Val30Met-transthyrethin amyloid polyneuropathy and cardiomyopathy (review of literature and case report)


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Abstract

An overview of the literature on the problem of Val30Met-ATTR is presented. The clinical course of the late debut of Val30Met-TTR amyloid polyneuropathy and cardiomyopathy is described. Neuropathic and cardiomyopathic "masks" of transthyretin amyloidosis have been analyzed. Algorithms of diagnostics and bases of modern medical tactics for transthyretin (mt) amyloidosis are given.

About the authors

A. Ya Gudkova

I.P.Pavlov First Saint Petersburg State Medical University of the Ministry of Health of the Russian Federation; Almazov National Medical Research Centre 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 197022, Russian Federation, Saint Petersburg, ul. L'va Tolstogo, d. 6/8

A. V Amelin

I.P.Pavlov First Saint Petersburg State Medical University of the Ministry of Health of the Russian Federation

Email: avamelin@mail.ru
д-р мед. наук, проф. каф. неврологии с клиникой 197022, Russian Federation, Saint Petersburg, ul. L'va Tolstogo, d. 6/8

A. N Krutikov

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

Email: ankrutikov@yandex.ru
вед. науч. сотр. НИО инфильтративных заболеваний сердца Института молекулярной биологии и генетики 197022, Russian Federation, Saint Petersburg, ul. L'va Tolstogo, d. 6/8

A. A Poliakova

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

Email: lica.polyakova@mail.ru
ст. науч. сотр. НИО инфильтративных заболеваний сердца Института молекулярной биологии и генетики, мл. науч. сотр. лаб. кардиомиопатий Института сердечно-сосудистых заболеваний 197022, Russian Federation, Saint Petersburg, ul. L'va Tolstogo, d. 6/8

N. V Safyanova

I.P.Pavlov First Saint Petersburg State Medical University of the Ministry of Health of the Russian Federation

Email: nsafyanova@yandex.ru
врач-кардиолог Городской поликлиники №31 197022, Russian Federation, Saint Petersburg, ul. L'va Tolstogo, d. 6/8

M. M Shavlovskiy

Almazov National Medical Research Centre of the Ministry of Health of the Russian Federation; Institute of Experimental Medicine

Email: mmsch@rambler.ru
д-р мед. наук, проф. каф. медицинской генетики вед. науч. сотр. лаб. кардиомиопатий Института сердечно-сосудистых заболеваний 197376, Russian Federation, Saint Petersburg, ul. Akademika Pavlova, d. 12

K. A Khmelnitskaya

I.P.Pavlov First Saint Petersburg State Medical University of the Ministry of Health of the Russian Federation

канд. мед. наук, ст. науч. сотр. лаб. кардиомиопатий Института сердечно-сосудистых заболеваний 197022, Russian Federation, Saint Petersburg, ul. L'va Tolstogo, d. 6/8

D. E Korzhevsky

Institute of Experimental Medicine

д-р мед. наук, проф. РАН, зав. лаб. функциональной морфологии центральной и периферической нервной системы 197376, Russian Federation, Saint Petersburg, ul. Akademika Pavlova, d. 12

E. N Semernin

I.P.Pavlov First Saint Petersburg State Medical University of the Ministry of Health of the Russian Federation

Email: e.semernin@yandex.ru
канд. мед. наук, рук. отд. НИО инфильтративных заболеваний сердца Института молекулярной биологии и генетики 197022, Russian Federation, Saint Petersburg, ul. L'va Tolstogo, d. 6/8

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