Format

Send to

Choose Destination
See comment in PubMed Commons below
Clin Chest Med. 2001 Sep;22(3):477-91, ix.

Genetics of primary pulmonary hypertension.

Author information

1
Division of Allergy, Pulmonary and Critical Care Medicine, Center for Lung Research, Vanderbilt University School of Medicine, Nashville, Tennessee, USA. alan.thomas@mcmail.vanderbilt.edu

Abstract

Familial primary pulmonary hypertension (FPPH) is a well described clinical entity in which the disease occurs in at least two first degree relatives. It is clinically and pathologically indistinguishable from sporadic PPH. Mutations in the gene which encodes bone morphogenetic receptor 2 have recently been discovered in familial and sporadic PPH. This review discusses the basic clinical and genetic features of FPPH, and describes the research that led to the discovery of the disease-causing gene. Potential mechanisms of disease are also discussed, as well as implications for future investigations.

PMID:
11590842
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Loading ...
    Support Center