Cardiovascular involvement in a large cohort of Argentinean Fabry patients. Correlation with cardiovascular risk factors

Abstract

Familial long QT syndrome (LQTS) is the most common primary arrhythmogenic disorder. The clinical diagnosis of LQTS can be difficult, and genotype plays a vital role in early disease identification.Wesought toassess factors that impacton communication of genetic results, uptake and access to testing. Participants were recruited from the Australian Genetic Heart Disease (AGHD) Registry and the Genetic Heart Disease Clinic, RPA Hospital Sydney. Sociodemographic, clinical, genetic and family history data was obtained via the AGHD Registry. A survey including the Hospital Anxiety and Depression Scale (HADS), Intolerance of Uncertainty Scale (IOU) and a number of short and open-ended questions about communication was sent to participants. Fifty-eight participants have so far been approached with 45 (78%) surveys returned. Of thosewith a genetic result, 91% self reported all first degree relatives were informed. Probands reported ‘feeling obligated’ (78%) and that ‘knowledge results could help relatives’ (84%), played a large role in the decision to share. Ninety percent reported thinking a result would ‘help relatives make healthcare decisions’ made sharing easier. Probands with a pathogenic result were less likely to be satisfied with their understanding of LQTS (78% versus 30%, p = 0.037). Other factors such as family history of sudden cardiac death and sociodemographic characteristics showed interesting trends, but small sample size has limited the power of these analyses. Data collection is ongoing. Preliminary results suggest communication of genetic results is good in Australian LQTS families, and this research may help to inform pre and post-test genetic counselling.