Сardiovascular involvement in patients with Alport syndrome
Abstract The paper presents the data of clinical observations of a group consisting of 54 patients with Alport syndrome (AS). Nineteen patients were found to have mutations in the genes responsible for the development of the disease. Kidney biopsy was carried out in 21 patients who had characteristic changes, as detected by electron microscopy. In the other patients, the diagnosis was made on the basis of a set of anamnestic, clinical, laboratory, and instrumental data. Practically all the patients with AS were found to have cardiovascular system lesions: hypertension in half of them; aortic valve ring dilation (Z-score >1.65) in 0.83% of cases; aortic root dilation in 0.57; and aortic insufficiency in 0.54%. Dilation of the ascending aorta (0.37%) and that of the left ventricle (0.11%) were revealed more rarely. Ascending aortic dilation was more common in male patients.
Keywords:Alport syndrome, children, cardiovascular system, aorta, aortic valve, connective tissue dysplasia
Clin. Experiment. Surg. Petrovsky J. 2015. № 2. Р. 93–96.
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