This consensus paper which is a result of the collaboration between our WG and the WG on ACHD aims to give healthcare professionals involved in the diagnosis and treatment of patients with congenital heart disease and hereditary forms of aortic disease a better insight into the possibilities and limitations of genetic research.
A central message consists of the recognition that genetic research includes genetic testing on the one hand, but that the aspect of genetic counseling on the other hand is at least as important.
A structural overview is given of the rationale of genetic research, including confirmation of a diagnosis, guidance of management, informing on long-term prognosis and recurrence risk and assessing genetic risk in family members.
Applied to the setting of hereditary aortic disease (HTAD), confirmation of a genetic entity is of particular importance in patients presenting sporadic and nonsyndromic forms of the disease. Gene panels are nowadays commonly used for this purpose and careful selection of the genes on these panels is mandatory. Increasing data also indicate that aortic outcome may vary according to the underlying gene or type of genetic variant. Management of aortic disease based on the underlying gene is therefor gaining more importance.
Integrating genetic counseling and testing in Aortopathy clinics is extremely useful to apply better and more precise medicine.