Phenotypic symptoms of the connective tissue dysplasia in children with the cardiovascular system pathology

Abstract

Aim. The aim of the study is to reveal the descriptive small developmental abnormalities (SDA) in children with cardiovascular pathology. Methods. By means of the scheme, designed at the Department of Clinical Genetics and Ultrasound Diagnostics of Kharkiv Medical Academy of Postgraduate Education, and the classification, developed by Merks H.M. with co-authors, the phenotype characteristic features were established in 99 patients with the cardiovascular system pathology. Results. The overwhelming number of the examined patients has more than 6 SDA (81.5%). The average level of stigmatization (7-10 SDA) has been determined in 52.5% of patients with cardiovascular pathology. Most of the SDA are concentrated in the craniofacial area (56.5%). No reliable differences have been observed in the number and location of the SDA after dividing the children in dependence with the clinical diagnosis and the results of the Ruffie test. The entire spectrum of the revealed SDA refers to the signs of the connective tissue dysplasia. Conclusions. The high level of SDA, which are typical for the connective tissue dysplasia, may testify to the congenital or acquired defects in the collagen biosynthesis, and, as the consequence, to the disorders in the function of the connective tissue in our patients.
 Keywords: small developmental abnormalities, children, cardiovascular pathology.