Sudden death in a 4-year-old boy: a near-complete occlusion of the coronary artery caused by an aggressive low-density lipoprotein receptor mutation (W556R) in homozygous familial hypercholesterolemia

J Pediatr. 2011 Jan;158(1):167. doi: 10.1016/j.jpeds.2010.06.027. Epub 2010 Jul 24.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Coronary Occlusion / genetics*
  • Death, Sudden / etiology*
  • Homozygote
  • Humans
  • Hypercholesterolemia / genetics*
  • Male
  • Mutation*
  • Receptors, LDL / genetics*

Substances

  • Receptors, LDL