Kazuistika členů rodiny s mnohočetným výskytem aortální disekce

Casuistry of the Family Members with Accumulation of Aortal Dissection

Aortal dissection belongs to the group of aortal diseases with a high mortality rate and varied clinical account. This disease does not appear very often and therefore it is often diagnosed late. Diagnostic and therapeutic developments have recently improved. Classification and indication criteria about prophylactic interventions on aorta have become more specific. It leads to the gradual decrease of mortality caused by this disease. Frequent accumulation of familiar aortal dissection was described. It can be important for the early identification of individuals at risk. In our casuistry we describe a family with the accumulation of aortal dissection coinciding with Marfan syndrome from the mother’s side and the prevalence of this disease in siblings from their patient’s father. The evident predisposition was not clearly demonstrated in these cases. We also examined and began to dispenser other members of the family but we did not find an evident predisposition factor. We would like to emphasize the importance of good interdisciplinary and institutional cooperation in diagnostic and treatment of this disease. Further we want to emphasize the contribution of careful sampling of familiar anamnesis in the cases stricken with the disease. We focused on sudden death. It is well known that the gene analysis may contribute to the identification of individuals at risk in these families. We do not have this possibility in our country now. 

Key words:
aortal dissection, Marfan syndrome, familial aortal dissection.