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Results 1 - 10 of 19 for Pulmonary valve disorder
  1. Noonan syndrome 
    ... blood flow from the heart to the lungs (pulmonary valve stenosis). Some have hypertrophic cardiomyopathy, which enlarges and weakens the heart muscle.A variety of bleeding disorders have been associated with Noonan syndrome. Some affected ...
    https://medlineplus.gov/genetics/condition/noonan-syndrome - Genetics
  2. Pulmonary alveolar microlithiasis 
    ... 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 ...
    https://medlineplus.gov/.../pulmonary-alveolar-microlithiasis - Genetics
  3. FBLN5 gene 
    ... elastic fibers, including developing arteries and the heart valves, lungs, and skin. Researchers have been studying FBLN5 gene variants (also called mutations) as a possible risk factor for age-related macular degeneration, an eye disease that is a leading cause of vision loss ...
    https://medlineplus.gov/genetics/gene/fbln5 - Genetics
  4. EFEMP2 gene 
    ... 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 laxa. EFEMP2 variants cause a form of the disorder called autosomal recessive cutis laxa type 1B (ARCL1B), ...
    https://medlineplus.gov/genetics/gene/efemp2 - Genetics
  5. Cardiofaciocutaneous syndrome 
    ... condition include malformations of one of the heart valves that impairs blood flow from the heart to the lungs (pulmonic stenosis), a hole between the two upper chambers of the heart (atrial septal defect), and a form of heart disease that enlarges and weakens the heart muscle (hypertrophic ...
    https://medlineplus.gov/.../condition/cardiofaciocutaneous-syndrome - Genetics
  6. NOTCH1 gene 
    ... protein TAN-1 Tests of NOTCH1 PubMed AORTIC VALVE DISEASE 1; AOVD1 LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL NOTCH RECEPTOR ... Novel NOTCH1 mutations in patients with bicuspid aortic valve disease and thoracic aortic aneurysms. J Thorac Cardiovasc Surg. ...
    https://medlineplus.gov/genetics/gene/notch1 - Genetics
  7. Myhre syndrome 
    ... filling the lungs with air when inhaling (restrictive pulmonary disease); or widespread lung damage (interstitial lung disease). These respiratory tract problems can be life-threatening. ...
    https://medlineplus.gov/genetics/condition/myhre-syndrome - Genetics
  8. FLNA gene 
    ... review of filamin A mutations and associated interstitial lung disease. Eur J Pediatr. 2019 Feb;178(2):121- ... FLNA) mutation-A newcomer to the childhood interstitial lung disease (ChILD) classification. Pediatr Pulmonol. 2017 Oct;52(10): ...
    https://medlineplus.gov/genetics/gene/flna - Genetics
  9. SLC34A2 gene 
    ... These deposits eventually cause widespread lung damage (interstitial lung disease) that leads to breathing problems.SLC34A2 gene mutations ... U. SLC34A2 gene mutation may explain comorbidity of pulmonary alveolar microlithiasis and aortic valve sclerosis. Am J Respir Crit Care Med. 2012 ...
    https://medlineplus.gov/genetics/gene/slc34a2 - Genetics
  10. Retinal arterial macroaneurysm with supravalvular pulmonic stenosis 
    ... stenosis is a narrowing that affects the pulmonic valve between the heart and the lungs. The term "supravalvular" means that the narrowing occurs just above the valve, in a blood vessel called the pulmonary artery. Supravalvular pulmonic stenosis impairs blood flow into ...
    https://medlineplus.gov/...rysm-with-supravalvular-pulmonic-stenosis - Genetics
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