Turner's Syndrome: Cardiologic Profile According to the Different Chromosomal Patterns and Long-Term Clinical Follow-Up of 136 Nonpreselected Patients

Prandstraller, Daniela; Mazzanti, Laura; Picchio, Fernando Maria; Magnani, C.; Bergamaschi, R.; Perri, Annamaria; Tsingos, E.; Cacciari, E

doi:10.1007/s002469900416

Cited by 83 publications

(52 citation statements)

References 28 publications

(40 reference statements)

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“…10 In sonographically evaluated studies, the prevalence ranged from 17 to 26%. 1,3,11,12 In this study we found at least one cardiovascular anomaly (CVA) in 29.9%. Since all patients with cytogenetically diagnosed UTS attended either our endocrinologic or cardiologic outpatient department, there may be a potential bias, inherent in most hospital-based studies.…”

Section: Discussionmentioning

confidence: 89%

“…This finding and the usually not excludable presence of mosaicism make planning of phenotype mapping studies difficult. 1,3,12,16,17 Zinn et al investigated 28 Xp-females (age range 1.3-41.5 years), mapping deletions by fluorescent in situ hybridization (FISH) for several phenotypic features; none of them had CVA. 17 The short stature homeobox gene (SHOX) is the first and best gene described to be involved in UTS phenotype features.…”

Section: Discussionmentioning

confidence: 99%

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Cardiovascular anomalies in children and young adults with Ullrich-Turner syndrome-the erlangen experience

et al. 2005

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SummaryBackground: Females with Ullrich-Turner syndrome (UTS) have typical clinical features such as short stature, ovarian failure, visible dysmorphic stigmata, and abnormalities in different organs such as kidney or heart.Hypothesis: The aim of the present study was to analyze the distribution, prevalence, and relative risk of cardiovascular anomalies (CVA) in females with Ullrich-Turner syndrome (UTS) seen at one single center compared with that of the regional Bavarian population.Methods: The associations between CVA and karyotype were determined. In all, 117 girls and women with UTS, aged between 3 and 43 years (median 17.4 years) were studied retrospectively. The detailed cardiologic status including echocardiography was available in all patients. The prevalences of each cardiovascular anomaly were determined. On the basis of published epidemiologic data of CVA in Bavarian children, we assessed the relative risks of each CVA.Results: Thirty-five (29.9%) girls with UTS had at least one CVA. In all of these CVAs, coarctation of the aorta and bicuspid aortic valve occurred most often (18.5% each). The aortic malformations represented over two-thirds of all CVA (72.8%), whereas anomalies of the septum (8.6%), mitral valve (6.2%), pulmonary veins (4.9%), and other locations together accounted for the other third. Bicuspid aortic valve and partial anomalous pulmonary venous drainage were associated with the highest relative risk (RR) (3,603 and 1,293, re-

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Section: Discussionmentioning

confidence: 89%

Section: Discussionmentioning

confidence: 99%

Cardiovascular anomalies in children and young adults with Ullrich-Turner syndrome-the erlangen experience

et al. 2005

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“…14 Both coarctation and bicuspid aortic valve occur more frequently in men, with a prevalence of approximately 4:1. A high prevalence of these same lesions is found in Turner syndrome, 15 a sex aneuploidy syndrome caused by the complete absence of a sex chromosome or the presence of a structurally abnormal one. Structural cardiac anomalies are most prevalent in those women with pure 45X monosomy than in those with an isochromosome Xq karyotype 16 and when Turner patients are compared with the general population, aortic valve disease occurs 146 times more commonly.…”

Section: Aortic Outcomesmentioning

confidence: 84%

Sex Differences in Congenital Heart Disease

Warnes

2008

Circulation

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S ex differences in the clinical presentation, diagnosis, and treatment outcomes of cardiac disease have long been recognized. Since the mid-1980s, the total number of deaths from cardiovascular disease has been higher for women than for men. A greater proportion of women (52%) than men (42%) with myocardial infarction die of sudden cardiac death before reaching the hospital, perhaps in part because women tend to have nonspecific prodromal symptoms rather than chest pain and these symptoms are not recognized as being cardiac in origin. 1 Even after acute myocardial infarction, women are 46% less likely to undergo coronary angiography than men, despite accounting for confounders. 2 Two-thirds of women who suffer a myocardial infarction never completely recover, 3,4 and those who do survive have a 2-fold recurrence of myocardial infarction and mortality during the first year compared with their male counterparts. 5 Article p 26Women with stable angina have higher in-hospital mortality rates 6 and worse outcomes after coronary interventions, both percutaneous and surgical. Following percutaneous coronary interventions women have higher rates of short-and long-term mortality, cardiac events, and the need for emergency coronary artery bypass grafting. This may relate to the comparatively smaller coronary artery size of women, 7 although this is unproven. 8 Higher mortality and complication rates of coronary artery bypass grafting also occur, with women obtaining less functional relief, more frequent hospital readmissions, and lower functional gains than their male counterparts. 9 Whether some of these sex disparities relate to an autoimmune precursor for atherosclerotic disease remains speculative. Sex-specific differences in C-reactive protein, as an inflammatory marker, are consistent with the 10-fold increased frequency of inflammatory-mediated autoimmune diseases, such as rheumatoid arthritis, systemic lupus erythematosus, and thyroiditis in women compared with men. 4,10 Recent studies report atherosclerotic plaque in both the carotid and coronary arteries to be significantly increased in women with systemic lupus erythematosus.Sex differences may also extend to cardiac electrophysiology. Women have higher resting heart rates and longer corrected QT intervals compared with men. 11 Variations in arrhythmia frequency in relation to the menstrual cycle have also been observed. Sudden cardiac death with coronary artery disease has a male-to-female ratio of 1.4:1. 12 Now, in the current issue of Circulation, the article by Verheugt et al 13 from the CONgenital CORvitia (CONCOR) Dutch national registry reports sex differences in outcomes of congenital heart disease. This database comprises over 7000 adult patients with congenital heart disease with a median age of 35 years; half of them are women. No sex differences in mortality were found but 4 specific cardiac outcomes appeared to be different in men and women. Pulmonary HypertensionPulmonary arterial hypertension was defined as a systolic pulmonary pressure above 40...

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“…In some way these neuroectodermal immigrants may influence medial degeneration and cause both aortic dilatation and cerebral aneurysm. http://heart.bmj.com/ lesions is also found in women with Turner's syndrome 14 -a sex aneuploidy syndrome caused by the complete absence of an X chromosome or the presence of a structurally abnormal one. Thus, since aortic disease is mainly a "male domain" and the absence of a normal second X chromosome is associated with aortopathy, one might speculate that a genetic factor that modulates the development of the aorta and valve might be located on the X chromosome.…”

Section: Coarctation: a Diffuse Arteriopathymentioning

confidence: 99%