The ‘virtual’ genetic heart disease clinic - a model for emerging services

Abstract

high-risk group and none in the low risk group (p = 0.0005). Familial disease was more common in the low-risk (85%) than in the high-risk group (37%), but a higher proportion of genotyped individuals had positive findings in the high-risk (81%) than in the low-risk group (67%). MYH7 mutations were more common than MYBPC3 (29% versus 19%) in the high-risk group, whereas in the low-risk group MYBPC was predominant (33%). Additional genes affected in the highrisk group were ACTC, MYL, MYPN, LAMP2, RAF 1 and PTNP11. Conclusions: The simple inexpensive ECG risk score effectively pinpoints high-risk individuals who require urgent full risk assessment, and where the yield of genetic testing is particularly high.