Participation of angiotensin renin system in vascular disease of patiens with X chromosome aberrations

BERNASCONI P; MIATELLO RM; RAMIREZ JM; CALDERON, A; VARGAS, AL; ECHEVERRIA, MI; REPETTO M; RENNA NF

Mendoza

Jornada; XXXIV Reunion Cientifica Anual de la Sociedad de Biología de Cuyo; 2016

Sociedad de Biología de Cuyo

PARTICIPATION OF ANGIOTENSIN RENIN SYSTEM IN VASCULAR DISEASE OF PATIENTS WITH X CHROMOSOME ABERRATIONSRamirez J1, Echeverría MI1, Bernasconi P3, Calderón A1, Repetto M2, Miatello R3, Vargas AL1, Renna NF2,3 1 Instituto de Genética. Facultad de Ciencias Médicas. UNCuyo. 2Área de fisiología patológica. IMBECU. CONICET. 3 Departamento de Cardiología. Hospital Español de Mendoza. E-mail: jesicamagali@hotmail.comPatients with cytogenetic abnormalities of X chromosome have an increased cardiovascular mortality, making a necessity to stratify their risk. The aim of this study was: to analyze the relationship between the patients´ karyotype and cardiovascular phenotype in order to assess their cardiovascular risk by vascular Doppler ultrasound and dosage of angiotensin converting enzyme 2 (ACE2) using ELISA. A longitudinal descriptive study of clinical research in genetics and cardiology was designed, including 36 patients with X chromosome aberrations who consulted the Institute of Genetics clinic, UNCuyo. Data concerning their cytogenetic findings, clinical and laboratory variants were analyzed. Carotid and brachial arteries Doppler ultrasound was performed and ACE2 levels were measured in urine. Seventeen per cent of patients had high blood pressure, 46% hypercholesterolemia, 27% hypertriglyceridemia, 34% hypothyroidism and 63% showed abdominal circumference > 88 cm. Echo Doppler studies demonstrated that 63% of patients had atherosclerotic carotid disease, including the presence of increased intima-media thickness or atherogenic plaque, and 85% of patients had endothelial dysfunction in the brachial artery study. ACE2 levels were decreased in women with X chromosome abnormality, indicating that it affects the protein synthesis. There is a low but statically significant regression/correlation between ACE2 and brachial dilation.