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Results 1 - 8 of 8 for Heart valve
  1. FLNA gene 
    ... valvular dysplasia, a condition characterized by abnormally thick heart valves. Most of these variants change single amino acids ... and close normally.It is unclear why the heart valves are the only tissue affected by these FLNA ...
    https://medlineplus.gov/genetics/gene/flna - Genetics
  2. EFEMP2 gene 
    ... rich in elastic fibers, including the blood vessels, heart valves, lungs, and skin. At least six variants (also known as mutations) in the EFEMP2 gene have been identified in people with cutis ... involving the heart and blood vessels.Variants in the EFEMP2 gene ...
    https://medlineplus.gov/genetics/gene/efemp2 - Genetics
  3. FBLN5 gene 
    ... in elastic fibers, including developing arteries and the heart valves, lungs, and skin. Researchers have been studying FBLN5 ...
    https://medlineplus.gov/genetics/gene/fbln5 - Genetics
  4. NOTCH1 gene 
    ... the valve that connects the aorta to the heart (the aortic valve). The aorta is the large blood vessel that distributes blood from the heart to the rest of the body. The aortic valve normally has three flaps, or cusps, that open ...
    https://medlineplus.gov/genetics/gene/notch1 - Genetics
  5. IFIH1 gene 
    ... of the body (the aorta) and in certain valves in the heart. Other signs and symptoms include tooth abnormalities, low ...
    https://medlineplus.gov/genetics/gene/ifih1 - Genetics
  6. COL1A2 gene 
    ... rare condition is characterized by abnormalities of the valves in the heart, highly stretchy (elastic) skin, and joint hypermobility. The ...
    https://medlineplus.gov/genetics/gene/col1a2 - Genetics
  7. SMAD4 gene 
    ... be life-threatening. Impaired functioning of the mitral valve, which connects two of the four chambers of the heart, has also been seen in combination with juvenile ...
    https://medlineplus.gov/genetics/gene/smad4 - Genetics
  8. FBN1 gene 
    ... body, including the mitral valve (one of the valves that controls blood flow through the heart), the aorta (a large blood vessel that distributes blood from the heart to the rest of the body), the skeleton, and the skin.It is unknown ... Association of mitral valve prolapse and systemic abnormalities of connective tissue. A ...
    https://medlineplus.gov/genetics/gene/fbn1 - Genetics