27 Utilisation of Genetic Testing in an Adult Congenital Heart Disease Clinic

Introduction A significant proportion of adults with congenital heart disease (CHD) have an underlying genetic diagnosis which can have important medical, reproductive, and psychosocial implications for these patients. In view of advances in genetic diagnostics, current best practice guidelines (1) recommend genetic testing in adults with CHD and additional clinical features which increase the likelihood of an underlying genetic diagnosis. We sought to ascertain the utilisation of genetic testing in an adult congenital heart disease clinic. Methods We retrospectively reviewed the electronic clinic records of 102 consecutive patients attending the adult congenital heart disease clinic between March and June 2021. Data collection included the underlying congenital diagnosis and the presence or absence of anatomical or phenotypic features associated with increased genetic risk, in line with international recommendations for genetic testing in adult CHD: presence of a conotruncal abnormality (to include tetralogy of Fallot, ventricular septal defect with aortic arch anomaly, truncus arteriosus and interrupted aortic arch), recognisable extra-cardiac syndromic features, learning disability, developmental delay, psychiatric diagnosis, and family history of congenital heart disease. Results 102 electronic patient records were reviewed. The mean age was 37.5 years (SD = 14.0). The most common congenital diagnoses were atrial septal defect (n=15), tetralogy of Fallot (n=16), and coarctation of the aorta (n=10). 11 patients had a confirmed genetic diagnosis. 2 patients were identified as having phenotypic features of a genetic syndrome with referral for testing in place. 7 patients had developmental delay or learning disability without an established genetic diagnosis. In total 23/102 (22%) patients, who had not been tested, met criteria for genetic testing. Conclusion Genetic testing was underutilised in this cohort of patients. It is likely that a significant number of patients with an underlying genetic diagnosis are being missed, particularly as some syndromic diagnoses may have subtle features which may not be apparent on evaluation in clinic. Patients who would benefit from genetic testing need to be pro-actively identified in adult CHD clinics to ensure patients are optimally clinically managed and receive appropriate genetic and pre-conception counselling. References 1. De Backer J, Bondue A, Budts W, et al. Genetic counselling and testing in adults with congenital heart disease: a consensus document of the ESC Working group of grown-up congenital heart disease, the ESC Working group on aorta and peripheral vascular disease and the European Society of human genetics. Eur J Prev Cardiol 2019;2047487319854552. Conflict of Interest None