Role of Thrombophilic Mutations in Childhood Cardiac and Great Vessel Thrombosis

Baris Malbora, Namik Ozbek, Zekai Avci, Hasibe Verdi, Bulent Alioglu, Birgul Varan, Fatma Belgin Atac
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Objective: This study was conducted to analyze the thrombophilic mutations of children with cardiac and great vessel thrombosis diagnosed in our hospital and investigate the risk factors.Methods: The clinical and laboratory findings of 41 children having cardiac and/or great vessel thrombosis between 1997 and 2009 were retrospectively analyzed. Results: All patients with cardiac thrombosis had an underlying associated clinical condition. The frequency of cardiac thrombosis was highest in children older than one year. Patients with congenital heart disease were the largest group (53.7%). Acquired risk factors were identified in 32 of the 41 patients. There was a significant relationship between right atrial thrombosis and wearing a central venous catheter, between right atrial thrombosis and systemic infection, between right ventricle thrombosis and angiographic procedure, and between right ventricle thrombosis and systemic infection. 33 of 41 patients (80.5%) who were examined had at least one thrombophilic mutation. Conclusion: Our study implies not only the underlying disorders   but the factor V Leiden and prothrombin G20210A mutations are the important predisposing molecular risk factors for cardiac thrombosis.  


Children, congenital heart disease, cardiac thrombosis, great vessel thrombosis, thrombophilic mutations

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