Sequential Heart Murmurs in a 43-Year-Old Man with Congenital Heart Disease

Polygenic risk scores of endo-phenotypes identify the effect of genetic background in congenital heart disease

“… 57 , 58 For example, families with inherited forms of CHD demonstrate variable penetrance of clinical endo-phenotypes where structural and conduction abnormalities co-occur. 59 , 60 Some of these phenotypes were curated using ICD-10 codes, whereas others were gathered using an aggregation of self-reports and nurse reports. Use of self-reporting is well documented 54 , 55 , 56 , 61 and, like the endo-phenotype approach, allows us to systematically assess a large number of milder phenotypes.…”