CARDIOVASCULAR RISK MARKERS IN PATIENTS WITH STRUCTURAL AND NUMERIC ABERRATIONS OF X CHROMOSOME

Abstract

To assess the relationship between RAS, karyotype and cardiovascular risk factors in patients with X chromosome abnormalities.Observational, prospective study with 7 years of evolution. Inclusion Criteria: Presence of aberrations that affect the number or morphology of the X chromosome in karyotype study. Exclusion Criteria: Those who did not give their informed consent to participate in the study. The detection of Y chromosome sequences was performed. The cardiovascular risk factors present were analyzed. Furthermore, exploration of carotid intimal thickness is by ultrasound was performed. The degree of dynamic endothelial dysfunction in the brachial artery (BMD) was also determined. ACE2 and Angiotensin II genes expression were indirectly evaluated in peripheral blood.The monosomy of the X chromosome was the most frequent. There are 57.4% had overweight or obese, 23% had diabetes, 40% had a new diagnosis of hypertension, and 51% had dyslipidemia. In no case, in the patients evaluated with Turner syndrome, was the presence of the Y chromosome sequence found. One patient was found with a short-arm duplication that includes the SHOX gene, evaluated by MLPA. 89% of the patients presented endothelial dysfunction parameters, and 22% presented carotid plaques in the ultrasound study. In multivariate analysis, patients were separated into tertiles, according to the amount of X chromosomal material in the cytogenetic formula to analyze vascular findings. (Table 1).Central obesity present in childhood and adolescence could contribute to the early diagnosis of the metabolic syndrome so characteristic in these patients. The presence of hypertension could have relationship with renin-angiotensin system alterations. Women with monosomy are the ones who would most suffer an early lack of the protective effect of ACE2 with its vasodilator, antiproliferative and antifibrotic properties, among others. The vascular alterations were an independent factor of the variables studied.