Imaging Features in <i>BMPR2</i> Mutation–associated Pulmonary                     Arterial Hypertension

Zhao, Qin‐Hua; Rui, Zhang; Shi, Jianhua; Xie, Huikang; Zhang, Liping; Li, Fei; Jiang, Rong; Wu, Wenhui; Luo, Ci‐Jun; Qiu, Hong‐Ling; Li, Huiting; He, Jing; Yuan, Ping; Gong, Shan Shan; Wang, Lan

doi:10.1148/radiol.222488

Radiology

2023

DOI: 10.1148/radiol.222488

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Imaging Features in BMPR2 Mutation–associated Pulmonary Arterial Hypertension

Qin‐Hua Zhao

Zhang Rui

Jianhua Shi

et al.

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2024

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Cited by 2 publications

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Phenotypes in pulmonary hypertension

Weatherald,

Hemnes,

Maron

et al. 2024

Eur Respir J

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The clinical classification of pulmonary hypertension (PH) has guided diagnosis and treatment of patients with PH for several decades. Discoveries relating to underlying mechanisms, pathobiology, and responses to treatments for PH have informed the evolution in this clinical classification to describe the heterogeneity in PH phenotypes. In more recent years, advances in imaging, computational science, and multi-omic approaches have yielded new insights into potential phenotypes and sub-phenotypes within the existing clinical classification. Identification of novel phenotypes in pulmonary arterial hypertension (PAH) with unique molecular profiles, for example, could lead to new precision therapies. Recent phenotyping studies have also identified groups of patients with PAH that more closely resemble patients with left heart disease (group 2 PH) and lung disease (group 3 PH), which has important prognostic and therapeutic implications. Within group 2 and group 3 PH, novel phenotypes have emerged that reflect a persistent and severe pulmonary vasculopathy that is associated with worse prognosis but still distinct from PAH. In group 4 PH (chronic thromboembolic pulmonary disease) and sarcoidosis (group 5 PH) the current approach to patient phenotyping integrates clinical, hemodynamic and imaging characteristics to guide treatment but applications of multi-omic approaches to sub-phenotyping in these areas are sparse. The next iteration of the PH clinical classification is likely to reflect several emerging PH phenotypes and improve the next generation of prognostication tools, clinical trial design, and improve treatment selection in clinical practice.

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Phenotypes in pulmonary hypertension

Weatherald,

Hemnes,

Maron

et al. 2024

Eur Respir J

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Pulmonary vascular phenotype identified in patients withGDF2(BMP9) orBMP10variants: an international multicentre study

Grynblat,

Bogaard,

Eyries

et al. 2024

Eur Respir J

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BackgroundBone morphogenetic proteins 9 and 10 (BMP9 and BMP10), encoded byGDF2andBMP10, play a pivotal role in pulmonary vascular regulation.GDF2variants have been reported in pulmonary arterial hypertension (PAH) and hereditary haemorrhagic telangiectasia (HHT). However, the phenotype ofGDF2andBMP10carriers remains largely unexplored.MethodsWe report the characteristics and outcomes of PAH patients inGDF2andBMP10carriers from the French and Dutch PH registry. A literature review explored the phenotypic spectrum of these patients.ResultsTwenty-six PAH patients were identified: 20 harbouring heterozygousGDF2variants, 1 homozygousGDF2variant, 4 heterozygousBMP10variants, and one with bothGDF2andBMP10variants. The prevalence ofGDF2andBMP10variants was 1.3% and 0.4%, respectively. Median age at PAH diagnosis was 30 years, with a female-to-male ratio of 1.9. Congenital heart disease (CHD) was present in 15.4% of the patients. At diagnosis, most of the patients (61.5%) were in NYHA functional class III or IV with severe haemodynamic compromise (median pulmonary vascular resistance 9.0 WU, range 3.3–40.6) WU. Haemoptysis was reported in four patients, none met the HHT criteria. Two patients carryingBMP10variants underwent lung transplantation, revealing typical PAH histopathology. The literature analysis showed that 7.6% ofGDF2carriers developed isolated HHT and identified cardiomyopathy and developmental disorders inBMP10carriers.ConclusionsGDF2andBMP10pathogenic variants are rare among PAH patients, and occasionally associated with CHD. HHT cases amongGDF2carriers are limited according to literature.BMP10full phenotypic ramifications warrant further investigation.

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Imaging Features in BMPR2 Mutation–associated Pulmonary Arterial Hypertension

Cited by 2 publications

References 22 publications

Phenotypes in pulmonary hypertension

Phenotypes in pulmonary hypertension

Pulmonary vascular phenotype identified in patients withGDF2(BMP9) orBMP10variants: an international multicentre study

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