HYPERTROPHIC CARDIOMYOPATHY IN TEENAGER WITH LEOPARD SYNDROME (CLINICAL CASE)
Marianna V. Kulavskaya,
Ilmir F. Shabaev,
Alexandra A. Rumyantseva,
Aleksey V. Evtushenko,
Irina N. Mamchur,
Alexander V. Bogachev-Prokophiev https://doi.org/10.17802/2306-1278-2024-13-4S-267-275
Abstract
Highlights
This review describes a rare clinical case of hypertrophic cardiomyopathy in a teenager with LEOPARD syndrome.
Abstract
Hypertrophic cardiomyopathy (HCM) is a genetically determined cardiac disease which can be caused by nearly 1500 genetic mutations, encoding proteins of the cardiac sarcomere and some non-sacromeric proteins. There is a number of hereditary metabolic disorders and diseases which can imitate phenotype and clinical picture of HCM. Abnormalities with systemic symptoms are usually identified as a syndrome, including hypertrophic myocardium signs. Such abnormalities are regarded to the RASopathies, a group of phenotypically similar genetic syndromes. Nowadays RASopathies include 1-type neurofibromatosis, Noonan syndrome, LEOPARD syndrome, Costello syndrome, Legius syndrome, cardiofaciocutaneous syndrome, and capillary malformation-arteriovenous malformation syndrome.
About the Authors
Marianna V. Kulavskaya
Federal State Budgetary Institution “Research Institute for Complex Issues of Cardiovascular Diseases”
Russian Federation
Russian Federation
Pediatric Cardiologist at the Department of Cardiac Surgery No.2, Federal State Budgetary Institution “Research Institute for Complex Issues of Cardiovascular Diseases”, Kemerovo, Russian Federation
Ilmir F. Shabaev
Federal State Budgetary Institution “Research Institute for Complex Issues of Cardiovascular Diseases”
Russian Federation
Russian Federation
PhD, Cardiovascular Surgeon at the Department of Cardiac Surgery No. 2, Senior Lecturer at the Department of Science and Education, Junior Researcher at the Laboratory of Organoprotection in Children with Congenital Heart Defects, Federal State Budgetary Institution “Research Institute for Complex Issues of Cardiovascular Diseases”, Kemerovo, Russian Federation
Alexandra A. Rumyantseva
Federal State Budgetary Institution “Research Institute for Complex Issues of Cardiovascular Diseases”
Russian Federation
Russian Federation
PhD, Senior Researcher at the Laboratory of Organoprotection in Children with Congenital Heart Defects, Federal State Budgetary Institution “Research Institute for Complex Issues of Cardiovascular Diseases”, Kemerovo, Russian Federation
Aleksey V. Evtushenko
Federal State Budgetary Institution “Research Institute for Complex Issues of Cardiovascular Diseases”
Russian Federation
Russian Federation
PhD, Cardiovascular Surgeon, Head of the Laboratory of Valvular Heart Disease, Department of Heart and Vessel Surgery, Federal State Budgetary Institution “Research Institute for Complex Issues of Cardiovascular Diseases”, Kemerovo, Russian Federation
Irina N. Mamchur
Federal State Budgetary Institution “Research Institute for Complex Issues of Cardiovascular Diseases”
Russian Federation
Russian Federation
PhD, Ultrasound Specialist, Federal State Budgetary Institution “Research Institute for Complex Issues of Cardiovascular Diseases”, Kemerovo, Russian Federation
Alexander V. Bogachev-Prokophiev
Federal State Budgetary Institution “National Medical Research Center named after academician E.N. Meshalkin” of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
PhD, Head of the Center for New Surgical Technologies, Federal State Budgetary Institution “National Medical Research Center named after academician E.N. Meshalkin” of the Ministry of Health of the Russian Federation, Novosibirsk, Russian Federation
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Supplementary files
Review
For citations:
Kulavskaya M.V., Shabaev I.F., Rumyantseva A.A., Evtushenko A.V., Mamchur I.N., Bogachev-Prokophiev A.V. HYPERTROPHIC CARDIOMYOPATHY IN TEENAGER WITH LEOPARD SYNDROME (CLINICAL CASE). Complex Issues of Cardiovascular Diseases. 2024;13(4S):267-275. (In Russ.) https://doi.org/10.17802/2306-1278-2024-13-4S-267-275
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