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A new nucleotide variant in the ELAC2 gene in a young child with a ventricular hypertrophy
L. A. Gandaeva,
E. N. Basargina,
O. B. Kondakova,
V. G. Kaverina,
A. A. Pushkov,
O. P. Zharova,
P. P. Fisenko,
K. V. Savostyanov https://doi.org/10.21508/1027-4065-2022-67-4-120-126
Abstract
The few foreign papers of the last decade have shown the relationship of various pathogenic variants of the ELAC2 gene to heterogeneous phenotypic manifestations, for which the unfavorable prognosis is common, caused by severe cardiomyopathy in the first year of life. The article presents the first clinical observation of a rare variant of the hypertrophic phenotype cardiomyopathy with a fatal outcome in the first year of life, and variants c.887T>C, p.L296P and c.1979A>T, p.K660I of the ELAC2 gene in Russia.
The purpose of the work is to present clinical observation of a child with an early manifestation of a hypertrophic phenotype of cardiomyopathy caused by pathogenic variants of the ELAC2 gene.
About the Authors
L. A. Gandaeva
National Medical Research Center for Children’s Health
Russian Federation
Russian Federation
Moscow
E. N. Basargina
National Medical Research Center for Children’s Health;
Filatov Clinical Institute of Children’s Health at the Sechenov First Moscow State Medical University (Sechenov University)
Russian Federation
Russian Federation
Moscow
O. B. Kondakova
National Medical Research Center for Children’s Health
Russian Federation
Russian Federation
Moscow
V. G. Kaverina
National Medical Research Center for Children’s Health
Russian Federation
Russian Federation
Moscow
A. A. Pushkov
National Medical Research Center for Children’s Health
Russian Federation
Russian Federation
Moscow
O. P. Zharova
National Medical Research Center for Children’s Health
Russian Federation
Russian Federation
Moscow
P. P. Fisenko
National Medical Research Center for Children’s Health
Russian Federation
Russian Federation
Moscow
K. V. Savostyanov
National Medical Research Center for Children’s Health
Russian Federation
Russian Federation
Moscow
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For citations:
Gandaeva L.A., Basargina E.N., Kondakova O.B., Kaverina V.G., Pushkov A.A., Zharova O.P., Fisenko P.P., Savostyanov K.V. A new nucleotide variant in the ELAC2 gene in a young child with a ventricular hypertrophy. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2022;67(4):120-126. (In Russ.) https://doi.org/10.21508/1027-4065-2022-67-4-120-126
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