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Characterization of pulmonary arteriovenous malformations in ACVRL1 versus ENG mutation carriers in hereditary hemorrhagic telangiectasia
- Source :
- Genetics in medicine : official journal of the American College of Medical Genetics. 20(6)
- Publication Year :
- 2017
-
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.
- Subjects :
- 0301 basic medicine
Adult
Male
medicine.medical_specialty
Pathology
Heterozygote
Adolescent
Activin Receptors, Type II
030105 genetics & heredity
Pulmonary Artery
medicine.disease_cause
Gastroenterology
Arteriovenous Malformations
03 medical and health sciences
0302 clinical medicine
Disease severity
Internal medicine
Statistical significance
Genotype
medicine
Humans
Telangiectasia
Child
Genetics (clinical)
Computed tomography angiography
Aged
Aged, 80 and over
Mutation
medicine.diagnostic_test
business.industry
Medical record
Endoglin
ACVRL1
Middle Aged
Pulmonary Veins
Child, Preschool
Female
Telangiectasia, Hereditary Hemorrhagic
medicine.symptom
business
030217 neurology & neurosurgery
Subjects
Details
- ISSN :
- 15300366
- Volume :
- 20
- Issue :
- 6
- Database :
- OpenAIRE
- Journal :
- Genetics in medicine : official journal of the American College of Medical Genetics
- Accession number :
- edsair.doi.dedup.....521e317b5eaaeeb92004f810557bebba