Congenital Contractural Arachnodactyly without FBN1 or FBN2 Gene Mutations Complicated by Dilated Cardiomyopathy

Intern Med. 2015;54(10):1237-41. doi: 10.2169/internalmedicine.54.4280. Epub 2015 May 15.

Abstract

Congenital contractural arachnodactyly (CCA) is a rare connective tissue disorder characterized by marfanoid habitus with camptodactyly. However, cardiac features have rarely been documented in adults. We herein report a sporadic case of CCA in a 20-year-old woman who developed decompensated dilated cardiomyopathy. The patient did not have any mutations in the FBN1 or FBN2 genes, which are most commonly associated with Marfan syndrome and CCA, respectively. Although whether these two diseases are caused by a mutation(s) in the same gene or two different genes remains unknown, this case provides new clinical insight into the cardiovascular management of CCA.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Arachnodactyly / complications*
  • Arachnodactyly / genetics*
  • Cardiomyopathy, Dilated / complications*
  • Contracture / complications*
  • Contracture / genetics*
  • Female
  • Fibrillin-1
  • Fibrillin-2
  • Fibrillins
  • Humans
  • Marfan Syndrome / genetics
  • Microfilament Proteins / genetics*
  • Mutation
  • Young Adult

Substances

  • FBN1 protein, human
  • FBN2 protein, human
  • Fibrillin-1
  • Fibrillin-2
  • Fibrillins
  • Microfilament Proteins

Supplementary concepts

  • Congenital contractural arachnodactyly