The role of genomics and genetics in pulmonary arterial hypertension

Swietlik, Emilia M.; Gräf, Stefan; Morrell, Nicholas W.

doi:10.21542/gcsp.2020.13

Cited by 5 publications

(9 citation statements)

References 182 publications

(170 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Furthermore, identified genetic drivers of chronic pulmonary hypertension 188 – 190 are similar to the putative genetic factors that influence the severity of COVID-19 (described above). These similarities could have important implications for the incidence and severity of chronic pulmonary hypertension following SARS-CoV-2 infection and therefore need to be studied further.…”

Section: Chronic Sequelae Of Covid-19mentioning

confidence: 85%

Potential long-term effects of SARS-CoV-2 infection on the pulmonary vasculature: a global perspective

et al. 2021

View full text Add to dashboard Cite

The lungs are the primary target of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, with severe hypoxia being the cause of death in the most critical cases. Coronavirus disease 2019 (COVID-19) is extremely heterogeneous in terms of severity, clinical phenotype and, importantly, global distribution. Although the majority of affected patients recover from the acute infection, many continue to suffer from late sequelae affecting various organs, including the lungs. The role of the pulmonary vascular system during the acute and chronic stages of COVID-19 has not been adequately studied. A thorough understanding of the origins and dynamic behaviour of the SARS-CoV-2 virus and the potential causes of heterogeneity in COVID-19 is essential for anticipating and treating the disease, in both the acute and the chronic stages, including the development of chronic pulmonary hypertension. Both COVID-19 and chronic pulmonary hypertension have assumed global dimensions, with potential complex interactions. In this Review, we present an update on the origins and behaviour of the SARS-CoV-2 virus and discuss the potential causes of the heterogeneity of COVID-19. In addition, we summarize the pathobiology of COVID-19, with an emphasis on the role of the pulmonary vasculature, both in the acute stage and in terms of the potential for developing chronic pulmonary hypertension. We hope that the information presented in this Review will help in the development of strategies for the prevention and treatment of the continuing COVID-19 pandemic.

show abstract

Section: Chronic Sequelae Of Covid-19mentioning

confidence: 85%

Potential long-term effects of SARS-CoV-2 infection on the pulmonary vasculature: a global perspective

et al. 2021

View full text Add to dashboard Cite

show abstract

“… 1 , 2 Subsequently, 20 further genes associated with PAH have been reported, altogether contributing only to an additional 5% of PAH heritability. 3 …”

mentioning

confidence: 99%

BMPR2 mutations and response to inhaled or parenteral prostanoids: a case series

et al. 2021

View full text Add to dashboard Cite

show abstract

“…Four large collaborative genomic and multi-omic programs and biobanks are established for PAH—PVDOMICS (Redefining Pulmonary Hypertension through Pulmonary Vascular Disease Phenomics), US PAH Biobank, and UK national IPAH cohort [ 9 , 77 , 78 , 79 ]. Bone morphogenetic receptor type 2 (BMPR2) gene abnormalities are the most common cause of heritable PAH, comprising ~15% of all cases, but 20+ new genes have been identified [ 9 , 80 ]. Patients with BMPR2 mutations are unlikely to demonstrate vasoreactivity, which informs clinical management [ 81 ].…”

Section: Promise Of Quantitative Chest Ct In Phmentioning

confidence: 99%

“…In these patients, it is important to exclude other forms of PH, such as Group 1 PH, pulmonary arterial hypertension (PAH), and group 4 PH (chronic thromboembolic pulmonary hypertension (CTEPH)) [ 7 ]. Idiopathic pulmonary arterial hypertension (IPAH) is a form of PAH where no other cause of PH is identified, although, in some cases, it has a heritable component [ 8 , 9 , 10 ]. Current guidelines recommend that patients with severe pre-capillary PH with no other cause identified be classified as Group 1 IPAH [ 5 , 11 ], whereas patients with severe lung disease and mild PH are classified as having Group 3 PH-Lung.…”

Section: Introductionmentioning

confidence: 99%

Pulmonary Hypertension in Association with Lung Disease: Quantitative CT and Artificial Intelligence to the Rescue? State-of-the-Art Review

et al. 2021

View full text Add to dashboard Cite

Accurate phenotyping of patients with pulmonary hypertension (PH) is an integral part of informing disease classification, treatment, and prognosis. The impact of lung disease on PH outcomes and response to treatment remains a challenging area with limited progress. Imaging with computed tomography (CT) plays an important role in patients with suspected PH when assessing for parenchymal lung disease, however, current assessments are limited by their semi-qualitative nature. Quantitative chest-CT (QCT) allows numerical quantification of lung parenchymal disease beyond subjective visual assessment. This has facilitated advances in radiological assessment and clinical correlation of a range of lung diseases including emphysema, interstitial lung disease, and coronavirus disease 2019 (COVID-19). Artificial Intelligence approaches have the potential to facilitate rapid quantitative assessments. Benefits of cross-sectional imaging include ease and speed of scan acquisition, repeatability and the potential for novel insights beyond visual assessment alone. Potential clinical benefits include improved phenotyping and prediction of treatment response and survival. Artificial intelligence approaches also have the potential to aid more focused study of pulmonary arterial hypertension (PAH) therapies by identifying more homogeneous subgroups of patients with lung disease. This state-of-the-art review summarizes recent QCT developments and potential applications in patients with PH with a focus on lung disease.

show abstract

The role of genomics and genetics in pulmonary arterial hypertension

Cited by 5 publications

References 182 publications

Potential long-term effects of SARS-CoV-2 infection on the pulmonary vasculature: a global perspective

Potential long-term effects of SARS-CoV-2 infection on the pulmonary vasculature: a global perspective

BMPR2 mutations and response to inhaled or parenteral prostanoids: a case series

Pulmonary Hypertension in Association with Lung Disease: Quantitative CT and Artificial Intelligence to the Rescue? State-of-the-Art Review

Contact Info

Product

Resources

About