Русский
Signs of connective tissue dysplasia and the gene for endothelial nitric synthase type 3 (NOS3) in case of Wolff–Parkinson–White syndrome
DOI: https://dx.doi.org/10.18565/therapy.2020.6.27-34
Chernova A.A., Nikulina S.Yu., Matyushin G.V., Lebedeva I.I.
Krasnoyarsk State Medical University named after prof. V.F. Voyno-Yasenetsky of the Ministry of Healthcare of Russia
The aim of this work was to study the relationship of Wolf–Parkinson–White syndrome (WPW) with signs of connective tissue dysplasia (CTD) and gene polymorphism of endothelial NO synthase type 3 (NOS3), for making a clinical and genetic prognosis and, as consequence, primary prevention of the manifestation of cardiac arrhythmias.
Material and methods. 72 patients with ECG signs of syndrome WPW were examined. The control group of the genetic part of the study included 158 people without any cardiovascular disease, having genetic data on the gene NOS3. The control group of signs of CTD amounted to 278 people without any cardiovascular disease and examined for such signs of connective tissue dysplasia. The patients underwent a standard cardiology examination, examination for signs of connective tissue dysplasia, and blood sampling for molecular genetic DNA testing.
Results. In our study it was found, that patients with WPW syndrome are characterized by some signs of CDT. Women are characterized by: hallux valgus and the third type of earlobe (p <0,001) and men: hallux valgus (p=0,004), the third type of earlobe, malocclusion, longitudinal flatfoot and MVP (p <0,001). It was established, that genotype 4a\4a and the 4a allele of the NOS3 gene in women is a predictor of the development of symptoms of the syndrome WPW (p=0,023). The 4b allele of the NOS3 gene in women is «protective» in the development of symptoms of WPW syndrome (p=0,05). Direct correlation was found between genotype 4a\4a of the NOS3 gene and such signs of CDT as: the third type of earlobe and mitral valve prolapse. In addition, we used the method of constructing neural networks: the percentage of correct predictions for the absence of WPW syndrome was 89,7%, and for its presence – 74,3%. The total percentage of correct predictions is 92.1%.
Conclusion. The obtained data can be used in practical medicine for the timely detection of WPW syndrome, revealing the characteristic signs of dysplasia upon examination of the patient and the characteristic genotypes during genetic analysis. To clarify the full range of clinical and genetic predictors of WPW syndrome it is necessary to expand the range of studied signs and genes.
Material and methods. 72 patients with ECG signs of syndrome WPW were examined. The control group of the genetic part of the study included 158 people without any cardiovascular disease, having genetic data on the gene NOS3. The control group of signs of CTD amounted to 278 people without any cardiovascular disease and examined for such signs of connective tissue dysplasia. The patients underwent a standard cardiology examination, examination for signs of connective tissue dysplasia, and blood sampling for molecular genetic DNA testing.
Results. In our study it was found, that patients with WPW syndrome are characterized by some signs of CDT. Women are characterized by: hallux valgus and the third type of earlobe (p <0,001) and men: hallux valgus (p=0,004), the third type of earlobe, malocclusion, longitudinal flatfoot and MVP (p <0,001). It was established, that genotype 4a\4a and the 4a allele of the NOS3 gene in women is a predictor of the development of symptoms of the syndrome WPW (p=0,023). The 4b allele of the NOS3 gene in women is «protective» in the development of symptoms of WPW syndrome (p=0,05). Direct correlation was found between genotype 4a\4a of the NOS3 gene and such signs of CDT as: the third type of earlobe and mitral valve prolapse. In addition, we used the method of constructing neural networks: the percentage of correct predictions for the absence of WPW syndrome was 89,7%, and for its presence – 74,3%. The total percentage of correct predictions is 92.1%.
Conclusion. The obtained data can be used in practical medicine for the timely detection of WPW syndrome, revealing the characteristic signs of dysplasia upon examination of the patient and the characteristic genotypes during genetic analysis. To clarify the full range of clinical and genetic predictors of WPW syndrome it is necessary to expand the range of studied signs and genes.
Keywords: longitudinal flatfoot, malocclusion, third type of earlobe, NOS3 gene, Wolf–Parkinson–White syndrome, hallux valgus, connective tissue dysplasia, mitral valve prolapse
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About the Autors
Anna A. Chernova, MD, associate professor of the Department of internal diseases No. 1 of Krasnoyarsk State Medical University named after prof. V.F. Voyno-Yasenetsky of the Ministry of Healthcare of Russia. Address: 660022, г Krasnoyarsk, 1 Partizana Zheleznyaka Str. Tel.: +7 (908) 221-56-96. Е-mail: anechkachernova@yandex.ru
Svetlana Yu. Nikulina, MD, professor, head of the Department of internal diseases No. 1 of Krasnoyarsk State Medical University named after prof. V.F. Voyno-Yasenetsky of the Ministry of Healthcare of Russia. Address: 660022, г Krasnoyarsk, 1 Partizana Zheleznyaka Str. Tel.: +7 (908) 212-53-79. Е-mail: nicoulina@mail.ru
Gennady V. Matyushin, д MD, professor, head of the Department of cardiology and functional diagnostics of Institute of vocational education of Krasnoyarsk State Medical University named after prof. V.F. Voyno-Yasenetsky of the Ministry of Healthcare of Russia. Address: 660022, г Krasnoyarsk, 1 Partizana Zheleznyaka Str. Tel.: +7 (908) 212-61-57. Е-mail: matyushin1@yandex.ru
Ilona I. Lebedeva, postgraduate student of the Department of internal diseases No. 1 of Krasnoyarsk State Medical University named after prof. V.F. Voyno-Yasenetsky of the Ministry of Healthcare of Russia. Address: 660022, г Krasnoyarsk, 1 Partizana Zheleznyaka Str. Tel.: 8 (902) 942-14-38. Е-mail: mii87@mail.ru
Svetlana Yu. Nikulina, MD, professor, head of the Department of internal diseases No. 1 of Krasnoyarsk State Medical University named after prof. V.F. Voyno-Yasenetsky of the Ministry of Healthcare of Russia. Address: 660022, г Krasnoyarsk, 1 Partizana Zheleznyaka Str. Tel.: +7 (908) 212-53-79. Е-mail: nicoulina@mail.ru
Gennady V. Matyushin, д MD, professor, head of the Department of cardiology and functional diagnostics of Institute of vocational education of Krasnoyarsk State Medical University named after prof. V.F. Voyno-Yasenetsky of the Ministry of Healthcare of Russia. Address: 660022, г Krasnoyarsk, 1 Partizana Zheleznyaka Str. Tel.: +7 (908) 212-61-57. Е-mail: matyushin1@yandex.ru
Ilona I. Lebedeva, postgraduate student of the Department of internal diseases No. 1 of Krasnoyarsk State Medical University named after prof. V.F. Voyno-Yasenetsky of the Ministry of Healthcare of Russia. Address: 660022, г Krasnoyarsk, 1 Partizana Zheleznyaka Str. Tel.: 8 (902) 942-14-38. Е-mail: mii87@mail.ru
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