Prevalence of cardiovascular malformations and association with karyotypes in Turner's syndrome.

Abstract

The aim of the study was to establish the prevalence of cardiovascular malformations in females with Turner's syndrome and analyse possible associations with the various karyotypes. One hundred and seventy nine of 393 females who had Turner's syndrome diagnosed in Denmark were examined. Complete chromosome analysis was available in all cases. Clinical examination, electrocardiography, and echocardiography including Doppler were performed.The distribution of the various karyotypes was 45,X, 58%; mosaic monosomy X, 35%/o; and structural abnormalities of the X chromosome, 7%. In 46 (26%) of the females a total of 69 cardiovascular malformations were found; aortic valve abnormality (18%) and aortic coarctation (10%) being the most common. There was a significant difference in the prevalence of cardiovascular malformations between 45,X and mosaic monosomy X (38% v 1 1%), primarily due to a significant difference in the prevalence of aortic valve abnormalities and aortic coarctation. Pulmonary valve abnormalities were seen only in females with mosaic monosomy X but the prevalence was low (3%). No patient with structural abnormalities of the X chromosome had cardiovascular malformations.

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

“…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.…”

“…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.…”

“…Cardiovascular anomalies, in particular bicuspid aortic valve and aortic coarctation, were found to be very common in these girls and women, ranging from 17 to 47%. [1][2][3] In recent years, most medical attention has been focused on the improvement of final height by recombinant human growth hormone therapy. [4][5][6][7] Another important therapeutic goal is substitution with estrogens in order to induce and maintain normal sexual development and to achieve optimal skeletal maturation.…”

Epidemiological, endocrine and metabolic features in Turner syndrome

“…How should a person with 5% (or less) 45,X cells and 95% 46,XX cells be considered, knowing that normally a karyotype is performed on Table 1 Detailed list of abnormalities associated with Turner syndrome with the tentative frequency of a specific abnormality given as a percentage. The table is compiled from different sources (8,55,178,296,305,307,321,350).…”

Bicuspid aortic valve disease

“…(27) In addition to valve morphology, more complete phenotypic classifications also include typing of aortic dilation. (25) In most patients, a BAV is an isolated anomaly, but can be more prevalent in certain conditions ( (47)(48)(49) 23% (50) 84 -89% (51,52) 39 -47% (53,54) 14 -30% (56)(57)(58) 5 -11% (55,59) Notes Large variability due in part due to heterogeneous reporting and nomenclature Subaortic stenosis predisposes to valve damage leading to aortic regurgitation Recurrence of subaortic stenosis after resection is common (20%) BAV was not initially described as part of the Shone complex Frequent structural abnormalities of aortic valve are present (55) 95% show R-L cusp fusion High prevalence of both ascending aortic dilation and aortic coarctation…”