| A novel BMPR2 gene mutation associated with exercise-induced pulmonary hypertension in septal defects. | |
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MedLine Citation:
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PMID: 21070126 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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OBJECTIVE: Our study aimed to investigate the relationship between exercise-induced pulmonary arterial hypertension and genetic changes related to the transforming growth factor-β (TGF-β) signalling pathway in patients with cardiac septal defects. DESIGN: In a population-based group of 44 patients (age 13-25 years) with either isolated ventricular septal defect (n=27) or isolated atrial septal defect (n=17), right ventricular systolic pressure response to submaximal exercise was studied by echocardiography and classified as normal (≤45 mmHg), borderline (45-50 mmHg) or abnormal (>50 mmHg). Three genes related to TGF-β, bone morphogenetic protein receptor type 2 (BMPR2), activin receptor-like kinase 1 (ALK1) and endoglin (ENG), were analyzed by DNA sequencing (only BMPR2) and multiplex ligand-dependent probe amplification (BMPR2, ALK1 and ENG). RESULTS: Pressure response was borderline in five and abnormal in nine patients. Five patients showed mutations in exon 12 of the bone morphogenetic protein receptor type 2 gene. The previously described polymorphism S775N (c. 2324, G > A) was found in three patients with normal pressure response. The mutation Y589C (c. 1766, A > G), which has not been described previously, was found in two of 14 patients with borderline/abnormal pressure response. CONCLUSION: Genetic changes in the BMPR2 gene may be overrepresented in patients with cardiac septal defects and exercise-induced pulmonary hypertension. |
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Authors:
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Thomas Möller; Trond P Leren; Kristin L Eiklid; Henrik Holmstrøm; Per Morten Fredriksen; Erik Thaulow |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2010-11-11 |
Journal Detail:
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Title: Scandinavian cardiovascular journal : SCJ Volume: 44 ISSN: 1651-2006 ISO Abbreviation: Scand. Cardiovasc. J. Publication Date: 2010 Dec |
Date Detail:
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Created Date: 2010-11-18 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9708377 Medline TA: Scand Cardiovasc J Country: England |
Other Details:
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Languages: eng Pagination: 331-6 Citation Subset: IM |
Affiliation:
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Pediatric Department, Vestfold Hospital Trust, Tønsberg, Norway. thomas.moller@siv.no |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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