The primary aim of this study is to develop a registry for Hereditary Hemorrhagic Telangiectasia (HHT) to characterize systematically the clinical presentation, the prevalence of particular manifestations and the natural history of this disorder, linking these phenotypic subtypes to particular genetic defects that have been and are in the process of being identified. The secondary aim is to determine the prevalence of pAVM (pulmonary arteriovenous malformations) in asymptomatic patients with HHT, to study if certain patient subgroups or families are at increased risk of pAVM and to document the sensitivity and specificity of commonly used screening tests for the detection of pAVM.

Project Start
1999-12-01
Project End
2000-11-30
Budget Start
Budget End
Support Year
37
Fiscal Year
2000
Total Cost
Indirect Cost
Name
Yale University
Department
Type
DUNS #
082359691
City
New Haven
State
CT
Country
United States
Zip Code
06520
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