Major Scope

  •  Cardiovascular Case Reports
  •  Oncology Case Reports
  •  Surgical Case Reports
  •  Gastroenterological Case Reports
  •  Neurological Case Reports
  •  Dermatological Case Reports
  •  Respiratory Case Reports
  •  Obstetrics/Gynecology Case Reports
  •  Nephrology Case Reports
  •  Immunology Case Reports
  •  Paediatric Case Reports
  •  Orthopedics Case Reports
  •  Dental Case Reports

Abstract

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

Abstract:

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.

Keywords:

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..

Journal Basic Info

  • Impact Factor: 5.253*
  • H-Index: 6
  • ISSN: 2474-1655
  • DOI: 10.25107/2474-1655
  • PubMed NLM ID: 101702800

Search Our Journal

Journal Indexed In

Articles in PubMed

Tocotrienols: Exciting Biological and Pharmacological Properties of Tocotrienols and other Naturally Occurring Compounds, Part I
 PubMed  PMC  PDF  Full Text
A New Minimally Invasive Procedure for Muscle, Back, Neck Pain and Radiculopathy - The Myofascial Nerve Block
 PubMed  PMC  PDF  Full Text
View More...

Articles with Grants

Clinical Evidence for the Use of Methylone in the Treatment of PTSD: A Case Series with Long-Term Follow- Up
 Abstract  PDF  Full Text
A Deletion of SGCE Gene in a Chinese Family with Myoclonus-Dystonia Syndrome
 Abstract  PDF  Full Text
View More...