Turner syndrome pdf info
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Individuals with and without evidence of structural cardiac malformations should be monitored for HBP on a lifelong basis. Referral to a cardiologist first may be appropriate, but physical examination does not substitute for visualization. No phenotype:karyotype correlations could be drawn with any certainty.Ĭonclusions. When the diagnosis of Turner syndrome is made, a screening echocardiogram should be obtained. Of these 5, sufficient information regarding predisposing risk factors was provided for only 2. In all except 5, predisposing risk factors of coarctation, bicuspid aortic valve, and/or HBP were present. In the literature, there have been 42 case reports of aortic dissection in Turner syndrome. The third patient had long-standing HBP with malignant obesity. In one, it was traumatic in a second, it occurred at the site of coarctation repair. Aortic dissection occurred in three of the patients. Bicuspid valve was often not detected by examination, but only by echocardiography. Coarctation of the aorta and bicuspid aortic valve, alone or in combination, comprised >50% of the cardiac malformations. Results. A total of 136 (56%) of 244 of these patients had cardiovascular abnormalities, 96 (71%) were structural, 40 (29%) were functional, including hypertension (HBP), mitral valve prolapse and conduction defects. In addition, the medical literature was reviewed for occurrences of aortic dissection in patients with Turner syndrome. A total of 244 of 462 individuals in this population with karyotype-proven Turner syndrome could be evaluated because echocardiograms had been obtained. Data from physical examinations, evaluations by cardiologists, echocardiography results, medical and surgical complications, medical records, and causes of death were analyzed. These individuals have been seen in an ongoing clinic established for the study of the natural history of Turner syndrome. Objective. To evaluate a large population of patients both cross-sectionally and longitudinally to determine the prevalence of cardiovascular malformations, the risk for dissection of the aorta, to determine whether there are phenotype:karyotype correlations that can allow for specific recommendations, and to devise an appropriate screening protocol.ĭesign and Methods. Data have been collected for patients with Turner syndrome. The prevalence and natural history of these findings, the risk for aortic dissection, and the occurrence of cardiovascular disease have all been the subject of debate, as have been the American Academy of Pediatrics recommendations for cardiac screening of patients with Turner syndrome. Background. Turner syndrome (gonadal dysgenesis with sex chromosome abnormalities) is recognized to be a disorder in which cardiovascular malformations are common.