PARTICIPATION OF ANGIOTENSIN CONVERTING ENZYME 2 IN VASCULAR DISEASE IN PATIENTS WITH X CHROMOSOME ABERRATIONS

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

Mendoza

Congreso; XXII Interamerican Congress of Hypertension; 2017

Interamerican Society of Hypertension

PARTICIPATION OF ANGIOTENSIN RENIN SYSTEM IN VASCULAR DISEASE IN PATIENTS WITH X CHROMOSOME ABERRATIONS.Ramirez J1, Echeverría MI1, Bernasconi P3, Calderón A1, Repetto M2, Miatello R3, Vargas AL1, Renna NF2,31 Instituto de Genética. Facultad de Ciencias Médicas. UNCuyo. 2Área de fisiología patológica. IMBECU. CONICET. 3 Departamento de Cardiología. Hospital Español de Mendoza. jesicamagali@hotmail.com Patients with cytogenetic abnormalities of X chromosome have an increased cardiovascular morbidity and 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 a sample of 36 patients with X chromosome aberrations who consulted the Institute of Genetics clinic at the School of Medicine, UNCuyo. Data concerning their cytogenetic findings, clinical and laboratory variants were analysed. Carotid and brachial arteries doppler ultrasound was performed and ACE2 levels measured in urine. Seventeen per cent of patients had high blood pressure, 46% had hypercholesterolemia, 27% had hypertriglyceridemia, 34% had hypothyroidism and 63% showed abdominal circumference > 88 cm. The echodoppler study demonstrated that 63% of patients have atherosclerotic carotid disease including the presence of an increased intima-media thickness or atherogenic plaque. Eighty five per cent of patients had endothelial dysfunction in the brachial artery study. ACE2 levels in urine were decreased in women with X chromosome abnormality, indicating that in this gender the cytogenetic abnormality affects the protein synthesis. There is a low regression/correlation but statically significant between ACE2 and brachial dilation.