Journal Basic Info
- Impact Factor: 1.809**
- H-Index: 6
- ISSN: 2474-1655
- DOI: 10.25107/2474-1655
- Forensic and Legal Medicine
- Orthopedics & Rheumatology
- Family Medicine and Public Health
- Cardiac Surgery
Citation: Ann Clin Case Rep. 2021;6(1):1954.DOI: 10.25107/2474-1655.1954
Kexin Wang, Tao Sun, Xiaoping Zhang, Hai Gao and Xiaoyan Li
Department of Emergency, Beijing Anzhen Hospital, China Department of Cardiology, Beijing Anzhen Hospital, China Department of Lung & Blood Vessel Disease, Beijing Institute of Heart, China
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
Cite the Article:
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..