engleski

Role of inherited prothrombotic risk factors in mothers and infants with perinatal stroke

The pathophysiology of perinatal stroke is complex and in many cases seems to be multifactorial. Although recent studies have identified a growing number of different risk factors, the cause of perinatal stroke is still incompletely understood. However, there is increasing evidence that inherited or acquired prothrombotic disorders may be implicated in the pathogenesis of perinatal stroke. Besides, some investigators have emphasized that maternal and possibly fetal thrombophilia may contribute to the development of perinatal stroke. We investigated the prevalence of genetic polymorphisms: factor V G1691A [FVL], factor II G20210A [PT] and methylenetetrahydrofolate reductase C677T [MTHFR] in 20 infants with perinatal stroke and their mothers in order to assess the role of inherited prothrombotic risk factors in the pathogenesis of perinatal stroke. At least one prothrombotic risk factor was found in 7 out of 20 pairs (35%) in mother, infant or both. The same risk factor (heterozygosity for FVL) was found in 2 pairs, both in mother and infant, while discordant risk factors were present in the remaining 5 pairs. Homozygosity for MTHFR was found in 4 infants while all mothers of affeccted infants were heterozygous for the same mutation. In contrast, heterozygosity for PT was found in one mother, but not in the infant. This study showed a relatively high frequency of investigated genetic prothrombotic risk factors, which was twice more prevalent in infants than in their mothers. Our results suggest that prothrombotic risk factors either in infants or in their mothers seem to play an important role in the athogenesis of perinatal stroke.

perinatal stroke; prothrombotic risk factors

nije evidentirano