Familial pulmonary hypertension and multiple abnormalities of large systemic arteries in Osler's disease

Trell, Erik; Johansson, Bengt W.; Linell, F; Ripa, J.

doi:10.1016/0002-9343(72)90115-5

Cited by 74 publications

(38 citation statements)

References 65 publications

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“…The similarities are as follows: dominant transmission and tendency to bleeding from mucous membranes (present in our subjects ILI.1 and 11.1). Moreover, abnormalities of the larger vessels found in the brain of case RI.1 seem to be similar to those present in some cases of Rendu-Osler-Weber disease, either in the brain (Boczko, 1964;Arnould et al, 1969) or in other organs (Trell et al, 1972). The systemic nature of the lesions also are similar in both conditions.…”

Section: Discussionsupporting

confidence: 72%

Hereditary neurocutaneous angioma: a new genetic entity?

Zaremba¹,

Stepień²,

Jelowicka³

et al. 1979

Journal of Medical Genetics

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SUMMARY A family pedigree with a possible new genetic syndrome characterised by the presence of angiomas, systemic in nature, affecting particularly the skin and the central nervous system, is described. Angiomas of the CNS seem to have a marked tendency to bleed. The condition shows a clearly dominant mode of transmission, four subjects in three generations being affected.Differentiation from other conditions belonging to the vascular abnormalities subgroup of phakomatoses is presented.

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Section: Discussionsupporting

confidence: 72%

Hereditary neurocutaneous angioma: a new genetic entity?

Zaremba¹,

Stepień²,

Jelowicka³

et al. 1979

Journal of Medical Genetics

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“…[10][11][12] Pulmonary hypertension that is clinically and histologically indistinguishable from primary pulmonary hypertension may occur in persons with hereditary hemorrhagic telangiectasia, an autosomal dominant vascular dysplasia. 13,14 Abnormalities in endothelial cells in patients with hereditary hemorrhagic telangiectasia are associated with mucocutaneous telangiectases.…”

Section: Resultsmentioning

confidence: 99%

“…14,30 In contrast, primary pulmonary hypertension is characterized by obliteration of small pulmonary arteries, leading to increased pulmonary vascular resistance, marked elevation of pulmonary arterial pressure, and ultimately, a reduction in cardiac output. 1 We identified a total of 10 subjects with pulmonary hypertension from 5 families with hereditary hemorrhagic telangiectasia and 1 subject with no available family history.…”

Section: Known Features Of Phmentioning

confidence: 99%

Clinical and Molecular Genetic Features of Pulmonary Hypertension in Patients with Hereditary Hemorrhagic Telangiectasia

et al. 2001

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“…Typically recognised by nosebleeds, mucocutaneous telangiectasia and visceral AVMs [21], HHT may be associated with PH [9,[22][23][24][25][26][27][28][29][30]. The secondary causes of PH in HHT are diverse, as they are in the normal population [31], but PH particularly occurs either as a true pulmonary arterial hypertension (PAH) phenotype [9,22,[28][29][30] or in the context of high output cardiac failure secondary to hepatic AVMs, when PH may be reversible after hepatic AVM treatment [32].…”

mentioning

confidence: 99%

Embolisation of pulmonary arteriovenous malformations: no consistent effect on pulmonary artery pressure

Shovlin¹,

Tighe²,

Davies³

et al. 2008

European Respiratory Journal

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Increasing evidence supports the use of embolisation to treat pulmonary arteriovenous malformations (AVMs). Most pulmonary AVM patients have hereditary haemorrhagic telangiectasia (HHT), a condition that may be associated with pulmonary hypertension.The current authors tested whether pulmonary AVM embolisation increases pulmonary artery pressure (Ppa) in patients without baseline severe pulmonary hypertension. Ppa was measured at the time of pulmonary AVM embolisation in 143 individuals, 131 (92%) of whom had underlying HHT. Angiography/embolisation was not performed in four individuals with severe pulmonary hypertension, whose systemic arterial oxygen saturation exceeded levels usually associated with dyspnoea in pulmonary AVM patients.In 143 patients undergoing pulmonary AVM embolisation, Ppa was significantly correlated with age, with the most significant increase occurring in the upper quartile (aged .58 yrs). In 43 patients with repeated measurements, there was no significant increase in Ppa as a result of embolisation. In half, embolisation led to a fall in Ppa. The maximum rise in mean Ppa was 8 mmHg: balloon test occlusion was performed in one of these individuals, and did not predict the subsequent rise in Ppa following definitive embolisation of the pulmonary AVMs.In the present series of patients, which excluded those with severe pulmonary hypertension, pulmonary artery pressure was not increased significantly by pulmonary arteriovenous malformation embolisation.KEYWORDS: Brain abscess, hypoxaemia, nosebleeds, oxygen saturation, right-to-left shunt, stroke D oes embolisation of pulmonary arteriovenous malformations (AVMs) precipitate pulmonary hypertension (PH)? The reason this question is important is that for individuals with pulmonary AVMs, embolisation is an effective means of reducing lifetime risks of paradoxical embolic stroke and brain abscess [1,2], improving oxygenation [3][4][5][6][7][8][9][10][11][12][13][14][15][16][17] and treating pulmonary AVM-related haemoptysis [18,19]. Conversely, embolisation may be expected to elevate pulmonary artery pressure (Ppa), since pulmonary AVMs are abnormal dilated vessels between pulmonary arteries and veins that provide low resistance pathways for pulmonary blood flow [20].The question of whether pulmonary AVM embolisation increases Ppa is particularly pertinent, since most individuals with pulmonary AVMs have underlying hereditary haemorrhagic telangiectasia (HHT). Typically recognised by nosebleeds, mucocutaneous telangiectasia and visceral AVMs [21], HHT may be associated with PH [9,[22][23][24][25][26][27][28][29][30]. The secondary causes of PH in HHT are diverse, as they are in the normal population [31], but PH particularly occurs either as a true pulmonary arterial hypertension (PAH) phenotype [9,22,[28][29][30] or in the context of high output cardiac failure secondary to hepatic AVMs, when PH may be reversible after hepatic AVM treatment [32]. The frequencies of PAH and hepatic AVMs differ with HHT genotype: HHT is caused by mutatio...

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Familial pulmonary hypertension and multiple abnormalities of large systemic arteries in Osler's disease

Cited by 74 publications

References 65 publications

Hereditary neurocutaneous angioma: a new genetic entity?

Hereditary neurocutaneous angioma: a new genetic entity?

Clinical and Molecular Genetic Features of Pulmonary Hypertension in Patients with Hereditary Hemorrhagic Telangiectasia

Embolisation of pulmonary arteriovenous malformations: no consistent effect on pulmonary artery pressure

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