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| {{Infobox disease
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| | Name = Bicuspid aortic valve
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| | Image =
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| | Caption =
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| | DiseasesDB = 1392
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| | ICD10 =
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| | ICD9 = {{ICD9|746.4}}
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| | ICDO =
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| | OMIM = 109730
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| | MedlinePlus = 007325
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| | eMedicineSubj = ped
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| | eMedicineTopic = 2486
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| | MeshID =
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| }}
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| A '''bicuspid aortic valve''' (BAV) is most commonly a congenital condition of the [[aortic valve]] where two of the aortic valvular leaflets fuse during development resulting in a valve that is bicuspid instead of the normal tricuspid configuration. Normally the only cardiac valve that is bicuspid is the [[mitral valve]] (bicuspid valve) which is situated between the [[left atrium]] and [[left ventricle]]. Cardiac valves play a crucial role in ensuring the unidirectional flow of blood from the atrium to the ventricles, or the ventricle to the aorta or pulmonary trunk.
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| ==Incidence/prevalence==
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| [[File:Heart bicuspid aortic valve.svg|thumb|500px|Heart bicuspid aortic valve anatomy.]]
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| Bicuspid aortic valves are the most common cardiac valvular anomaly, occurring in 1–2% of the general population. It is twice as common in males as in females.<ref name="pmid18799444">{{cite journal |author=Tzemos N |title=Outcomes in adults with bicuspid aortic valves |journal=JAMA |volume=300 |issue=11 |pages=1317–1325 |date=September 2008 |pmid=18799444 |doi=10.1001/jama.300.11.1317 |url=http://jama.ama-assn.org/cgi/pmidlookup?view=long&pmid=18799444 |author-separator=, |author2=Therrien J |author3=Yip J |display-authors=3 |last4=Thanassoulis |first4=G. |last5=Tremblay |first5=S. |last6=Jamorski |first6=M. T. |last7=Webb |first7=G. D. |last8=Siu |first8=S. C.}}</ref>
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| Bicuspid aortic valve is an inheritable condition, with a demonstrated association with [[Notch 1]].<ref name="pmid16025100">{{cite journal |author=Garg V |title=Mutations in NOTCH1 cause aortic valve disease |journal=Nature |volume=437 |issue=7056 |pages=270–274 |year=2005 |pmid=16025100 |doi=10.1038/nature03940 |author-separator=, |author2=Muth AN |author3=Ransom JF |display-authors=3 |last4=Schluterman |first4=Marie K. |last5=Barnes |first5=Robert |last6=King |first6=Isabelle N. |last7=Grossfeld |first7=Paul D. |last8=Srivastava |first8=Deepak}}</ref> Its [[heritability]] (<math>h^2</math>) is as high as 89%.<ref name=inheritability>{{cite journal|last=Cripe|first=Linda|coauthors=Gregor Andelfinger, Lisa J. Martin, Kerry Shooner, D. Woodrow Benson|title=Bicuspid aortic valve is heritable|journal=J Am Coll Cardiol.|date=July 2004|year=2004|volume=44|issue=1|pages=138–143|doi=10.1016|url=http://content.onlinejacc.org/article.aspx?articleid=1135734|accessdate=11 August 2013}}</ref> Both familial clustering and isolated valve defects have been documented. The incidence of bicuspid aortic valve can be as high as 10% in families affected with the valve problem. Recent studies suggest that BAV is an autosomal dominant condition with incomplete penetrance. Other congenital heart defects are associated with bicuspid aortic valve at various frequencies, including [[coarctation of the aorta]].<ref>{{cite book|last=Chhabra|first=Anikar|title=Pathology Recall|year=2002|publisher=LWW}}</ref>
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| ==Classification==
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| Bicuspid aortic valves may assume three different types of configuration:<ref>{{cite book|last=Kumme|first=anja|title=Klassifikation bikuspider Aortenklappen|year=2007}}</ref>
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| # "Real" bicuspid valves with two symmetric leaflets
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| # A tricuspid architecture with a fusion of two leaflets
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| ==Presentation==
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| In many cases, a bicuspid aortic valve will cause no problems.<ref>{{cite web |url=http://www.americanheart.org/presenter.jhtml?identifier=991 |title=Ask the Pediatric Cardiologist - Bicuspid Aortic Valve |accessdate=2007-08-08 |format= |work=| archiveurl= http://web.archive.org/web/20070926215735/http://www.americanheart.org/presenter.jhtml?identifier=991| archivedate= 26 September 2007 <!--DASHBot-->| deadurl= no}}</ref> However BAV may become calcified later in life, which may lead to varying degrees of severity of [[aortic stenosis]] that will manifest as [[heart murmur|murmur]]s. If the leaflets do not close correctly, [[Aortic insufficiency|aortic regurgitation]] can occur. If these become severe enough, they may require heart surgery. People with BAV may become tired more easily than those with normal valvular function and have difficulty maintaining stamina for cardio-intensive activities-due to poor heart performance. The heart is put under more stress in order to either pump more blood through a stenotic valve or attempt to circulate regurgitation blood through a leaking valve.
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| ==Diagnosis, treatment, and prognosis==
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| [[File:Heart bicuspid aortic lpla.svg|thumb|300px|Heart bicuspid aortic valve diagram]]
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| The condition can be associated with a [[heart murmur]] located at the right second intercostal space. Often there will be differences in blood pressures between upper and lower extremities. The diagnosis can be assisted with [[echocardiography]] (EchoCG) or [[magnetic resonance imaging]] (MRI).
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| Most patients with bicuspid aortic valve whose valve becomes dysfunctional will need careful follow-up and potentially valve replacement at some point in life. Regular EchoCG and MRI may be performed. For diagnosed patients, genetic testing is done to allow for future offspring with the disease to be monitored and treated early in life.
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| Patients with bicuspid aortic valve should be followed by a cardiologist or cardiac surgeon with specific interest in this valve pathology.
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| If the valve is normally functioning or minimally dysfunctional, average lifespan is similar to that of those without the anomaly.<ref name="pmid18506017">{{cite journal |author=Michelena HI |title=Natural history of asymptomatic patients with normally functioning or minimally dysfunctional bicuspid aortic valve in the community |journal=Circulation |volume=117 |issue=21 |pages=2776–2784 |date=May 2008 |pmid=18506017 |doi=10.1161/CIRCULATIONAHA.107.740878 |url=http://circ.ahajournals.org/cgi/pmidlookup?view=long&pmid=18506017 |pmc=2878133 |author-separator=, |author2=Desjardins VA |author3=Avierinos JF |display-authors=3 |last4=Russo |first4=A. |last5=Nkomo |first5=V. T. |last6=Sundt |first6=T. M. |last7=Pellikka |first7=P. A. |last8=Tajik |first8=A. J. |last9=Enriquez-Sarano |first9=M.}}</ref>
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| ==Aorta complications==
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| One of the most notable associations with BAV is the tendency for these patients to present with ascending aortic aneurysmal lesions.
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| The extracellular matrix of the aorta in patients with BAV shows marked deviations from that of the normal tricuspid aortic valve.
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| It is currently believed that an increase in the ratio of MMP2 (Matrix Metalloproteinases 2) to TIMP1 (Tissue Inhibitor Metalloproteinases 1) may be responsible for the abnormal degradation of the valve matrix and therefore lead to aortic dissection and aneurysm. However, other studies have also shown MMP9 involvement with no differences in TIMP expression. The size of the proximal aorta should be evaluated carefully during the work-up. The initial diameter of the aorta should be noted and annual evaluation with [[CT scan]], or [[MRI]] to avoid ionizing radiation, should be recommended to the patient; the examination should be conducted more frequently if a change in aortic diameter is seen. From this monitoring, the type of surgery that should be offered to the patient can be determined based on the change in size of the aorta.
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| Co-arctation of the aorta (a congenital narrowing in the region of the ductus arteriosus) has also been associated with BAV.<ref>{{cite journal|last=Rison|first=SC|coauthors=Locke, TP; Rosenthal, E; Gandhi, S|title=A man with hypertension and two murmurs.|journal=BMJ (Clinical research ed.)|date=Feb 15, 2012|volume=344|pages=e956|pmid=22337753}}</ref>
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| ==References==
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| {{reflist|2}}
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| ==External links==
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| * [http://bicuspidfoundation.com/ Bicuspid Aortic Foundation Homepage]
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| * [http://www.csmc.edu/3893.html Cedars Sinai Heart Center - Bicuspid Aortic Disease]
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| * [http://www.bicuspidaorticvalve.org/ Bicuspid Aortic Valve Discussion Board]
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| {{Congenital malformations and deformations of circulatory system}}
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| {{DEFAULTSORT:Bicuspid Aortic Valve}}
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| [[Category:Diseases of the aorta]]
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| [[Category:Congenital heart disease]]
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