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2007 Review of Utah Pulmonary Hypertension Genetics Project: Updated Revisions and Findings

J. W. Schmidt

E. W. Glissmeyer

D. Adams

B. L. Wojciechowski

C. Gregory Elliott


Matthew Hegewald


J. Carlquist

M. Mead

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Conference: 2008 International PHA Conference and Scientific Sessions

Release Date: 06.20.2008

Presentation Type: Abstracts

Schmidt J.W., Glissmeyer E.W., Adams D., Wojciechowski B.L., Elliott C.G., Hegewald, M.J., Carlquist J., Mead M.

LDS Hospital, University of Utah, Taueret Laboratories, LLC, USA

BACKGROUNDThe Utah Pulmonary Hypertension Genetics Project is a database of medical records and DNA samples collected from pulmonary hypertension (PH) patients and family members. The goal of the project is to better understand the inherited basis, natural history, and pathogenesis of PH. The purpose of this abstract is to report the current status of the project. 

METHODSThe project has enrolled 1201 individuals from 43 of the 50 United States, Mexico, Canada, England and Australia. Subjects are recruited from the Intermountain PH Center as well as international and regional Pulmonary Hypertension Association meetings. Patients are classified according to 2003 consensus guidelines(JACC 2004;43:5S-12S). As part of the database, DNA specimens have been collected from 882 individuals. DNA samples include PH patients and apparently unaffected family members.

Results.

Enrolled

DNA Sample

1.

Pulmonary arterial hypertension (PAH)

 

 

1.1

Idiopathic (IPAH)

206

162

1.2

Familial (FPAH)

52

40

1.3

Associated with (APAH):

 

 

1.3.1

Collagen vascular disease

52

37

1.3.2

Congenital systemic to pulmonary shunts

34

21

1.3.3

Portal hypertension

21

16

1.3.4

HIV infection

2

2

1.3.5

Drugs and toxins

70

59

1.3.6

Other

7

5

1.4.1

Pulmonary veno-occlusive disease (PVOD)

2

1

1.4.2

Pulmonary capillary hemangiomatosis (PCH)

1

1

2.

Pulmonary hypertension with left heart disease

78

10

3.

Pulmonary hypertension associated with lung disease and/or hypoxemia (not COPD)

32

9

3.1

Pulmonary hypertension associated with COPD

6

3

4.

Pulmonary hypertension due to chronic thrombotic and/or embolic disease

30

11

Non affected family members

400

309

Undifferentiated diagnosis

31

22

DNA collected but diagnosis not yet confirmed

177

174

 

n=1201

n=882

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

COMMENTSThe Utah PH Genetics Project database continues to support ongoing pulmonary hypertension research.