Identification and validation of a novel pathogenic variant in GDF2 ( BMP9 ) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations

2021 ◽  
Author(s):  
Srimmitha Balachandar ◽  
Tamara J. Graves ◽  
Anika Shimonty ◽  
Katie Kerr ◽  
Jill Kilner ◽  
...  
Keyword(s):  
Hereditary Hemorrhagic Telangiectasia ◽  
Arteriovenous Malformations ◽  
Pathogenic Variant ◽  
Pulmonary Arteriovenous Malformations

Hereditary Hemorrhagic Telangiectasia (HHT)

2010 ◽  
pp. 204-207
Author(s):  
Edward C. Rosenow
Keyword(s):  
Hereditary Hemorrhagic Telangiectasia ◽  
Arteriovenous Malformations ◽  
Pulmonary Arteriovenous Malformations

• Also known as Osler-Weber-Rendu disease • Bruits heard in about half of cases, but they are small or not subpleural • Bruits become louder with inspiration • 80% to 90% of patients with pulmonary arteriovenous malformations (AVMs) have HHT; only 30% of patients with HHT have pulmonary AVM...

scholarly journals Pulmonary arteriovenous malformations in children with hereditary hemorrhagic telangiectasia: a longitudinal study

2018 ◽  
Vol 8 (3) ◽  
pp. 204589401878669 ◽  
Author(s):  
Katie L. Mowers ◽  
Lynn Sekarski ◽  
Andrew J. White ◽  
R. Mark Grady
Keyword(s):  
Longitudinal Study ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Arteriovenous Malformations ◽  
Clinical Symptoms ◽  
Contrast Echocardiography ◽  
Genetic Diagnosis ◽  
Pulmonary Arteriovenous Malformations ◽  
Initial Screening ◽  
And Gender ◽  
Transthoracic Contrast Echocardiography

Pulmonary arteriovenous malformations (PAVMs) often occur in children with hereditary hemorrhagic telangiectasia (HHT). A 14-year longitudinal study of PAVMs in children with HHT was undertaken to assess the prevalence, the clinical impact, and progression of these malformations. This was a retrospective, single-center study from May 2002 to December 2016 of 129 children with HHT diagnosed using Curacao criteria and/or confirmed by genetic testing. Transthoracic contrast echocardiography (TTCE) was the primary screening modality in all patients and PAVMs were diagnosed based on Barzilai criteria. Moderately positive TTCE (Barzilai criteria ≥ 2) was confirmed with subsequent contrast chest CT. New PAVMs were diagnosed with a positive TTCE after an initial negative TTCE. Embolization of PAVMs were performed according to HHT consensus guidelines. Of 129 children with HHT, 76 (59%) were found to have PAVMs. Sixty-seven (88%) were positive for PAVMs on initial screening. Of 63 children without PAVMs on initial screening, 31 were followed for >1 year. Nine of the 31 (29%) developed new PAVMs after initial negative study. Thirty-eight (50%) of the total 76 children with PAVMs had or developed lesions large enough to be treated with embolization. Nine patients with PAVMs initially too small to be treated with embolization, developed progression of disease and ultimately were treated with embolization over time. The majority, 60% (23/38), of the children with large PAVMs had no related clinical symptoms. After embolization, 21% (8/38), of patients underwent repeat interventions. Genetic diagnosis, age, and gender were not associated with risk of having PAVM nor with need for repeat interventions. Nearly 60% of children with HHT develop PAVMs. The risk for new PAVMs to develop, small PAVMs to become large, and previously embolized PAVMs to require further intervention remains throughout childhood. Thus, children with HHT require continued follow-up until adulthood.

scholarly journals Approach to Pulmonary Arteriovenous Malformations: A Comprehensive Update

2020 ◽  
Vol 9 (6) ◽  
pp. 1927 ◽  
Author(s):  
Shamaita Majumdar ◽  
Justin P. McWilliams
Keyword(s):  
Chest Pain ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Gold Standard ◽  
Arteriovenous Malformations ◽  
Pulmonary Arteries ◽  
Clinical Manifestations ◽  
High Flow ◽  
Pulmonary Arteriovenous Malformations ◽  
Institutional Experience ◽  
Arteries And Veins

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.

Pulmonary Arteriovenous Malformations and Cerebral Abscess Recurrence in a Child With Hereditary Hemorrhagic Telangiectasia

2015 ◽  
Vol 37 (3) ◽  
pp. e200-e203 ◽  
Author(s):  
Paola Giordano ◽  
Maria Sangerardi ◽  
Patrizia Suppressa ◽  
Patrizia Lastella ◽  
Ettore Attolini ◽  
...  
Keyword(s):  
Hereditary Hemorrhagic Telangiectasia ◽  
Arteriovenous Malformations ◽  
Cerebral Abscess ◽  
Pulmonary Arteriovenous Malformations
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