Pulmonary Hypertension Prevalence and Prognosis in a Cohort of Patients with Hereditary Hemorrhagic Telangiectasia Undergoing Embolization of Pulmonary Arteriovenous Malformations

Chizinga, Mwelwa; Rudkovskaia, Anastasiia; Henderson, Katharine J.; Pollak, Jeffrey; García–Tsao, Guadalupe; Young, Lawrence H.; Fares, Wassim H.

doi:10.1164/rccm.201702-0267le

Cited by 17 publications

(19 citation statements)

References 11 publications

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“…Pulmonary hypertension (PH), defined as mean pulmonary arterial pressure (mPAP) ≥25 mmHg [78], is relatively common among HHT patients, with reported rates between 1.5-13% [10,[79][80][81]. Screening for PH can be performed at the time of routine TTCE [79].…”

Section: Pulmonary Hypertensionmentioning

confidence: 99%

“…Lastly, some authors suggest the use of time-resolved magnetic resonance imaging (MRI) for follow-up, particularly in patients treated with coils as there may be less induced metallic artifact with this modality [3,16,115,116]. A recent pilot study compared the use of ferumoxytol-enhanced MR angiography (MRA) to CT angiography (CTA) for PAVM detection [81]. The two modalities were comparable in detection rate for PAVMs > 2 mm, and ferumoxytol-enhanced MRA was able to detect several persistent PAVMs which were missed by CTA due to beam-hardening artifact from embolization coils.…”

Section: Follow-upmentioning

confidence: 99%

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Approach to Pulmonary Arteriovenous Malformations: A Comprehensive Update

Majumdar

McWilliams

2020

JCM

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Pulmonary arteriovenous malformations (PAVMs) are abnormal direct vascular communications between pulmonary arteries and veins which create high-flow right-to-left shunts. They are most frequently congenital, usually in the setting of hereditary hemorrhagic telangiectasia (HHT). PAVMs may be asymptomatic or present with a wide variety of clinical manifestations such as dyspnea, hypoxemia, or chest pain. Even when asymptomatic, presence of PAVMs increases patients’ risk of serious, potentially preventable complications including stroke or brain abscess. Transcatheter embolotherapy is considered the gold standard for treatment of PAVMs. Though previous guidelines have been published regarding the management of PAVMs, several aspects of PAVM screening and management remain debated among the experts, suggesting the need for thorough reexamination of the current literature. The authors of this review present an updated approach to the diagnostic workup and management of PAVMs, with an emphasis on areas of controversy, based on the latest literature and our institutional experience.

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Section: Pulmonary Hypertensionmentioning

confidence: 99%

Section: Follow-upmentioning

confidence: 99%

Approach to Pulmonary Arteriovenous Malformations: A Comprehensive Update

Majumdar

McWilliams

2020

JCM

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“…Any of these types of PH in combination with HHT can lead to a worse prognosis. Chizinga et al studied 651 HHT patients of whom 13% had PH defined as a mean PAP > 25 mmHg during RHC [ 85 ]. Although the type of PH is not further defined in most of these patients, there is a significant associated mortality with PH in HHT patients (hazard ratio (adjusted for age) 3.8; p < 0.0001) [ 85 ].…”

Section: Pulmonary Hypertension As Complications Of Hereditary Hamentioning

confidence: 99%

Pulmonary Arterial Hypertension and Hereditary Haemorrhagic Telangiectasia

Vorselaars

Hosman

Westermann

et al. 2018

IJMS

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Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant inherited disease characterised by multisystemic vascular dysplasia. Heritable pulmonary arterial hypertension (HPAH) is a rare but severe complication of HHT. Both diseases can be the result of genetic mutations in ACVLR1 and ENG encoding for proteins involved in the transforming growth factor-beta (TGF-β) superfamily, a signalling pathway that is essential for angiogenesis. Changes within this pathway can lead to both the proliferative vasculopathy of HPAH and arteriovenous malformations seen in HHT. Clinical signs of the disease combination may not be specific but early diagnosis is important for appropriate treatment. This review describes the molecular mechanism and management of HPAH and HHT.

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“…Recently published experience highlights the impact that PH has on mortality in HHT. 9,10 Some ACVRL1 mutations, and possibly ENG mutations, are linked to the development of a proliferative arteriopathy in the pulmonary circulation, similar to idiopathic pulmonary arterial hypertension (IPAH) and pulmonary arterial hypertension (PAH) due to bone morphogenetic protein receptor 2 (BMPR2) mutations. This form of PH is classified as Group 1 PH, HPAH in patients with concomitant HHT diagnosis (Case 2).…”

Section: Initial Assessment and Managementmentioning

confidence: 99%