Long‐Term Outcomes in Patients With Turner Syndrome: A 68‐Year Follow‐Up

Published on Jun 4, 2019in Journal of the American Heart Association4.605
· DOI :10.1161/JAHA.118.011501
Margaret M. Fuchs2
Estimated H-index: 2
(Mayo Clinic),
Christine H. Attenhofer Jost11
Estimated H-index: 11
(Mayo Clinic)
+ 2 AuthorsAlexander C. Egbe20
Estimated H-index: 20
(Mayo Clinic)
Sources
Abstract
Background Turner syndrome (TS) is the most common sex chromosome abnormality in women and is associated with increased morbidity and mortality. We describe long‐term outcomes in a large cohort of ...
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References25
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#1Michael SilberbachH-Index: 26
Last. Luciana T. YoungH-Index: 4
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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 he...
51 CitationsSource
#2Niels H. AndersenH-Index: 30
Last. Philippe Backeljauw (Cincinnati Children's Hospital Medical Center)H-Index: 23
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Turner syndrome affects 25-50 per 100,000 females and can involve multiple organs through all stages of life, necessitating multidisciplinary approach to care. Previous guidelines have highlighted this, but numerous important advances have been noted recently. These advances cover all specialty fields involved in the care of girls and women with TS. This paper is based on an international effort that started with exploratory meetings in 2014 in both Europe and the USA, and culminated with a Cons...
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#1Jianguang Ji (Lund University)H-Index: 36
#2Bengt Zöller (Lund University)H-Index: 39
Last. Kristina Sundquist (Stanford University)H-Index: 79
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The risk of solid and hematological malignancy in patients with Turner syndrome, characterized by X chromosome monosomy in women, and Klinefelter syndrome, characterized with two and more X chromosomes in men, is not well established, but such evidence may have etiological implications on cancer development. We identified a total of 1,409 women with Turner syndrome and 1,085 men with Klinefelter syndrome from the Swedish Hospital Discharge and Outpatient Register. These individuals were further ...
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#1Emilio Quezada (OHSU: Oregon Health & Science University)H-Index: 7
#2Jodi Lapidus (OHSU: Oregon Health & Science University)H-Index: 36
Last. Michael Silberbach (OHSU: Oregon Health & Science University)H-Index: 26
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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 tall...
28 CitationsSource
#1Lynne L. Levitsky (Harvard University)H-Index: 30
Last. Angela E. LinH-Index: 59
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Purpose of reviewWe review recent understanding of the pathophysiology, molecular biology, and management of Turner syndrome.Recent findingsSophisticated genetic techniques are able to detect mosaicism in one-third of individuals previously thought to have monosomy X. Prenatal detection using matern
29 CitationsSource
Aortic dilatation and aortic dissection are increasingly recognised in patients with Turner syndrome (TS). Risk factors for aortic dissection include aortic dilatation, bicuspid aortic valves, coarctation of aorta and pregnancy. The risk of death due to aortic dissection in pregnancy in TS is 2%, which is approximately 100 times higher than the general population, as maternal mortality is extremely low. Ongoing cardiovascular monitoring is recommended, although there remain several unanswered qu...
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#1Sarah A. LawsonH-Index: 3
#2Elaine M. Urbina (Cincinnati Children's Hospital Medical Center)H-Index: 55
Last. Philippe BackeljauwH-Index: 23
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Context: Turner syndrome (TS) carries an increased risk for vascular disease, or vasculopathy. Objective: Vasculopathy can be detected in young TS patients. Design and Patients: Vasculopathy was prospectively assessed by measuring vascular function and structure in TS patients (n = 49) and lean (L) (n = 76) and obese (O) controls (n = 52) through noninvasive techniques. Controls were drawn from previously known adolescents who were age-matched and disease-free. Data collected: Pulse wave velocit...
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Liver test abnormalities are frequent in adult patients with Turner syndrome, corresponding to various pathophysiological mechanisms. Steatosis, steatofibrosis and steatohepatitis are the most frequently reported lesions, caused by metabolic disorders, which are commonly related to overweight. Marked architectural changes, including nodular regenerative hyperplasia, multiple focal nodular hyperplasia and cirrhosis, found in some patients, are associated with a risk of severe liver-related compli...
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#1Kristian H. Mortensen (University of Cambridge)H-Index: 18
#2Niels H. Andersen (Aarhus University Hospital)H-Index: 30
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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 popula...
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#2Britta E Hjerrild (Aarhus University Hospital)H-Index: 15
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Background: Ectatic aortopathy and arterial abnormalities cause excess morbidity and mortality in Turner syndrome, where a state of vasculopathy seemingly extends into the major head and neck branch arteries. Objective: We investigated the prevalence of abnormalities of the major intrathoracic arteries, their interaction with arterial dimensions, and their association with karyotype. Design: Magnetic resonance imaging scans determined the arterial abnormalities as well as head and neck branch ar...
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Turner syndrome (TS) is a rare disease (ORPHA #881) which affects about 50 in 100 000 newborn girls. Their karyotype shows a complete or partial loss of the second X chromosome. In TS, congenital cardiovascular malformations, such as bicuspid aortic valves and aortic coarctation are frequent, affecting 20-30% and 7-18% of the TS population, respectively. The morbidity and mortality of these patients are high and related to the presence of hypertension and/or aortic dilatation (40%), inducing aor...
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