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Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin?

Publication ,  Journal Article
Berg, JN; Guttmacher, AE; Marchuk, DA; Porteous, ME
Published in: J Med Genet
March 1996

Pulmonary arteriovenous malformations (PAVMs) occur in up to 27% of patients with hereditary haemorrhagic telangiectasia (HHT) and are associated with a rate of paradoxical cerebral embolism at presentation of up to 36%. At least two different loci have been shown for HHT. Mutations in endoglin have been found in some families and the locus designated ORW1. In other families this locus has been excluded. In this paper we confirm that in families linked to ORW1 there is a prevalence of PAVMs among affected members of 29.2%, compared to a prevalence of 2.9% in families in which this locus has been excluded (chi 2 = 19.2, p < 0.001). This information can be used to decide how to screen HHT patients for PAVMs.

Duke Scholars

Published In

J Med Genet

DOI

ISSN

0022-2593

Publication Date

March 1996

Volume

33

Issue

3

Start / End Page

256 / 257

Location

England

Related Subject Headings

  • Vascular Cell Adhesion Molecule-1
  • Telangiectasia, Hereditary Hemorrhagic
  • Receptors, Cell Surface
  • Pulmonary Veins
  • Pulmonary Artery
  • Prevalence
  • Pedigree
  • Male
  • Humans
  • Genetics & Heredity
 

Citation

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Berg, J. N., Guttmacher, A. E., Marchuk, D. A., & Porteous, M. E. (1996). Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin? J Med Genet, 33(3), 256–257. https://doi.org/10.1136/jmg.33.3.256
Berg, J. N., A. E. Guttmacher, D. A. Marchuk, and M. E. Porteous. “Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin?J Med Genet 33, no. 3 (March 1996): 256–57. https://doi.org/10.1136/jmg.33.3.256.
Berg, J. N., et al. “Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin?J Med Genet, vol. 33, no. 3, Mar. 1996, pp. 256–57. Pubmed, doi:10.1136/jmg.33.3.256.

Published In

J Med Genet

DOI

ISSN

0022-2593

Publication Date

March 1996

Volume

33

Issue

3

Start / End Page

256 / 257

Location

England

Related Subject Headings

  • Vascular Cell Adhesion Molecule-1
  • Telangiectasia, Hereditary Hemorrhagic
  • Receptors, Cell Surface
  • Pulmonary Veins
  • Pulmonary Artery
  • Prevalence
  • Pedigree
  • Male
  • Humans
  • Genetics & Heredity