Document Detail

Genetic counselling for pulmonary arterial hypertension: a matter of variable variability.
MedLine Citation:
PMID:  22020945     Owner:  NLM     Status:  In-Data-Review    
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.
E M Leter; A B Boonstra; F B Postma; J J P Gille; E J Meijers-Heijboer; A Vonk Noordegraaf
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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:  -    
Department of Clinical Genetics, VU University Medical Centre, PO Box 7057, 1007, MB, Amsterdam, the Netherlands,
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