Coronary Artery Ectasia Associated With Hereditary Hemorrhagic Telangiectasia

Kurnik, Peter B.; Heymann, Warren R.

doi:10.1001/archinte.1989.00390100151031

Cited by 20 publications

(2 citation statements)

References 14 publications

(1 reference statement)

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“… AVM = arteriovenous malformation. Other sites involved more rarely include spinal, renal,36coronary,37 bony,38 urogenital, splenic,30 and retinal 39 vascular beds. Incidence data are derived from references 1, 2, and 8 except where stated. …”

Section: Hereditary Haemorrhagic Telangiectasiamentioning

confidence: 99%

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Rare diseases bullet 4: Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations: issues in clinical management and review of pathogenic mechanisms

Shovlin¹,

Letarte²

1999

Thorax

355

310

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Hereditary haemorrhagic telangiectasia (HHT, Rendu-Osler-Weber syndrome) exemplifies an important group of diseases which have catalysed advances in the understanding of fundamental pathophysiological mechanisms. In this paper areas of clinical management of HHT are discussed and the molecular pathogenesis is reviewed. The first section is aimed at all clinicians and concentrates on the recognition of a disorder in which silent cerebral and pulmonary involvement may be life threatening if left untreated. Recent data concerning the diagnostic and treatment modalities for pulmonary arteriovenous malformations (PAVMs) are also reviewed, and the growing concern that many patients with HHT may have small or residual PAVMs is highlighted. The paucity of good longitudinal data on these patients and others with diVerent forms of HHT highlights the need for further clinical studies. In the second section the results of molecular research which suggests a role for receptors and ligands of the transforming growth factor (TGF)-superfamily in the pathogenesis of this vascular disease are discussed. The means by which such information may relate to the clinical heterogeneity observed in HHT are specifically addressed, and more fundamental questions such as how reduced cell surface expression of endoglin predisposes a patient to develop PAVMs are also discussed. Hereditary haemorrhagic telangiectasiaThe classical patient with the vascular disorder hereditary haemorrhagic telangiectasia (HHT) has nose bleeds, dilated blood vessels over the lips and finger tips, and gastrointestinal bleeding in later life. However, this clinical scenario represents only one of the presentation patterns of HHT.1 2 It is now recognised that, in addition to microscopic mucocutaneous telangiectases derived from post capillary venules ( fig 1A), 3 HHT leads to the development of larger abnormal vascular structures at other sites. Arteriovenous malformations in the pulmonary, cerebral, and hepatic circulations account for some of the most devastating clinical complications of the disease.The autosomal dominant inheritance pattern of HHT has enabled identification of the underlying genetic defects, prompting increased scientific interest in the disorder. Mutations in at least two genes have been shown to be associated with HHT in diVerent families: endoglin on chromosome 9, 4 and ALK-1 (activin receptor-like kinase 1) on chromosome 12.5 Both genes encode endothelial cell transmembrane proteins that can be defined as components of the receptor complexes for growth factors of the TGF-super- Figure 1 Hereditary haemorrhagic telangiectasia (HHT). (A) Mucocutaneous

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Section: Hereditary Haemorrhagic Telangiectasiamentioning

confidence: 99%

“… Other sites involved more rarely include spinal, renal,36coronary,37 bony,38 urogenital, splenic,30 and retinal 39 vascular beds. …”

Section: Hereditary Haemorrhagic Telangiectasiamentioning

confidence: 99%

Rare diseases bullet 4: Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations: issues in clinical management and review of pathogenic mechanisms

Shovlin¹,

Letarte²

1999

Thorax

355

310

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Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Disease)

Haitjema¹

1996

Arch Intern Med

113

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Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu disease, is a hereditary disorder leading to easily bleeding telangiectases on skin and mucosal surfaces, and it is associated with the presence of arteriovenous malformations (AVMs) in multiple organ systems. These AVMs may cause serious complications when they are located in the lungs, liver, or brain. The prevalence of AVMs in patients with HHT might be higher than previously estimated. Nowadays, treatment is often possible. In some families, mutations have been shown in the gene encoding for a transforming growth factor receptor, endoglin. Genetic heterogeneity has been demonstrated, suggesting involvement of other transforming growth factor receptors. This might explain the variable clinical expression of the disease. In view of the high prevalence of pulmonary and cerebral AVMs, all patients with HHT should be screened for their presence, and relatives of patients with HHT should be investigated for presence of the disease.

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2007

Color Atlas of Local and Systemic Signs of Cardiovascular Disease

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Coronary Artery Ectasia Associated With Hereditary Hemorrhagic Telangiectasia

Cited by 20 publications

References 14 publications

Rare diseases bullet 4: Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations: issues in clinical management and review of pathogenic mechanisms

Rare diseases bullet 4: Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations: issues in clinical management and review of pathogenic mechanisms

Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Disease)

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