ABSTRACT
Cardiovascular disorders pose a large number of genetic counselling challenges. The conditions associated with congenital heart disease have been fairly well studied, although further information about some more recently recognised microdeletion syndromes remains to be gathered. Congenital heart disease is a large group of disorders for which advice is sought, usually regarding the risks for further affected children and the likely impact of the underlying condition on the quality of the child's life and now, increasingly, concerning the risk to offspring of a successfully treated patient. A thorough study from Toronto found a recurrence risk of 3.8% in sibs, rather higher than expected from the incidence of the disorder. The characteristic facies with ptosis and low-set ears, as well as a different cardiac defect from that of Turner syndrome, should allow clinical recognition of this relatively common disorder in either sex.
