Linked Life Data

17318011

Source:http://linkedlifedata.com/resource/pubmed/id/17318011

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2007-2-23
pubmed:abstractText
Familial pulmonary arterial hypertension (FPAH) was first described more than 50 years ago. Before the availability of modern genetic tools, studies of the genealogies demonstrated that these cases segregated as an autosomic dominant trait, with an incomplete penetrance and a genetic anticipation phenomenon by which age at onset of the disease is decreasing in the subsequent generations. Germline mutations in the gene coding for the bone morphogenetic protein receptor II (BMPR2) are present in more than 70% of FPAH and up to 26% of idiopathic, apparently sporadic cases (IPAH). Incomplete penetrance (around 20%) is a major pitfall because FPAH becomes ignored when the disease skips one or several generations. Genetic counseling is complex, with a significant number of BMPR2 mutation healthy carriers screened in some families. Incomplete penetrance puts them in the anxious situation of being potentially affected in the future by this devastating condition or to transmit this risk to their offspring. Nevertheless, genetic testing and counseling is about to become a standard in the management of PAH. Recent international guidelines on PAH state that genetic testing is recommended in FPAH and that IPAH patients have to be informed about the availability of such testing.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0025-7931
pubmed:author
pubmed:issnType
Print
pubmed:volume
74
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
123-32
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
Genes and pulmonary arterial hypertension.
pubmed:affiliation
UPRES EA2705, INSERM U764, IFR13, Service de Pneumologie et Réanimation Respiratoire, Centre National de Référence de l'Hypertension Artérielle Pulmonaire, Hôpital Antoine-Béclère, Université Paris-Sud, Clamart, France. benjamin.sztrymf@abc.aphp.fr
pubmed:publicationType
Journal Article, Review