Journal Basic Info

  • Impact Factor: 1.809**
  • H-Index: 6
  • ISSN: 2474-1655
  • DOI: 10.25107/2474-1655
**Impact Factor calculated based on Google Scholar Citations. Please contact us for any more details.

Major Scope

  •  Endoscopy
  •  Sexual Health
  •  Oncology Cases
  •  Cardiac Surgery
  •  Infectious Disease
  •  Sports Medicine
  •  Diabetology
  •  Women’s Health Care


Citation: Ann Clin Case Rep. 2021;6(1):1954.DOI: 10.25107/2474-1655.1954

Familial Hypercholesterolemia with Cardiovascular Disease: A Case Report

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

*Correspondance to: Xiaoyan Li 

 PDF  Full Text Case Report | Open Access


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..

Search Our Journal

Journal Indexed In

Articles in PubMed

Does Autoimmunity have a Role in Myoclonic Astatic Epilepsy? A Case Report of Voltage Gated Potassium Channel Mediated Seizures
 PubMed  PMC  PDF  Full Text
Tocotrienols: Exciting Biological and Pharmacological Properties of Tocotrienols and Naturally Occurring Compounds, Part II
 PubMed  PMC  PDF  Full Text
View More...

Articles with Grants

The Effect of Extremely Low-Frequency Electromagnetic Radiation on Pregnancy Outcome: A Meta-Analysis
 Abstract  PDF  Full Text
Polymorphous Low-Grade Adenocarcinoma in the Nasopharynx: A Case Study and Review of the Literature
 Abstract  PDF  Full Text
View More...