Clinical polymorphism of RASopathies in terms of the children's cardiology department


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Abstract

The article presents 7 clinical cases of RASopathies, including 2 fatal, which has manifested by hypertrophic cardiomyopathy of varying severity (n=6) and noncompaction myocardium (n=1) in pre- and postnatal periods observed in the V.A.Almazov NMRC. Cardiomyopathy was the dominant symptom in all cases. LEOPARD syndrome was diagnosed in 2 patients clinically, facial dysmorphism were also in two patients. Execution targeted sequencing of the new generation on the target panel 108 genes associated with the development of congenital diseases of the myocardium, cardiomyopathies, and kanalopathy, followed by sequencing by Sanger, allowed to detect various mutations in the genes PTPN11, BRAF, CBL in patients.

About the authors

O. V Melnik

V.A.Almazov National Medical Research Centre

Email: orangelove@yandex.ru
канд. мед. наук, науч. сотр. научно-исследовательской лаб. хирургии врожденной и наследственной патологии 197341, Russian Federation, Saint Petersburg, ul. Akkuratova, d. 2

A. Y Gudkova

V.A.Almazov National Medical Research Centre; I.P.Pavlov First Saint Petersburg State Medical University of the Ministry of Health of the Russian Federation

Email: alexagood-1954@mail.ru
д-р мед. наук, проф. каф. факультетской терапии, зав. лаб. кардиомиопатий Института сердечно-сосудистых заболеваний, вед. науч. сотр. Института молекулярной биологии и генетики 197341, Russian Federation, Saint Petersburg, ul. Akkuratova, d. 2

T. L Vershinina

V.A.Almazov National Medical Research Centre

Email: Vershinina_TL@almazovcentre.ru
канд. мед. наук, зав. отд-нием детской кардиологии и медицинской реабилитации 197341, Russian Federation, Saint Petersburg, ul. Akkuratova, d. 2

I. L Nikitina

V.A.Almazov National Medical Research Centre

Email: Nikitina_IL@almazovcentre.ru
д-р мед. наук, зав. научно-исследовательской лаб. детской эндокринологии 197341, Russian Federation, Saint Petersburg, ul. Akkuratova, d. 2

A. A Kostareva

V.A.Almazov National Medical Research Centre

Email: akostareva@hotmail.com
канд. мед. наук, дир. Института молекулярной биологии и генетики 197341, Russian Federation, Saint Petersburg, ul. Akkuratova, d. 2

T. M Pervunina

V.A.Almazov National Medical Research Centre

Email: ptm.pervunina@yandex.ru
канд. мед. наук, дир. Института перинатологии и педиатрии 197341, Russian Federation, Saint Petersburg, ul. Akkuratova, d. 2

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