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

Jonathan N. Berg; Alan E. Guttmacher; Douglas A. Marchuk; Mary E.M. Porteous

doi:10.1136/jmg.33.3.256

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

Jonathan N. Berg (Lead / Corresponding author), Alan E. Guttmacher, Douglas A. Marchuk, Mary E.M. Porteous

Undergraduate Medicine

Research output: Contribution to journal › Article › peer-review

121 Citations (Scopus)

Abstract

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 (χ² = 19.2, p < 0.001). This information can be used to decide how to screen HHT patients for PAVMs.

Original language	English
Pages (from-to)	256-257
Number of pages	2
Journal	Journal of Medical Genetics
Volume	33
Issue number	3
DOIs	https://doi.org/10.1136/jmg.33.3.256
Publication status	Published - 1 Mar 1996

Keywords

Endoglin
Hereditary haemorrhagic telangiectasia
Pulmonary arteriovenous malformation

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1136/jmg.33.3.256

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

abstract = "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 (χ2 = 19.2, p < 0.001). This information can be used to decide how to screen HHT patients for PAVMs.",

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Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin? / Berg, Jonathan N. (Lead / Corresponding author); Guttmacher, Alan E.; Marchuk, Douglas A. et al.
In: Journal of Medical Genetics, Vol. 33, No. 3, 01.03.1996, p. 256-257.

Research output: Contribution to journal › Article › peer-review

TY - JOUR

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T2 - are pulmonary arteriovenous malformations more common in families linked to endoglin?

AU - Berg, Jonathan N.

AU - Guttmacher, Alan E.

AU - Marchuk, Douglas A.

AU - Porteous, Mary E.M.

PY - 1996/3/1

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N2 - 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 (χ2 = 19.2, p < 0.001). This information can be used to decide how to screen HHT patients for PAVMs.

AB - 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 (χ2 = 19.2, p < 0.001). This information can be used to decide how to screen HHT patients for PAVMs.

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

Abstract

Keywords

ASJC Scopus subject areas

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