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  • Title: Characterization of pulmonary arteriovenous malformations in ACVRL1 versus ENG mutation carriers in hereditary hemorrhagic telangiectasia.
    Author: Mu W, Cordner ZA, Yuqi Wang K, Reed K, Robinson G, Mitchell S, Lin D.
    Journal: Genet Med; 2018 Jun; 20(6):639-644. PubMed ID: 29048420.
    Abstract:
    PurposePulmonary arteriovenous malformations (pAVMs) are major contributors to morbidity and mortality in hereditary hemorrhagic telangiectasia (HHT). Mutations in ENG and ACVRL1 underlie the vast majority of clinically diagnosed cases. The aims of this study were to characterize and compare the clinical and morphologic features of pAVMs between these two genotype groups.MethodsSixty-six patients with HHT and affected family members were included. Genotype, phenotypic data, and imaging were obtained from medical records. Morphologic features of pAVMs were analyzed using computed tomography angiography. HHT symptoms, pAVM imaging characteristics, frequency of procedural intervention, and HHT severity scores were compared between ENG and ACVRL1 genotype groups.ResultsENG mutation carriers were more likely than ACVRL1 mutation carriers to have pAVMs (P < 0.001) or multiple lesions (P = 0.03), and to undergo procedural intervention (P = 0.02). Additionally, pAVMs in ENG carriers were more likely to exhibit bilateral lung involvement and growth over time, although this did not reach statistical significance. The HHT severity score was significantly higher in ENG than in ACVRL1 (P = 0.02).ConclusionThe propensity and multiplicity of ENG-associated pAVMs may contribute to the higher disease severity in this genotype, as reflected by the HHT severity score and the frequency of interventional procedures.
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