A.A. GARANIN, A.O. RUBANENKO, O.A. RUBANENKO, A.N. KOVALSKAYA, E.M. VOLKOVA

Samara State Medical University of the Ministry of Health of the Russian Federation, Samara

Contact details:

Garanin A.A. –  PhD (medicine), Assistant of the Department of Propedeutic Therapy.

Address: 89 Chapaevskaya St., Samara, Russian Federation, 443099, tel. +7 (927) 299-31-62, e-mail: sameagle@yandex.ru.

The work objective is the need to update and expand the ideas about orphan disorders of rhythm and conduction, which have an eponymous name. And, despite the fact that the term “orphan” is synonymous with the word “rare”, the frequency of diseases classified in this category and presented in the article is steadily increasing. Material and methods. The article contains a description of 9 orphan rhythm and conduction disorders that have an eponymous history and manifest clinically, in most cases, in childhood and adolescence. The codes for the ICD-10 (the 10th revision of the International Statistical Classification of Diseases and Related Health Problems) and OMIM (Online Mendelian Inheritance in Man – the Internet version of the Mendelian Inheritance in Man database) are given for each nosological form. The diseases are arranged in alphabetical order according to their name.

Results. A brief description of diseases, historical background, providing information about who and under what circumstances formed this eponymic term, is given. Current data on epidemiology and etiology, pathogenesis and clinical manifestations of each syndrome are presented in a concise way. From the standpoint of modern evidence-based medicine, issues of diagnosis, differential diagnosis and treatment of hereditary rhythm and conduction disorders, as well as their prognosis, are considered.

 Key words: rhythm and conduction disorders, eponymic syndromes, orphan diseases.

(For citation: Garanin A.A., Rubanenko A.O., Rubanenko O.A., Kovalskaya A.N., Volkova E.M. Orphan rhythm and conduction disorders with an eponymous history. Practical Medicine. 2019, Vol. 17, № 5, P. 43-50)

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