Pulmonary hypertension in hereditary haemorrhagic telangiectasia

Vorselaars, Veronique M.M.

doi:10.4330/wjc.v7.i5.230

Cited by 42 publications

(43 citation statements)

References 46 publications

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“…Significant PH is observed in around 8% of HHT patients, usually secondary to high cardiac output [24] , particularly in association with liver vascular malformations [97][98][99][100] . This is distinct from the rarer pulmonary arterial hypertension (PAH) phenotype, with different physiopathology and treatment algorithms ( Table 2 ; Fig.…”

Section: Pulmonary Hypertension In Hhtmentioning

confidence: 99%

“…• PAVMs affect ∼ 50% of all HHT patients [18] ; PAVMs result in an anatomical right-to-left shunt, cause hypoxemia, and place patients at high risk of paradoxical embolic strokes and cerebral abscesses [19] , but their importance remains underrecognized [20] • ∼ 20% of HHT patients with no evidence of PAVMs on thoracic CT scans also display evidence of intrapulmonary right-to-left shunting by contrast echocardiography (CE) [21] , and there is limited appreciation that this can be a normal variant in the general population [22] • Although the focus of many publications, significant pulmonary hypertension (PH) is rare in HHT; supranormal pulmonary artery pressures are identified in up to 20% of unselected HHT patients [23] , but this is usually secondary to a high pulmonary blood flow [24] because of elevated cardiac outputs required to meet the wider circulatory demands imposed by hepatic AVMs and other HHT complications [25] ; pulmonary arterial hypertensive phenotypes are rare [26][27][28][29] • There appear to be minor modifications in the incidence of nonvascular pulmonary conditions, particularly lung cancer and sleep apnea…”

Section: Introductionmentioning

confidence: 99%

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The Lung in Hereditary Hemorrhagic Telangiectasia

2017

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Hereditary hemorrhagic telangiectasia (HHT) is a dominantly inherited genetic vascular disorder with an estimated prevalence of 1 in 6,000, characterized by recurrent epistaxis, cutaneous telangiectasia, and arteriovenous malformations (AVMs) that affect many organs including the lungs, gastrointestinal tract, liver, and brain. Its diagnosis is based on the Curaçao criteria, and is considered definite if at least 3 of the 4 following criteria are fulfilled: (1) spontaneous and recurrent epistaxis, (2) telangiectasia, (3) a family history, and (4) pulmonary, liver, cerebral, spinal, or gastrointestinal AVMs. The focus of this review is on delineating how HHT affects the lung.

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Section: Pulmonary Hypertension In Hhtmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

The Lung in Hereditary Hemorrhagic Telangiectasia

2017

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“…1 Abdominal ultrasound/CT only performed if history, physical examination, or blood test results were suggestive for HAVMs. 247 tients experience, may trigger this cascade due to an increase in CO [11,29,30] . This hypothesis was confirmed in our study, as hemoglobin was a predictor for increasedprobability PH (OR 0.6, 95% CI 0.5-0.7).…”

Section: Discussionmentioning

confidence: 99%

“…(1) PH is the result of a high pulmonary blood flow that accompanies the high CO state associated with HAVMs [11,13,29] . In patients with HAVMs, shunting of blood from the hepatic arteries and/or portal veins to the hepatic veins results in a hyperdynamic state, in which CO can be elevated up to threefold [30] .…”

Section: Discussionmentioning

confidence: 99%

Pulmonary Hypertension in a Large Cohort with Hereditary Hemorrhagic Telangiectasia

Vorselaars¹,

Velthuis²,

Gent³

et al. 2017

Respiration

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Background: Hereditary hemorrhagic telangiectasia (HHT) is a vascular disorder characterized by arteriovenous malformations in the brain, liver, and lungs. Pulmonary hypertension (PH) is increasingly recognized as a severe complication of HHT. However, there are no studies describing the prevalence of PH in HHT compared to HHT-negative controls. Objective: To assess the estimated prevalence of PH in patients with HHT compared to HHT-negative controls. Methods: All consecutive subjects screened for HHT with available genetic testing and echocardiography-based peak tricuspid regurgitation velocity (TRV) measurement were included. Increased-probability PH was defined as a TRV >2.8 m/s. Results: In 578 subjects, both echocardiography and genetic testing were available. A reliable TRV was measured in 383 (66.3%), of whom 127 had HHT type 1 (HHT1), 150 had HHT type 2 (HHT2), and 106 were HHT-negative controls, with a mean TRV of 2.3 ± 0.4, 2.4 ± 0.5, and 2.2 ± 0.3 m/s, respectively (p = 0.008 and p < 0.001 vs. controls). Increased-probability PH was found in 42 subjects (8.7% in HHT1, 18.0% in HHT2, and 3.8% in HHT-negative controls). HHT2 and hepatic arteriovenous malformations (HAVMs) were the most important predictors for increased-probability PH (odds ratio 5.6, p = 0.002, and odds ratio 11.3, p < 0.001, respectively). Heritable pulmonary arterial hypertension (HPAH) was diagnosed in 2 patients (0.7%) and only found in HHT2 (1.3%). Conclusion: The estimated prevalence of PH is higher in HHT patients compared to HHT-negative controls. This increase is especially present in HHT2 and mainly associated with the presence of HAVMs. HPAH appears to be rare in HHT patients and was only diagnosed in HHT2.

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“…Symptoms of HHT include frequent epistaxis, telangiectasias in the skin and mucosa, and importantly the development of arteriovenous malformations in the pulmonary, hepatic, and cerebral circulation [127]. A number of HHT-affected families and individuals have been diagnosed with PAH [1,68,203], where the precapillary pattern of pulmonary arterial hypertension is histologically indistinguishable between these diseases [208]. HHT is divided into subtypes such as HHT-1, HHT-2, and HHT-5 according to the underlying genetic mutations, in addition to HHT associated with juvenile polyposis [137].…”

Section: Hereditary Hemorrhagic Telangiectasia (Hht) Is An Overlap Symentioning

confidence: 99%

Bone Morphogenetic Protein Signaling in Pulmonary Arterial Hypertension

Yang

2017

Bone Morphogenetic Proteins: Systems Biology Regulators

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A wealth of evidence from human genetics, developmental and cell biology, and translational science has implicated members of the bone morphogenetic protein (BMP) and transforming growth factor-β (TGF-β ) signaling family in the pathogenesis of pulmonary arterial hypertension (PAH). The discovery of loss-offunction germline mutations in BMPR2 and in functionally related BMP/TGF-β signal transduction molecules as causes of heritable PAH and several overlapping congenital vascular syndromes has catalyzed work to elucidate how BMP signals critically regulate vascular development, vascular homeostasis, inflammation, metabolism and pathogenic remodeling. This work in vascular biology and experimental medicine has in turn led to a more nuanced understanding by which the structurally diverse family of BMP ligands and receptors achieve their tissue-specific and context-dependent functions. Recently this work has shed light on promising new strategies by which dysregulated BMP/TGF-β might be modulated for therapeutic benefit in PAH and related conditions. BMP Signaling in the Cardiopulmonary SystemBMP signaling plays a fundamental role in the development and homeostasis of the heart and the systemic and pulmonary circulation. Spatiotemporal specificity of BMP signaling in the cardiopulmonary system is achieved by selective expression

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Pulmonary hypertension in hereditary haemorrhagic telangiectasia

Cited by 42 publications

References 46 publications

The Lung in Hereditary Hemorrhagic Telangiectasia

The Lung in Hereditary Hemorrhagic Telangiectasia

Pulmonary Hypertension in a Large Cohort with Hereditary Hemorrhagic Telangiectasia

Bone Morphogenetic Protein Signaling in Pulmonary Arterial Hypertension

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