Difference between revisions of "Heart valves"
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(→Biscupid aortic valve: more) |
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**NOTCH1 gene - implicated.<ref name=pmid16025100>{{Cite journal | last1 = Garg | first1 = V. | last2 = Muth | first2 = AN. | last3 = Ransom | first3 = JF. | last4 = Schluterman | first4 = MK. | last5 = Barnes | first5 = R. | last6 = King | first6 = IN. | last7 = Grossfeld | first7 = PD. | last8 = Srivastava | first8 = D. | title = Mutations in NOTCH1 cause aortic valve disease. | journal = Nature | volume = 437 | issue = 7056 | pages = 270-4 | month = Sep | year = 2005 | doi = 10.1038/nature03940 | PMID = 16025100 }}</ref> | **NOTCH1 gene - implicated.<ref name=pmid16025100>{{Cite journal | last1 = Garg | first1 = V. | last2 = Muth | first2 = AN. | last3 = Ransom | first3 = JF. | last4 = Schluterman | first4 = MK. | last5 = Barnes | first5 = R. | last6 = King | first6 = IN. | last7 = Grossfeld | first7 = PD. | last8 = Srivastava | first8 = D. | title = Mutations in NOTCH1 cause aortic valve disease. | journal = Nature | volume = 437 | issue = 7056 | pages = 270-4 | month = Sep | year = 2005 | doi = 10.1038/nature03940 | PMID = 16025100 }}</ref> | ||
Significance: | |||
*Associated with ascending [[aortic aneurysm]]s - x10 risk of [[aortic dissection]] vs. normal population.<ref name=pmid18514024/> | *Associated with ascending [[aortic aneurysm]]s - x10 risk of [[aortic dissection]] vs. normal population.<ref name=pmid18514024/> | ||
*30% develop serious morbidity.<ref name=pmid18514024/> | *30% develop serious morbidity.<ref name=pmid18514024/> | ||
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Features - either: | Features - either: | ||
#Raphe does not reach the free margin of the cusp. | #Raphe does not reach the free margin of the cusp. | ||
#No raphe - uncommon.<ref name=pmid9987528>{{Cite journal | last1 = Sabet | first1 = HY. | last2 = Edwards | first2 = WD. | last3 = Tazelaar | first3 = HD. | last4 = Daly | first4 = RC. | title = Congenitally bicuspid aortic valves: a surgical pathology study of 542 cases (1991 through 1996) and a literature review of 2,715 additional cases. | journal = Mayo Clin Proc | volume = 74 | issue = 1 | pages = 14-26 | month = Jan | year = 1999 | doi = 10.4065/74.1.14 | PMID = 9987528 }}</ref> | #No raphe - uncommon (~7% of cases).<ref name=pmid9987528>{{Cite journal | last1 = Sabet | first1 = HY. | last2 = Edwards | first2 = WD. | last3 = Tazelaar | first3 = HD. | last4 = Daly | first4 = RC. | title = Congenitally bicuspid aortic valves: a surgical pathology study of 542 cases (1991 through 1996) and a literature review of 2,715 additional cases. | journal = Mayo Clin Proc | volume = 74 | issue = 1 | pages = 14-26 | month = Jan | year = 1999 | doi = 10.4065/74.1.14 | PMID = 9987528 }}</ref> | ||
Note: | Note: | ||
*Raphe | *''Raphe'' comes from the Greek word ''suture''.<ref>URL: [http://dictionary.reference.com/browse/raphe http://dictionary.reference.com/browse/raphe]. Accessed on: 25 February 2012.</ref> | ||
==Tumours== | ==Tumours== | ||