Supravalvular aortic stenosis
Dernière mise à jour 24 Feb 2022
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Supravalvular aortic stenosis (SVAS) is a heart defect that develops before birth. This defect is a narrowing (stenosis) of the large blood vessel that carries blood from the heart to the rest of the body (the aorta). The condition is described as supravalvular because the section of the aorta that is narrowed is located just above the valve that connects the aorta with the heart (the aortic valve). Some people with SVAS also have defects in other blood vessels, most commonly stenosis of the artery from the heart to the lungs (the pulmonary artery). An abnormal heart sound during a heartbeat (heart murmur) can often be heard during a chest exam. If SVAS is not treated, the aortic narrowing can lead to shortness of breath, chest pain, and ultimately heart failure.
Description
Supravalvular aortic stenosis (SVAS) is a heart defect that develops before birth. This defect is a narrowing (stenosis) of the large blood vessel that carries blood from the heart to the rest of the body (the aorta). The condition is described as supravalvular because the section of the aorta that is narrowed is located just above the valve that connects the aorta with the heart (the aortic valve). Some people with SVAS also have defects in other blood vessels, most commonly stenosis of the artery from the heart to the lungs (the pulmonary artery). An abnormal heart sound during a heartbeat (heart murmur) can often be heard during a chest exam. If SVAS is not treated, the aortic narrowing can lead to shortness of breath, chest pain, and ultimately heart failure.
The severity of SVAS varies considerably, even among family members. Some affected individuals die in infancy, while others never experience symptoms of the disorder.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
Aortic stenosis, supravalvular
Stenosis, aortic supravalvular
Stenosis, supravalvular aortic
Supravalvar aortic stenosis
Supravalvular stenosis, aortic
SVAS
Related patient information and medicines
Patient information leaflet
Sténose aortique
The aortic valve is a heart valve that lies between the left ventricle and the aorta. In aortic stenosis, when the aortic valve opens to let blood pump through, it does not open as widely as it would normally. The opening between the... What is aortic stenosis. Aortic stenosis is a narrowing of the aortic valve which is the valve between the left.
Patient information leaflet
Maladie cardiaque congénitale
Congenital heart disease is a condition where an abnormality (defect) develops in the heart before birth. There are a number of types of congenital heart defect. Some are mild and cause few problems; others are life-threatening for the baby. Blockage of blood flow at or near the valves of the heart ca... Valves may be abnormally shaped or narrowed.
Patient information leaflet
Régurgitation aortique
Aortic regurgitation is sometimes called aortic incompetence or a leaky aortic valve. In aortic regurgitation the valve does not close properly. The aortic valve is a heart valve that lies between the left ventricle and the aorta. Therefore, blood leaks back (regurgitates) into the left ventricle from the aorta. In some cases, aortic regurgitation.
Patient information leaflet
Maladie des valves cardiaques
Heart valves sit in between the chambers of the heart and control the blood flow through the heart. There are four common types of heart valve problem - mitral stenosis, mitral regurgitation , sténose aortique et aortic regurgitation. The leaflet called Anatomy of the heart includes details about the function du heart and how the heart beats..
Patient information leaflet
Dissection aortique
An aortic dissection est a rare, serious condition. The inner layer of the aorta (the biggest blood vessel in the body, coming directly from the heart) tears. Blood then surges through the tear. A severe injury to the chest may also cause aortic dissection. Aortic stenosis , previous cardiac surgery, having a history of aortic diseases in your.
Patient information leaflet
Puis-je prendre l'Amlodipine et la Quétiapine ensemble ?
Severe liver disease Amlodipine is broken down very slowly by the liver; if you have liver problems, the dose must be adjusted carefully to avoid toxic build-up... Severe heart disease (Aortic Stenosis) Amlodipine should be used with extreme caution if you have narrowing of the aortic heart valve (aortic stenosis), as it can cause a dangerous drop.
Lectures complémentaires et références
- Supravalvular aortic stenosis; MedlinePlus, National Library of Medicine.
- Metcalfe K, Rucka AK, Smoot L, Hofstadler G, Tuzler G, McKeown P, Siu V, Rauch A, Dean J, Dennis N, Ellis I, Reardon W, Cytrynbaum C, Osborne L, Yates JR, Read AP, Donnai D, Tassabehji M. Elastin: mutational spectrum in supravalvular aortic stenosis. Eur J Hum Genet. 2000 Dec;8(12):955-63. doi: 10.1038/sj.ejhg.5200564.
- Micale L, Turturo MG, Fusco C, Augello B, Jurado LA, Izzi C, Digilio MC, Milani D, Lapi E, Zelante L, Merla G. Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis. Eur J Hum Genet. 2010 Mar;18(3):317-23. doi: 10.1038/ejhg.2009.181. Epub 2009 Oct 21.
- Rodriguez-Revenga L, Badenas C, Carrio A, Mila M. Elastin mutation screening in a group of patients affected by vascular abnormalities. Pediatr Cardiol. 2005 Nov-Dec;26(6):827-31. doi: 10.1007/s00246-005-0885-8.
- Tassabehji M, Urban Z. Congenital heart disease: Molecular diagnostics of supravalvular aortic stenosis. Methods Mol Med. 2006;126:129-56. doi: 10.1385/1-59745-088-X:129.
- Urban Z, Riazi S, Seidl TL, Katahira J, Smoot LB, Chitayat D, Boyd CD, Hinek A. Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome. Am J Hum Genet. 2002 Jul;71(1):30-44. doi: 10.1086/341035. Epub 2002 May 6.
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