syndrome compared with the general population and the involvement of multiple organs through all stages of life necessitates a multidisciplinary approach to care. Despite an often conspicuous phenotype, the diagnostic delay can be substantial and the average age at diagnosis is around 15 years of age. However, numerous important clinical advances have been achieved, covering all specialty fields involved in the care of girls and women with Turner Syndrome. Here, we present an updated Review of Turner Syndrome, covering advances in genetic and genomic mechanisms of disease, associated disorders and multidisciplinary approaches to patient management, including growth hormone therapy and hormone replacement therapy.
-
Coronary artery anomalies in Turner Syndrome
Journal of Cardiovascular Computed Tomography, 2016Co-Authors: Mette H. Viuff, Claus Hojbjerg Gravholt, Kristian H. Mortensen, Bjarne L. Nørgaard, Christian Trolle, Jesper M. Jensen, Ephraim Gutmark, Iris Gutmark-little, Niels H. AndersenAbstract:Abstract Background Congenital heart disease, primarily involving the left-sided structures, is often seen in patients with Turner Syndrome. Moreover, a few case reports have indicated that coronary anomalies may be more prevalent in Turner Syndrome than in the normal population. We therefore set out to systematically investigate coronary arterial anatomy by computed tomographic coronary angiography (coronary CTA) in Turner Syndrome patients. Methods Fifty consecutive women with Turner Syndrome (mean age 47 years [17–71]) underwent coronary CTA. Patients were compared with 25 gender-matched controls. Results Coronary anomaly was more frequent in patients with Turner Syndrome than in healthy controls [20% vs. 4% (p = 0.043)]. Nine out of ten abnormal cases had an anomalous left coronary artery anatomy (absent left main trunk, n = 7; circumflex artery originating from the right aortic sinus, n = 2). One case had a tubular origin of the right coronary artery above the aortic sinus. There was no correlation between the presence of coronary arterial anomalies and karyotype, bicuspid aortic valve, or other congenital heart defects. Conclusion Coronary anomalies are highly prevalent in Turner Syndrome. The left coronary artery is predominantly affected, with an absent left main coronary artery being the most common anomaly. No hemodynamically relevant coronary anomalies were found.
-
Multimodality cardiac imaging in Turner Syndrome
Cardiology in The Young, 2016Co-Authors: Kristian H. Mortensen, Niels H. Andersen, Deepa Gopalan, Bjarne L. Nørgaard, Claus Hojbjerg GravholtAbstract:Congenital and acquired cardiovascular diseases contribute significantly to the threefold elevated risk of premature death in Turner Syndrome. A multitude of cardiovascular anomalies and disorders, many of which deleteriously impact morbidity and mortality, is frequently left undetected and untreated because of poor adherence to screening programmes and complex clinical presentations. Imaging is essential for timely and effective primary and secondary disease prophylaxis that may alleviate the severe impact of cardiovascular disease in Turner Syndrome. This review illustrates how cardiovascular disease in Turner Syndrome manifests in a complex manner that ranges in severity from incidental findings to potentially fatal anomalies. Recommendations regarding the use of imaging for screening and surveillance of cardiovascular disease in Turner Syndrome are made, emphasising the key role of non-invasive and invasive cardiovascular imaging to the management of all patients with Turner Syndrome.
-
cardiovascular phenotype in Turner Syndrome integrating cardiology genetics and endocrinology
Endocrine Reviews, 2012Co-Authors: Kristian H. Mortensen, Niels H. Andersen, Claus Hojbjerg GravholtAbstract:Cardiovascular disease is emerging as a cardinal trait of Turner Syndrome, being responsible for half of the 3-fold excess mortality. Turner Syndrome has been proposed as an independent risk marker for cardiovascular disease that manifests as congenital heart disease, aortic dilation and dissection, valvular heart disease, hypertension, thromboembolism, myocardial infarction, and stroke. Risk stratification is unfortunately not straightforward because risk markers derived from the general population inadequately identify the subset of females with Turner Syndrome who will suffer events. A high prevalence of endocrine disorders adds to the complexity, exacerbating cardiovascular prognosis. Mounting knowledge about the prevalence and interplay of cardiovascular and endocrine disease in Turner Syndrome is paralleled by improved understanding of the genetics of the X-chromosome in both normal health and disease. At present in Turner Syndrome, this is most advanced for the SHOX gene, which partly explains the ...
Michael Silberbach - One of the best experts on this subject based on the ideXlab platform.
-
cardiovascular health in Turner Syndrome a scientific statement from the american heart association
Circulation: Genomic and Precision Medicine, 2018Co-Authors: Michael Silberbach, Niels H. Andersen, Jolien W Rooshesselink, Alan C Braverman, Nicole Brown, Thomas R Collins, Julie De Backer, Kim A Eagle, Loren F Hiratzka, Walter H JohnsonAbstract:Girls and women with Turner Syndrome face a lifelong struggle with both congenital heart disease and acquired cardiovascular conditions. Bicuspid aortic valve is common, and many have left-sided heart obstructive disease of varying severity, from hypoplastic left-sided heart Syndrome to minimal aortic stenosis or coarctation of the aorta. Significant enlargement of the thoracic aorta may progress to catastrophic aortic dissection and rupture. It is becoming increasingly apparent that a variety of other cardiovascular conditions, including early-onset hypertension, ischemic heart disease, and stroke, are the major factors reducing the life span of those with Turner Syndrome. The presentations and management of cardiovascular conditions in Turner Syndrome differ significantly from the general population. Therefore, an international working group reviewed the available evidence regarding the diagnosis and treatment of cardiovascular diseases in Turner Syndrome. It is recognized that the suggestions for clinical practice stated here are only the beginning of a process that must also involve the establishment of quality indicators, structures and processes for implementation, and outcome studies.
-
Aortic dimensions in Turner Syndrome
American Journal of Medical Genetics Part A, 2015Co-Authors: Emilio Quezada, Jodi Lapidus, Robin Shaughnessy, Zunqiu Chen, Michael SilberbachAbstract:In Turner Syndrome, linear growth is less than the general population. Consequently, to assess stature in Turner Syndrome, condition-specific comparators have been employed. Similar reference curves for cardiac structures in Turner Syndrome are currently unavailable. Accurate assessment of the aorta is particularly critical in Turner Syndrome because aortic dissection and rupture occur more frequently than in the general population. Furthermore, comparisons to references calculated from the taller general population with the shorter Turner Syndrome population can lead to over-estimation of aortic size causing stigmatization, medicalization, and potentially over-treatment. We used echocardiography to measure aortic diameters at eight levels of the thoracic aorta in 481 healthy girls and women with Turner Syndrome who ranged in age from two to seventy years. Univariate and multivariate linear regression analyses were performed to assess the influence of karyotype, age, body mass index, bicuspid aortic valve, blood pressure, history of renal disease, thyroid disease, or growth hormone therapy. Because only bicuspid aortic valve was found to independently affect aortic size, subjects with bicuspid aortic valve were excluded from the analysis. Regression equations for aortic diameters were calculated and Z-scores corresponding to 1, 2, and 3 standard deviations from the mean were plotted against body surface area. The information presented here will allow clinicians and other caregivers to calculate aortic Z-scores using a Turner-based reference population. © 2015 Wiley Periodicals, Inc.
-
moderate aortic enlargement and bicuspid aortic valve are associated with aortic dissection in Turner Syndrome report of the international Turner Syndrome aortic dissection registry
Circulation, 2012Co-Authors: Misty Carlson, Leo Lopez, Nathan Airhart, Michael SilberbachAbstract:Background —Girls and women with Turner Syndrome are at risk for aortic dissection and rupture. However the size of the aorta and the clinical characteristics among those with Turner Syndrome and dissection has received little attention. Methods and Results —We obtained medical records from 20 individuals who voluntarily participated in the International Turner Syndrome Aortic Dissection (ITSAD) Registry. Type-A dissections occurred in 17/20 (85%) and type-B occurred in 3 cases where 1 occurred after coarctation stent placement. Of those with spontaneous aortic dissections, 18/19 (95%) had an associated cardiac malformation that included a bicuspid aortic valve. In one individual there was no predisposing finding other than having Turner Syndrome. Associated pregnancy was documented in 1/19 (5%). More than half (13/19, 68%) came to medical attention > 24 hours after the onset of symptoms. For those with type-A dissections the mean ascending aortic size index (ASI-AAO) was 2.7 ± 0.6 cm/m2 (n=9). Conclusions —Aortic dissection in TS occurs in young individuals at smaller aortic diameters than the general population or other forms of genetically triggered aortopathy. The absence of aortic valve or other cardiac malformations appears to markedly reduce the risk of aortic dissection However, aortic dissection can occur in TS without cardiac malformations or hypertension. TS individuals > 18 years with an ASI-AAO above 2.5 cm/m2 should be considered for an aortic operation to prevent aortic dissection.
-
Turner Syndrome is an independent risk factor for aortic dilation in the young
Pediatrics, 2008Co-Authors: Leo Lopez, Kristopher L Arheart, Steven D Colan, Nancy Strickman Stein, Gabriela Lopezmitnik, Mark D Reller, Roque Ventura, Michael SilberbachAbstract:OBJECTIVE. Because aortic dilation increases the risk for dissection in the general adult population, and dissection occurs with greater frequency at a young age with Turner Syndrome, we studied the prevalence, magnitude, and determinants of aortic dilation in a large group of girls and young women with Turner Syndrome. PATIENTS AND METHODS. Participants at annual Turner Syndrome society meetings completed a questionnaire regarding their medical history. Echocardiographic measurements of their aorta were converted to z scores by using data from a larger group of normal control female subjects. Bivariable and multivariable analyses evaluated the effects of Turner Syndrome features, such as a bicuspid aortic valve, coarctation, growth-hormone therapy, blood pressure, and karyotype, on aortic size. RESULTS. Among 138 individuals with Turner Syndrome 18 years old, 49% had the 45,X karyotype, 26% had bicuspid aortic valve, 17% had a history of coarctation, 78% had a history of growth-hormone therapy, and 40% had hypertension. Aortic z scores were calculated by using data from 407 control subjects. Bivariable analyses revealed that a bicuspid aortic valve, growth hormone, and 45,X karyotype predicted a larger proximal aorta at 1 level. Multivariable analysis predicted a larger proximal aorta at all of the levels only for bicuspid aortic valve individuals and at the annular level for those who received growth hormone. Importantly, all of the analyses revealed that Turner Syndrome predicted a larger proximal aorta independent of these characteristics. CONCLUSIONS. Among young individuals with Turner Syndrome, a bicuspid aortic valve predicts a larger proximal aorta, and growth-hormone use may predict a larger aortic annulus. Compared with a control population, Turner Syndrome alone is an independent risk factor for aortic dilation. Pediatrics 2008;121:e1622–e1627
Carolyn A Bondy - One of the best experts on this subject based on the ideXlab platform.
-
spectrum of aortic valve abnormalities associated with aortic dilation across age groups in Turner Syndrome
Circulation-cardiovascular Imaging, 2013Co-Authors: Laura Olivieri, Ridhwan Y Baba, Andrew E Arai, Patricia W Bandettini, Douglas R Rosing, Vladimir K Bakalov, Vandana Sachdev, Carolyn A BondyAbstract:Background— Congenital aortic valve fusion is associated with aortic dilation, aneurysm, and rupture in girls and women with Turner Syndrome. Our objective was to characterize aortic valve structure in subjects with Turner Syndrome and to determine the prevalence of aortic dilation and valve dysfunction associated with different types of aortic valves. Methods and Results— The aortic valve and thoracic aorta were characterized by cardiovascular MRI in 208 subjects with Turner Syndrome in an institutional review board–approved natural history study. Echocardiography was used to measure peak velocities across the aortic valve and the degree of aortic regurgitation. Four distinct valve morphologies were identified: tricuspid aortic valve, 64% (n=133); partially fused aortic valve, 12% (n=25); bicuspid aortic valve, 23% (n=47); and unicuspid aortic valve, 1% (n=3). Age and body surface area were similar in the 4 valve morphology groups. There was a significant trend, independent of age, toward larger body surface area–indexed ascending aortic diameters with increasing valve fusion. Ascending aortic diameters were (mean±SD) 16.9±3.3, 18.3±3.3, and 19.8±3.9 mm/m2 ( P <0.0001) for tricuspid aortic valve, partially fused aortic valve, and bicuspid aortic valve+unicuspid aortic valve, respectively. Partially fused aortic valve, bicuspid aortic valve, and unicuspid aortic valve were significantly associated with mild aortic regurgitation and elevated peak velocities across the aortic valve. Conclusions— Aortic valve abnormalities in Turner Syndrome occur with a spectrum of severity and are associated with aortic root dilation across age groups. Partial fusion of the aortic valve, traditionally regarded as an acquired valve problem, had an equal age distribution and was associated with an increased ascending aortic diameters.
-
aortic dissection in Turner Syndrome
Current Opinion in Cardiology, 2008Co-Authors: Carolyn A BondyAbstract:Purpose of reviewTurner Syndrome is a relatively common disorder of female development with cardinal features of short stature and congenital cardiovascular defects (CHD). Turner Syndrome is the most common established cause of aortic dissection in young women, but has received little attention outs
-
congenital cardiovascular disease in Turner Syndrome
Congenital Heart Disease, 2008Co-Authors: Carolyn A BondyAbstract:Turner Syndrome (TS), or monosomy X, occurs in ∼1/2000 live born females. Intelligence is normal and short stature is the most obvious and consistent feature of the Syndrome. Congenital cardiovascular disease affects ∼50% of individuals and is the major cause of premature mortality in adults. Unfortunately, this most important aspect of the Syndrome has received little attention outside of pediatric medicine, and adult cardiological follow-up is seriously lacking. This review describes the spectrum of cardiovascular defects with particular attention to identifying risk factors for aortic dissection/rupture. X-chromosome genetic pathways implicated in Turner cardiovascular disease, including premature coronary artery disease, are discussed. Recent guidelines for diagnosis and treatment of girls and women with TS are reviewed.
-
care of girls and women with Turner Syndrome a guideline of the Turner Syndrome study group
The Journal of Clinical Endocrinology and Metabolism, 2007Co-Authors: Carolyn A BondyAbstract:Objectives: The objective of this work is to provide updated guidelines for the evaluation and treatment of girls and women with Turner Syndrome (TS). Participants: The Turner Syndrome Consensus Study Group is a multidisciplinary panel of experts with relevant clinical and research experience with TS that met in Bethesda, Maryland, April 2006. The meeting was supported by the National Institute of Child Health and unrestricted educational grants from pharmaceutical companies. Evidence: The study group used peer-reviewed published information to form its principal recommendations. Expert opinion was used where good evidence was lacking. Consensus: The study group met for 3 d to discuss key issues. Breakout groups focused on genetic, cardiological, auxological, psychological, gynecological, and general medical concerns and drafted recommendations for presentation to the whole group. Draft reports were available for additional comment on the meeting web site. Synthesis of the section reports and final revisi...
P A Jacobs - One of the best experts on this subject based on the ideXlab platform.
-
mortality in women with Turner Syndrome in great britain a national cohort study
The Journal of Clinical Endocrinology and Metabolism, 2008Co-Authors: Minouk J Schoemaker, Anthony J Swerdlow, Craig D Higgins, Alan F Wright, P A JacobsAbstract:Context: Turner Syndrome is characterized by complete or partial X chromosome monosomy. It is associated with substantial morbidity, but mortality risks and causes of death are not well described. Objectives: Our objective was to investigate mortality and causes of death in women with Turner Syndrome. Design and Setting: We constructed a cohort of women diagnosed with Turner Syndrome at almost all cytogenetic centers in Great Britain and followed them for mortality. Patients: A total of 3439 women diagnosed between 1959–2002 were followed to the end of 2006. Outcome Measures: Standardized mortality ratios (SMRs) and absolute excess risks were evaluated. Results: In total, 296 deaths occurred. Mortality was significantly raised overall [SMR = 3.0; 95% confidence interval (CI) = 2.7–3.4] and was raised for nearly all major causes of death. Circulatory disease accounted for 41% of excess mortality, with greatest SMRs for aortic aneurysm (SMR = 23.6; 95% CI = 13.8–37.8) and aortic valve disease (SMR = 17.9; 9...
-
cancer incidence in women with Turner Syndrome in great britain a national cohort study
Lancet Oncology, 2008Co-Authors: Minouk J Schoemaker, Anthony J Swerdlow, Craig D Higgins, Alan F Wright, P A JacobsAbstract:Summary Background Turner Syndrome, one of the most common cytogenetic abnormalities, is characterised by complete or partial X-chromosome monosomy. Cancer risks in women with Turner Syndrome have not been clearly established. We aimed to compare the risk of cancer in women with this Syndrome with that of the general population. Methods We formed a national cohort of 3425 women who were cytogenetically diagnosed with Turner Syndrome in Great Britain between 1959 and 2002. Identifying information for these patients was sent to the National Health Service Central Register (NHSCR) for England and Wales and to the NHSCR for Scotland. Individuals who were identified on this register were followed-up for cancer incidence. Standardised incidence ratios (SIRs) and 95% CIs were calculated on the basis of the number of cancers observed compared with that expected based on national incidence rates. Cumulative risk estimates were obtained by use of the Kaplan-Meier method. Findings A total of 58 299 person-years were accrued during the study, with a mean of 17·0 years (SD 8·6) follow-up per patient. 73 malignancies other than non-melanoma skin cancer occurred (SIR 0·9 [95% CI 0·7–1·2]). Risks were significantly increased for tumours of the CNS (n=13; 4·3 [2·3–7·4]), especially for meningioma (n=7; 12·0 [4·8–24·8]) and childhood brain tumours (n=3; 10·3 [2·1–30·1]), and for cancers of the bladder and urethra (n=5; 4·0 [1·3–9·2]) and eye (n=2; 10·5 [1·3–37·9]), compared with the general population. However, the risk of breast cancer was significantly decreased (n=10; 0·3 [0·2–0·6]). The SIR for cutaneous melanoma was 2·2 (95% CI 1·0–4·4; n=8), and one of the ocular cancers was a melanoma. The risk of corpus uteri cancer was significantly increased at ages 15–44 years (n=3; 8·0 [1·6–23·2]). During follow-up, five women, all with a Y-chromosome lineage, developed gonadoblastoma of the ovary, corresponding to a cumulative risk of 7·9% (95% CI 3·1–19·0) by age 25 years in this group. Interpretation This study shows that, in addition to having an increased risk of gonadoblastoma, women with Turner Syndrome seem to be at increased risk for meningioma and childhood brain tumours, and possibly bladder cancer, melanoma, and corpus uteri cancer, but are at a decreased risk for breast cancer. Reasons for these risks might relate to genetic and hormonal factors or to the effects of hormonal treatments given to women with Turner Syndrome.
-
Turner Syndrome a cytogenetic and molecular study
Annals of Human Genetics, 1997Co-Authors: P A Jacobs, P Dalton, R S James, K Mosse, M Power, David Robinson, David SkuseAbstract:Two hundred and eleven patients with a clinical diagnosis of Turner Syndrome were studied. We report (i) the cytogenetic results, (ii) the frequency of cryptic mosaicism and (iii) the parental age and the parental origin of the abnormality. We scored 100 cells from blood cultures and found 97 patients to have a 45,X constitution, 15 to be 45,X/46,XX or 45,X/47,XXX mosaics, 86 to have a structurally abnormal X and 13 to have a structurally abnormal Y chromosome. Molecular methods were used to look for cryptic X and Y chromosome mosaicism in patients with a 45,X constitution. Two cryptic X but no cryptic Y mosaics were detected. In 74% of the 45,X patients the X was maternal in origin. The i(Xq)s were approximately equally likely to involve the paternal or maternal chromosome, while the majority of deletions and rings and virtually all the abnormal Y chromosomes were paternal in origin. We suggest that the preponderance of paternal errors in Turner Syndrome may result from the absence of pairing along the greater part of the XY bivalent during paternal mei I, which may make the sex chromosomes particularly susceptible to both structural and non-disjunctional errors during male gametogenesis.
Leo Lopez - One of the best experts on this subject based on the ideXlab platform.
-
moderate aortic enlargement and bicuspid aortic valve are associated with aortic dissection in Turner Syndrome report of the international Turner Syndrome aortic dissection registry
Circulation, 2012Co-Authors: Misty Carlson, Leo Lopez, Nathan Airhart, Michael SilberbachAbstract:Background —Girls and women with Turner Syndrome are at risk for aortic dissection and rupture. However the size of the aorta and the clinical characteristics among those with Turner Syndrome and dissection has received little attention. Methods and Results —We obtained medical records from 20 individuals who voluntarily participated in the International Turner Syndrome Aortic Dissection (ITSAD) Registry. Type-A dissections occurred in 17/20 (85%) and type-B occurred in 3 cases where 1 occurred after coarctation stent placement. Of those with spontaneous aortic dissections, 18/19 (95%) had an associated cardiac malformation that included a bicuspid aortic valve. In one individual there was no predisposing finding other than having Turner Syndrome. Associated pregnancy was documented in 1/19 (5%). More than half (13/19, 68%) came to medical attention > 24 hours after the onset of symptoms. For those with type-A dissections the mean ascending aortic size index (ASI-AAO) was 2.7 ± 0.6 cm/m2 (n=9). Conclusions —Aortic dissection in TS occurs in young individuals at smaller aortic diameters than the general population or other forms of genetically triggered aortopathy. The absence of aortic valve or other cardiac malformations appears to markedly reduce the risk of aortic dissection However, aortic dissection can occur in TS without cardiac malformations or hypertension. TS individuals > 18 years with an ASI-AAO above 2.5 cm/m2 should be considered for an aortic operation to prevent aortic dissection.
-
Turner Syndrome is an independent risk factor for aortic dilation in the young
Pediatrics, 2008Co-Authors: Leo Lopez, Kristopher L Arheart, Steven D Colan, Nancy Strickman Stein, Gabriela Lopezmitnik, Mark D Reller, Roque Ventura, Michael SilberbachAbstract:OBJECTIVE. Because aortic dilation increases the risk for dissection in the general adult population, and dissection occurs with greater frequency at a young age with Turner Syndrome, we studied the prevalence, magnitude, and determinants of aortic dilation in a large group of girls and young women with Turner Syndrome. PATIENTS AND METHODS. Participants at annual Turner Syndrome society meetings completed a questionnaire regarding their medical history. Echocardiographic measurements of their aorta were converted to z scores by using data from a larger group of normal control female subjects. Bivariable and multivariable analyses evaluated the effects of Turner Syndrome features, such as a bicuspid aortic valve, coarctation, growth-hormone therapy, blood pressure, and karyotype, on aortic size. RESULTS. Among 138 individuals with Turner Syndrome 18 years old, 49% had the 45,X karyotype, 26% had bicuspid aortic valve, 17% had a history of coarctation, 78% had a history of growth-hormone therapy, and 40% had hypertension. Aortic z scores were calculated by using data from 407 control subjects. Bivariable analyses revealed that a bicuspid aortic valve, growth hormone, and 45,X karyotype predicted a larger proximal aorta at 1 level. Multivariable analysis predicted a larger proximal aorta at all of the levels only for bicuspid aortic valve individuals and at the annular level for those who received growth hormone. Importantly, all of the analyses revealed that Turner Syndrome predicted a larger proximal aorta independent of these characteristics. CONCLUSIONS. Among young individuals with Turner Syndrome, a bicuspid aortic valve predicts a larger proximal aorta, and growth-hormone use may predict a larger aortic annulus. Compared with a control population, Turner Syndrome alone is an independent risk factor for aortic dilation. Pediatrics 2008;121:e1622–e1627
