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1,049 results
  1. Hutchinson-Gilford Progeria Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1121
    ... with hypertension that is often labile. Mitral and aortic valve abnormalities, including calcification, stenosis, and regurgitation, usually develop in ...
  2. 16p11.2 Recurrent Microdeletion - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK11167
    ... monozygotic twins with seizures, mild intellectual disability, and aortic valve abnormalities [ Ghebranious et al 2007 ]. Clinical follow-up data ...
  3. Loeys-Dietz Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1133
    ... and an increased incidence of renal and cardiovascular abnormalities. The latter include bicuspid aortic valve (BAV), coarctation of the aorta, and thoracic aortic ...
  4. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... artery that leaves the heart (coarctation of the aorta) or abnormalities of the valve that connects the aorta to the heart (the aortic valve). Complications associated ...
  5. Turner syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/turner-syndrome
    ... artery that leaves the heart ( coarctation of the aorta ) or abnormalities of the valve that connects the aorta to the heart (the aortic valve). Complications associated ...
  6. Classic Ehlers-Danlos Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1244
    ... is recommended. Yearly echocardiogram is warranted if an abnormality such as aortic dilatation or mitral valve prolapse is present. Agents/Circumstances to Avoid The ...
  7. EZH2-Related Overgrowth - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK148820
    ... myopia & lens dislocation) Cardiovascular findings (dilatation of the aorta; mitral & tricuspid valve prolapse) Pectus abnormalities common Congenital contractural arachnodactyly (CCA; Beals syndrome) FBN2 ...
  8. NOTCH1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/notch1
    ... of the heart and related structures. One such abnormality occurs in the valve that connects the aorta to the heart (the aortic valve). The aorta ... aortic valve cases. Individuals with a bicuspid aortic valve are at a ... of developing other aortic abnormalities, such as a bulge in the wall of ...
  9. Congenital Contractural Arachnodactyly - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1386
    ... Marfan syndrome. 2. In neonatal Marfan syndrome, cardiovascular abnormalities include mitral and tricuspid valve anomalies and dilated aorta. In severe/lethal CCA, cardiovascular abnormalities include atrial ...
  10. pdf2021Newheadingsbycategorysinglecolumn508.pdf 
    https://www.nlm.nih.gov/...1Newheadingsbycategorysinglecolumn508.pdf
    ... Disease C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Aortico-Ventricular Tunnel Autosomal Emery-Dreifuss Muscular Dystrophy Bicuspid Aortic Valve Disease Developmental Dysplasia of the Hip Laminopathies Persistent ...
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