Abstract：
:Noonan syndrome is an autosomal dominant disease that manifests a wide variety of clinical characteristics. The syndrome is also associated with some cardiac defects. Half of all Noonan syndrome cases are caused by mutations in the PTPN11 gene, but only limited data are available regarding aortic involvement in these cases. No reports exist regarding PTPN11 mutations in association with both aortic dilation and hypertrophic cardiomyopathy. We describe an 8-year-old girl who had Noonan syndrome involving a PTPN11 mutation, hypertrophic cardiomyopathy, main pulmonary artery dilation, and aortic root dilation. To our knowledge, this is the first case in which all three of these cardiovascular features have been observed in a single patient with Noonan syndrome.
journal_name
Pediatr Cardioljournal_title
Pediatric cardiologyauthors
Jefferies JL,Belmont JW,Pignatelli R,Towbin JA,Craigen WJdoi
10.1007/s00246-009-9537-8subject
Has Abstractpub_date
2010-01-01 00:00:00pages
114-6issue
1eissn
0172-0643issn
1432-1971journal_volume
31pub_type
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更新日期：2005-07-01 00:00:00
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