Arteriovenous aneurysm of the lung

Muri, Jan W.

doi:10.1016/0002-9610(55)90529-8

Cited by 42 publications

(6 citation statements)

References 56 publications

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“…The mortality rate in historical reviews of untreated but usually symptomatic patients with PAVMs over periods of 15 years or less ranges from 4% to 22%52 55 56 58 59 and, in severe cases, up to 40% 60. Complications are more common when HHT is present 61.…”

Section: Pulmonary Arteriovenous Malformations and Hhtmentioning

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

358

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: Pulmonary Arteriovenous Malformations and Hhtmentioning

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

358

310

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“…9 Some investigators have thus insisted on the need for treatment, even for asymptomatic PAVFs. 2,4 Female patients with PAVF reportedly display worsened signs and symptoms after pregnancy; and increased blood fl ow or humoral responses to pregnancy may represent a factor in the rapid growth of existing fi stulas.…”

Section: Discussionmentioning

confidence: 99%

Surgery for multiple and diffuse pulmonary arteriovenous fistulas during childhood

Takahama

Yamamoto

Nakajima

et al. 2009

Gen Thorac Cardiovasc Surg

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“…The mortality rate in untreated but usually symptomatic patients with pAVMs ranges from 4% to 22% [40,47], in severe cases even up to 40% [48]. The abnormal vessels can bleed into the bronchus or the pleural cavity, sometimes with a fatal outcome [49]. The direct communication between the pulmonary and systemic circulation bypasses the capillary bed, and the functional consequences cause the most common problems.…”

Section: Lungmentioning

confidence: 98%

Hereditary hemorrhagic telangiectasia: an update on clinical manifestations and diagnostic measures

Sadick

Götte

et al. 2006

Wien Klin Wochenschr

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Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber disease, is an autosomal dominant disorder of the fibrovascular tissue. It is characterized by the classic triad of (muco-)cutaneous telangiectases, arteriovenous malformations with recurrent epistaxis and hemorrhages, and inheritance. A wide variety of clinical manifestations in HHT have been described. In more than 90% of the patients, nosebleeds are the first predominant symptom, therefore ENT physicians often play a key role as far as diagnosis and management of the disease are concerned. In spite of recent diagnostic and therapeutic progress, a cure for this often burdening and handicapping disease is still not available. Apart from affecting the nose, arteriovenous malformations (AVMs) may also affect the skin, lungs, brain, liver and gastrointestinal tract. The two known genes that are implicated in HHT are endoglin (ENG) located on chromosome 9q33-q34 and activin-receptor-like kinase (ALK1) located on chromosome 12q13. Mutations of ENG are observed in HHT type 1 with an incidence up to 40% for pulmonary AVMs, whereas mutations of ALK1 are observed in HHT type 2 with an incidence of only 14% for pulmonary AVMs, which clinically distinguishes these two types of mutation. The emphasis of this paper is mainly on the clinical manifestation, molecular genetics and diagnosis of HHT, taking account of current literature on HHT in order to better understand the complexity of the disease. Recent therapeutic options in the treatment of HHT have been omitted from this paper as they are subject of a following paper. HHT is more common than previously thought and shows a broad range of different clinical organ manifestations that can be sources of substantial morbidity and mortality, making HHT a continuing challenge for many sub-specialties where interdisciplinary diagnostic screening is mandatory in the management of the disease.

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Arteriovenous aneurysm of the lung

Cited by 42 publications

References 56 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

Surgery for multiple and diffuse pulmonary arteriovenous fistulas during childhood

Hereditary hemorrhagic telangiectasia: an update on clinical manifestations and diagnostic measures

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