Abstract / Description: 

Familial hypercholesterolemia (FH) is the most common inherited cardiovascular disease and carries significant morbidity and mortality risks. Genetic testing can identify affected individuals, but some array-based assays screen only a small subset of known pathogenic variants.

Collection: 
eCardio Hub Collection
Category: 
General CV
Date: 
2021
Author: 
Amy C. Sturm, MS; Rebecca Truty, PhD; Thomas E. Callis, PhD; Sienna Aguilar, MS; Edward D. Esplin, MD, PhD; Sarah Garcia, MS, PhD; Eden V. Haverfield, DPhil; Ana Morales, MS; Robert L. Nussbaum, MD; Susan Rojahn, PhD; Matteo Vatta, PhD; Daniel J. Rader, MD