HYPERTROPHIC CARDIOMYOPATHY IN TEENAGER WITH LEOPARD SYNDROME (CLINICAL CASE)

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.