Document Detail


Genetic counselling for pulmonary arterial hypertension: a matter of variable variability.
MedLine Citation:
PMID:  22020945     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
We report three cases which highlight the complex considerations surrounding genetic counselling for pulmonary arterial hypertension (PAH). The first counselee developed PAH symptoms shortly after his daughter's death from PAH and was diagnosed with a delay of 1 year. An early diagnosis of familial PAH was established in the second counselee. Oral therapy was initiated immediately, and her functional status has since remained stable. The third counselee was a healthy woman who struggled to cope with her risk for familial PAH, having lost two siblings from the disease. These cases show that incomplete penetrance and variable expression need particular attention during clinical assessment and genetic counselling of heritable PAH patients and family members.
Authors:
E M Leter; A B Boonstra; F B Postma; J J P Gille; E J Meijers-Heijboer; A Vonk Noordegraaf
Related Documents :
18651025 - Coronary artery anomalies: anomalous origin of the left coronary artery and circumflex ...
1595945 - Anomalous septal perforator artery: a source for supportive circulation in severe coron...
18498845 - Repair of anomalous origin of right coronary artery from the left sinus of valsalva.
15452665 - Detection, visualization and evaluation of anomalous coronary anatomy on 16-slice multi...
16243115 - Effects of resveratrol on vascular tone and endothelial function of human saphenous vei...
9190695 - Giant posterior cerebral artery aneurysm in a 4-year-old child: case report.
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation     Volume:  19     ISSN:  1876-6250     ISO Abbreviation:  Neth Heart J     Publication Date:  2011 Feb 
Date Detail:
Created Date:  2011-10-24     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101095458     Medline TA:  Neth Heart J     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  89-92     Citation Subset:  -    
Affiliation:
Department of Clinical Genetics, VU University Medical Centre, PO Box 7057, 1007, MB, Amsterdam, the Netherlands, em.leter@vumc.nl.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Symptomatic pectus excavatum in seniors (SPES): a cardiovascular problem? : A prospective cardiologi...
Next Document:  Balloon occlusion of the right main bronchus in an ovine model provides sufficient time for emergent...