The combination of left ventricular non-compaction and hypertrophic cardiomyopathy in one family with a pathogenic variant in the MYBPC3 gene (rs397516037)

The combination of left ventricular non-compaction and hypertrophic cardiomyopathy in one family with a pathogenic variant in the MYBPC3 gene (rs397516037)

The article presents the results of clinical, instrumental and molecular genetic tests of three generations of a family with inherited cardiomyopathy caused by a new variant in the MYBPC3 gene. A specific feature of this case is the phenotypic heterogeneity of the mutation — a combination of hypertr...

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Main Authors: R. P. Myasnikov, A. V. Kulikova, A. N. Meshkov, E. A. Mershina, A. V. Kiseleva, M. V. Klimushina, M. G. Divashuk, O. V. Kurilova, P. S. Pilyus, M. S. Kharlap, S. N. Koretsky, O. M. Larina, V. E. Sinitsyn, L. A. Gandaeva, V. I. Barsky, E. N. Basargina, S. A. Boytsov, O. M. Drapkina
Format: Article
Language:Russian
Published: «FIRMA «SILICEA» LLC 2020-11-01
Series:Российский кардиологический журнал
Subjects:
left ventricular non-compaction
hypertrophic cardiomyopathy
heart failure
sudden cardiac death
family forms
thromboembolism
acute cerebrovascular accident
mybpc3
Online Access:https://russjcardiol.elpub.ru/jour/article/view/4115
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