Cardiovascular and renal anomalies in Turner syndrome

Abstract

SUMMARYobjectIve. To evaluate the frequency and type of cardiovascular (CV) and renal/collecting system (R/ CS) abnormalities seen in a sample of patients with Turner Syndrome (TS) and to verify the proportion of those anomalies detected only after diagnosis was established. Methods. Retrospective study of 130 patients with TS diagnosed in an outpatient setting between 1989 and 2006. The mean age at diagnosis was 11.9 years. Data were obtained by personal history of CV and R/CS disorders and by results of echocardiogram and ultrasonography of the kidneys and collecting system performed after diagnosis. results. 25.6% of patients who underwent echocardiograms presented CV abnormalities. Among them, mitral regurgitation (21.4%), bicuspid aortic valve (19%) and aortic coarctation (19%) were the most frequent. R/CS anomalies were found in 29.3% of patients who underwent ultrasonography. Among them, duplication of the collecting system and hydronephrosis (25% each) and horseshoe kidney (21.2%) were the most frequent. In about 80% of cases there was no previous knowledge of these anomalies. conclusIon. The frequency of CV and R/CS abnormalities found in this study was similar to that of previous studies, but most were found in routine exams after TS diagnosis. Thus, early detection of associated anomalies depends on early detection of TS.

An overview of recently published medical papers in Brazilian scientific journals

“…Oliveira et al72 evaluated risk factors related to occurrence of female urinary incontinence and found that independent risk factors include age, vaginal delivery, forceps delivery, and weight of largest infant and as a protective factor, cesarean section delivery. Carvalho et al73 assessed frequency and type of cardiovascular and renal/collecting system abnormalities seen in a sample of patients with Turner Syndrome and found that abnormalities found in this study was similar to those of previous studies, but most were found in routine exams after Turner Syndrome diagnosis. Thus, early detection of associated anomalies depends on early detection of TS.…”

A survey of recently published cardiovascular, hematological and pneumological original articles in the Brazilian scientific press

“…Correia et al56 evaluated whether moderate renal dysfunction is associated with cTnT elevation in patients with acute coronary syndrome and found that moderate renal dysfunction is not associated with cTnT elevation in these patients. Carvalho et al57 evaluated the frequency and type of cardiovascular and renal/collecting system abnormalities seen in a sample of patients with Turner Syndrome and found that the frequency of such abnormalities was similar to that of previous studies, but most were found in routine exams after Turner Syndrome diagnosis.…”

Turner syndrome and genetic polymorphism: a systematic review

“…3 TS is characterized by large phenotypic variability, ranging from the classical form (girls with pubertal development and growth delay) to those with few dysmorphic signs, which are almost indistinguishable from the general population. 6 In Brazil, the mean age of TS diagnosis is around 12 years of age, 4,7,9,10 and 25.3% and 51.1% of the patients were respectively diagnosed in childhood (1---11 years) and adolescence (12---18 years), on account of the short stature. TS chromosomal etiology was only elucidated in 1959, when the first patient was investigated by cytogenetics and showed the 45, X chromosomal constitution.…”