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Results 1 - 10 of 12 for Aortic valve disease 3
  1. NOTCH1 gene 
    ... and neck cancer. Head Neck. 2013 Mar;35(3):454-63. doi: 10.1002/hed.23100. ... aortic valve disease and thoracic aortic aneurysms. J Thorac Cardiovasc Surg. ...
    https://medlineplus.gov/genetics/gene/notch1 - Genetics
  2. Gaucher disease 
    ... B, Clark B, Lichtin A. Severe valvular and aortic arch calcification in a patient with Gaucher's disease homozygous for the D409H mutation. Clin Genet. 2001 May;59(5):360-3. doi: 10.1034/j.1399-0004.2001.590511. ...
    https://medlineplus.gov/genetics/condition/gaucher-disease - Genetics
  3. Polycystic kidney disease 
    ... recurrent urinary tract infections, kidney stones, and heart valve abnormalities. Additionally, people with polycystic kidney disease have an increased risk of an abnormal bulging (an aneurysm) in a large blood vessel called the aorta or in blood vessels at the base of ...
    https://medlineplus.gov/genetics/condition/polycystic-kidney-disease - Genetics
  4. SLC34A2 gene 
    ... Respir Crit Care Med. 2007 Feb 1;175(3):263-8. doi: 10.1164/rccm.200609-1274OC. ... microlithiasis and aortic valve sclerosis. Am J Respir Crit Care Med. 2012 ...
    https://medlineplus.gov/genetics/gene/slc34a2 - Genetics
  5. X-linked cardiac valvular dysplasia 
    ... two left chambers of the heart, or the aortic valve, which regulates blood flow from the heart into the large artery called the aorta. Valve regurgitation forces the heart to pump harder to ...
    https://medlineplus.gov/.../x-linked-cardiac-valvular-dysplasia - Genetics
  6. SMAD4 gene 
    ... vessel wall (an aneurysm), or may cause the aortic valve to leak, which can result in a sudden ... AM, Ryan DP, Toler TL, Lin AE. Thoracic aortic disease in two patients with juvenile polyposis syndrome and ...
    https://medlineplus.gov/genetics/gene/smad4 - Genetics
  7. Marfan syndrome 
    ... aneurysm). Stretching of the aorta may cause the aortic valve to leak, which can lead to a sudden ... blood flow from the heart into the aorta (aortic valve regurgitation). Leaks in these valves can cause shortness ...
    https://medlineplus.gov/genetics/condition/marfan-syndrome - Genetics
  8. Pulmonary alveolar microlithiasis 
    ... vessel called the aorta with the heart (the aortic valve). In rare cases, affected individuals have complications related ... deposits, such as a narrowing (stenosis) of the aortic valve that can impede normal blood flow. Pulmonary alveolar ...
    https://medlineplus.gov/.../pulmonary-alveolar-microlithiasis - Genetics
  9. Supravalvular aortic stenosis 
    ... that connects the aorta with the heart (the aortic valve). Some people with SVAS also have defects in ... on PubMed Tassabehji M, Urban Z. Congenital heart disease: Molecular diagnostics of supravalvular aortic stenosis. Methods Mol Med. 2006;126:129-56. ...
    https://medlineplus.gov/.../condition/supravalvular-aortic-stenosis - Genetics
  10. IFIH1 gene 
    ... heart to the rest of the body (the aorta) and in certain valves in the heart. Other signs and symptoms include ...
    https://medlineplus.gov/genetics/gene/ifih1 - Genetics
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