Thrombosis of the inferior vena cava and right atrium in a neonate with thrombophilia: diagnosis, treatment, result

Abstract

Hereditary thrombophilia is rare pathology giving rise to a ninefold increase in the risk for the development of thromboembolism in infants. The problem is multifactorial and characterized by high mortality, especially in neonates. Infants who develop thrombosis, particularly those with no family history, are often subjected to testing for hereditary thrombophilia. However, genetic testing for thrombophilia does not change the plan of treatment but makes it possible to perform prevention of thrombosis within the risk periods for the patient. Poor awareness of paediatricians, the complexity of carrying out genetic testing, the absence of approaches supported by evidence-based medicine due to shortage of high-quality clinical trials and no guidelines on prevention of thromboembolism in infants, as well as the frequent occurrence of diversified causes and diseases in different age groups make the problem significant for modern medicine. Further studies are needed to address many unanswered as yet questions.