Riesgo Vascular y Disfunción Endotelial en Pacientes con Aberaciones del Cromosoma X

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

Montevideo

Congreso; XVI Congreso Latinoamericano de Genética; 2016

ALAG

Patients 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 measured in urine. 17% of patients had high blood pressure, 46% hypercholesterolemia, 27% hypertriglyceridemia, 34% hypothyroidism and 63% showed abdominal circumference > 88 cm. Echodoppler studies demonstrated that 63% of patients have 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 regression/correlation but statically significant between ACE2 and brachial dilation.