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Results 1 - 7 of 7 for Aortic valve disease 3
  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. Critical congenital heart disease 
    ... mutations in histone-modifying genes in congenital heart disease. Nature. 2013 Jun 13;498(7453):220-3. doi: 10.1038/nature12141. Epub 2013 May 12. Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/.../critical-congenital-heart-disease - Genetics