3/2007The genetic counseling in families with a child suffering from the isolated atrial septum defect type ostium secundum (ASD II)

JOANNA KWIATKOWSKA (Klinika Kardiologii Dziecięcej i Wad Wrodzonych Serca Akademii Medycznej w Gdańsku; Kierownik: prof. dr hab. med. Jan Ereciński)

Background
The isolated atrial septum defect type ostium secundum (ASD II) has a multifactorial mode of inheritance in most cases, and the recurrence risk rating from 2 to 6% is attributed to the first degree relatives of an affected child. In a subgroup of patients with a strong family history, the transmission of a monogenic trait has been suspected.

Material and methods
The analysis comprised 2000 patients. One hundred thirty families were selected. aaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaa aaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaa aaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaa aaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaa aaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaa aaaaaaaaaaaaa

Results
In 29 families ASD II was identified in an index case. Next, the pedigrees of the studied families were performed and cardiological diagnostic procedures were obtained in 110 members. In 42 of them (the proband being excluded) ASD II was diagnosed, in 5 a ventricular septal defect (VSD) co-existed with the ASD II and in one family congenital atrio-ventricular conduction disturbances were also identified.

Key words: isolated atrial septum defect, genetic counseling