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Results 1 - 10 of 12 for Aortic valve disease 1
  1. NOTCH1 gene 
    ... notch protein TAN-1 Tests of NOTCH1 PubMed AORTIC VALVE DISEASE 1; AOVD1 LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL NOTCH RECEPTOR 1; ...
    https://medlineplus.gov/genetics/gene/notch1 - Genetics
  2. X-linked cardiac valvular dysplasia 
    ... Developmental basis for filamin-A-associated myxomatous mitral valve disease. Cardiovasc Res. 2012 Oct 1;96(1):109-19. doi: 10.1093/cvr/cvs238. Epub 2012 Jul 25. Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/.../x-linked-cardiac-valvular-dysplasia - Genetics
  3. SMAD4 gene 
    ... AM, Ryan DP, Toler TL, Lin AE. Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations. Am J Med Genet A. 2013 Jan;161A(1):185-91. doi: 10.1002/ajmg.a.35659. ...
    https://medlineplus.gov/genetics/gene/smad4 - Genetics
  4. Pulmonary alveolar microlithiasis 
    ... deposits, such as a narrowing (stenosis) of the aortic valve that can impede normal blood flow. Pulmonary alveolar microlithiasis is a rare disorder; its prevalence is unknown. More than 1,000 affected individuals have been described in the ...
    https://medlineplus.gov/.../pulmonary-alveolar-microlithiasis - Genetics
  5. Supravalvular aortic stenosis 
    ... on PubMed 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. Citation on PubMed Urban ...
    https://medlineplus.gov/.../condition/supravalvular-aortic-stenosis - Genetics
  6. Gaucher disease 
    ... it primarily affects the heart, causing the heart valves to harden (calcify). People with the cardiovascular form of Gaucher disease may also have eye abnormalities, bone disease, and mild enlargement of the spleen (splenomegaly). Gaucher disease occurs in 1 in 50,000 to 100,000 people in ...
    https://medlineplus.gov/genetics/condition/gaucher-disease -
  7. 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
  8. SLC34A2 gene 
    ... Am J Respir Crit Care Med. 2007 Feb 1;175(3):263-8. doi: ... microlithiasis and aortic valve sclerosis. Am J Respir Crit Care Med. 2012 ...
    https://medlineplus.gov/genetics/gene/slc34a2 - Genetics
  9. 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
  10. Critical congenital heart disease 
    ... NORD) ClinicalTrials.gov TOTAL ANOMALOUS PULMONARY VENOUS RETURN 1; TAPVR1 COARCTATION OF AORTA EBSTEIN ANOMALY PULMONARY ATRESIA WITH VENTRICULAR SEPTAL DEFECT ...
    https://medlineplus.gov/.../critical-congenital-heart-disease - Genetics
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