Kexin Wang1, Tao Sun2, Xiaoping Zhang3, Hai Gao1* and Xiaoyan Li3*
1Department of Emergency, Beijing Anzhen Hospital, China 2Department of Cardiology, Beijing Anzhen Hospital, China 3Department of Lung & Blood Vessel Disease, Beijing Institute of Heart, ChinaFulltext PDF
Familial Hypercholesterolemia (FH) is one of the most common autosomal codominant diseases. Patients with FH have elevated Low-Density Lipid Cholesterol (LDL-C) levels which lead to cardiovascular complications at an early age and a reduced life expectancy. Low-Density Lipoprotein Receptor (LDLR) gene mutation is the most common genetic cause of FH. In this study, a 56-yearold female with definite FH was reported based on clinical algorithms. Whole exome sequencing identified a heterozygous LDLR mutation (c.1599G>A), which is pathogenic according to ACMG guidelines. Sanger sequencing was performed in family members, and the mutation site was cosegregated with the disease in the family.
Familial hypercholesterolemia; Cascade screening; Whole exome sequencing
Wang K, Sun T, Zhang X, Gao H, Li X. Familial Hypercholesterolemia with Cardiovascular Disease: A Case Report. Ann Clin Case Rep. 2021; 6: 1954..