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Diagnostics of combined hereditary cardiovascular pathology in a teenager
D. I. Sadykova,
O. S. Groznova,
G. V. Pirogova,
E. S. Slastnikova,
L. F. Galimova,
N. N. Firsova,
A. A. Kucheriavaia,
Ch. D. Khaliullina https://doi.org/10.21508/1027-4065-2023-68-5-95-101
Abstract
Dilated cardiomyopathy is one of the leading causes of heart failure in children with a variety of clinical characteristics. A 12-year-old patient with dilated cardiomyopathy and heterozygous familial hypercholesterolemia, who underwent surgical treatment for implantation of the Abbott HeartMate III Left Ventricular Assist Device as a bridge to donor heart transplantation, is presented. Establishing an accurate diagnosis in the presented observation became possible thanks to the use of a modern molecular genetic method — whole genome DNA testing by next generation sequencing (NGS). The description of this case will help expand the range of possible clinical manifestations of dilated cardiomyopathy and reminds us of the importance of dynamic monitoring of children with cardiac arrhythmias.
Keywords
children,
dilated cardiomyopathy,
familial hypercholesterolemia,
genome sequencing,
mechanical circulatory support
Supporting agencies: The study was supported by a grant from the International scientific council for young scientists of the Kazan State Medical University 2023.
About the Authors
D. I. Sadykova
Kazan State Medical University;
Kazan (Volga Region) Federal University
Russian Federation
Russian Federation
Kazan
O. S. Groznova
Pirogov Russian National Research Medical University;
Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University;
Charity Fund for medical and social genetic aid projects “Life Genome”
Russian Federation
Russian Federation
Moscow
G. V. Pirogova
Omsk Central District Hospital
Russian Federation
Russian Federation
Omsk
E. S. Slastnikova
Kazan State Medical University;
Children’s Republican Clinical Hospital
Russian Federation
Russian Federation
Kazan
L. F. Galimova
Kazan State Medical University;
Charity Fund for medical and social genetic aid projects “Life Genome”;
Children’s Republican Clinical Hospital
Russian Federation
Russian Federation
Kazan;
Moscow
N. N. Firsova
Children’s Republican Clinical Hospital
Russian Federation
Russian Federation
Kazan
A. A. Kucheriavaia
Children’s Republican Clinical Hospital
Russian Federation
Russian Federation
Kazan
Ch. D. Khaliullina
Kazan State Medical University
Russian Federation
Russian Federation
Kazan
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Review
For citations:
Sadykova D.I., Groznova O.S., Pirogova G.V., Slastnikova E.S., Galimova L.F., Firsova N.N., Kucheriavaia A.A., Khaliullina Ch.D. Diagnostics of combined hereditary cardiovascular pathology in a teenager. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2023;68(5):95-101. (In Russ.) https://doi.org/10.21508/1027-4065-2023-68-5-95-101
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