West Virginia has widespread cardiovascular disease (CVD), which may be associated with ancestry and shared familial environments, including dietary, physical activity, and tobacco use vulnerabilities. During 90,000 fifth graders in West Virginia have been assessed as part of the Coronary Artery Risk Detection in Appalachian Communities (CARDIAC) child risk factor screening program over the past 20 years. With the CARDIAC population, reverse cascade screening for familial hypercholesterolemia (FH) has proven challenging. With over 2 million entries, the WVU CTSI Integrated Data Repository (IDR) is a large repository. The finding of novel information to guide the management of CVD will be made possible by linking kid CARDIAC data to parent IDR data.

To locate the parents of CARDIAC participants, we employed Soundex transcoding of names and direct demographic data linking via Oracle. Within the VMWare SSL environment, data were evaluated.

A parent or parents have been found for 4,759 kids. IDR has measured the LDL levels of 959 mothers and 524 dads. From CARDIAC, race, BMI, and gender were reported. With an abnormal LDL level >130 mg/dl in IDR, 6.8% of children, 40% of mothers, and 44.8% of dads are affected. The abnormal kid lipid level (≥130 mg/dl) has a 17% positive predictive value for at least one abnormal parent (56/325). About 4.7% of couples, or 1 in 371 pairs, had LDL levels above 190 mg/dl with children above 160, suggesting the likelihood of FH in the family.

Virtual Reverse Cascade Screening can discover FH by creating a virtual cohort of CARDIAC kids and parents. To promote wellness and maybe prevent early coronary artery disease, this initiative emphasizes the significance of family propensity to hyperlipidemia, which can help detect early lipid abnormalities and cardiovascular risk in children and their young parents. As part of a Learning Health System where data management is at the forefront of healthcare reform; we are building a virtual longitudinal cohort to investigate CVD in West Virginia.


Reference: ahajournals.org/doi/10.1161/circ.137.suppl_1.p090