Portal hypertension in Williams syndrome: Report of two patients

Miguel Del Campo Casanelles, Juan José Gil-Fernández, Luis F. Magano Casero, Manuel García Bengoechea, Rosario Serrano, José María Fernández Rafiada, Luis Alberto Pérez Jurado

Research output: Contribution to journalArticlepeer-review

4 Citations (Scopus)

Abstract

Williams or Williams-Beuren syndrome (WBS) is a developmental disorder with multisystemic manifestations characterized by distinctive facial features, mental disability with unique cognitive and personality profiles, vascular stenoses, growth retardation, and occasional infantile hypercalcemia, caused by haploinsufficiency for genes deleted in chromosome band 7q11.23. However, with the exception of arterial stenoses caused by haploinsufficiency for the elastin gene (ELN), no specific implication of any other gene in the phenotype has been established. We present two patients with portal hypertension leading to splenomegaly and pancytopenia carrying the common 1.5 Mb WBS deletion. We propose this is an additional severe vascular complication of ELN deficiency and discuss the specific characteristics of the portal venous tract that could explain the impact of ELN deficiency in that venous territory. This complication is potentially lethal and should thus be considered in any patient with WBS and splenomegaly.

Original languageEnglish
Pages (from-to)372-376
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume118 A
Issue number4
Publication statusPublished - 1 May 2003
Externally publishedYes

Keywords

  • Elastin
  • Pancytopenia
  • Portal hypertension
  • Splenomegaly
  • Williams syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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