Acute myocardial infarction and a new ABCC6 mutation in a 16-year-old boy with pseudoxanthoma elasticum

Int J Cardiol. 2007 Mar 20;116(2):261-2. doi: 10.1016/j.ijcard.2006.02.022. Epub 2006 Jul 18.


Pseudoxanthoma elasticum is caused by mutations of the ABCC6 gene. We hereby report a case of pseudoxanthoma elasticum with clinical features dominated by early coronary involvement in addition to typical skin and ocular abnormalities. A 16-year-old survivor of acute myocardial infarction with 3-vessel coronary artery disease exhibited compound heterozygosity for the well-known nonsense mutation (c.3421C>T; R1141X) in exon 24 and a novel missense mutation (c.3662G>A; R1221H) in exon 26 of the ABCC6 gene.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Humans
  • Male
  • Multidrug Resistance-Associated Proteins / genetics*
  • Mutation*
  • Myocardial Infarction / etiology*
  • Pseudoxanthoma Elasticum / complications*
  • Pseudoxanthoma Elasticum / genetics*


  • ABCC6 protein, human
  • Multidrug Resistance-Associated Proteins