Family form of dilated cardiomyopathy

Cardiomyopathy (CMP) is classified into familial and non-familial, which reflects the need to study the genetic basis of the disease. The article describes a clinical case of a familial form of non-compact cardiomyopathy in combination with a dilated form of cardiomyopathy. The article provides data...

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Bibliographic Details
Main Authors: D. I. Sadykova, T. P. Makarova, D. R. Sabirova, N. N. Firsova, A. A. Kucheryavaya, N. V. Shakurova, A. R. Khasanova
Format: Article
Language:Russian
Published: Ltd. “The National Academy of Pediatric Science and Innovation” 2021-12-01
Series:Rossijskij Vestnik Perinatologii i Pediatrii
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Online Access:https://www.ped-perinatology.ru/jour/article/view/1505
Description
Summary:Cardiomyopathy (CMP) is classified into familial and non-familial, which reflects the need to study the genetic basis of the disease. The article describes a clinical case of a familial form of non-compact cardiomyopathy in combination with a dilated form of cardiomyopathy. The article provides data of echocardiographic and MRI studies. The diagnosis was confirmed by genetic research, there was revealed a mutation in the MYH7 gene p.IIe201Thr in a heterozygous state, which is associated with the development of non-compact cardiomyopathy and dilated form of cardiomyopathy.
ISSN:1027-4065
2500-2228