enow.com Web Search

Search results

  1. Results from the WOW.Com Content Network
  2. Noonan syndrome - Wikipedia

    en.wikipedia.org/wiki/Noonan_syndrome

    Noonan syndrome is the second most common syndromic cause of congenital heart disease. 50-70% of individuals with NS are born with some form of congenital heart defect, with pulmonary valvular stenosis being the most common (50–60%). [9]

  3. Noonan syndrome with multiple lentigines - Wikipedia

    en.wikipedia.org/wiki/Noonan_syndrome_with...

    Noonan syndrome with multiple lentigines (NSML) which is part of a group called Ras/MAPK pathway syndromes, [2] is a rare autosomal dominant, [3] multisystem disease caused by a mutation in the protein tyrosine phosphatase, non-receptor type 11 gene . The disease is a complex of features, mostly involving the skin, skeletal and cardiovascular ...

  4. Syndromes affecting the heart - Wikipedia

    en.wikipedia.org/wiki/Syndromes_affecting_the_heart

    Sick sinus syndrome: Taussig–Bing syndrome: double outlet right ventricle (DORV) and subpulmonic VSD. a cyanotic congenital heart defect: Timothy syndrome: Townes–Brocks syndrome: Triploid syndrome: Turner syndrome: VACTERL syndrome: Wellens' syndrome: Williams syndrome: Wolff–Parkinson–White syndrome: A Delta wave often seen in an ...

  5. Congenital heart defect - Wikipedia

    en.wikipedia.org/wiki/Congenital_heart_defect

    Most congenital heart defects are not associated with other diseases. [3] A complication of CHD is heart failure. [2] Congenital heart defects are the most common birth defect. [3] [11] In 2015, they were present in 48.9 million people globally. [8] They affect between 4 and 75 per 1,000 live births, depending upon how they are diagnosed.

  6. RASopathy - Wikipedia

    en.wikipedia.org/wiki/RASopathy

    Legius syndrome, also known as NF1-like syndrome; Noonan syndrome with multiple lentigines (NSML), formerly called LEOPARD syndrome; SYNGAP1-related intellectual disability; Somatic mutations in the Ras/MAPK pathway can cause cancers and disorders such as RAS-associated autoimmune leukoproliferative disorder (RALD) or juvenile myelomonocytic ...

  7. Jacqueline Noonan - Wikipedia

    en.wikipedia.org/wiki/Jacqueline_Noonan

    Jacqueline Anne Noonan (October 28, 1928 – July 23, 2020) was an American pediatric cardiologist best known for her characterization of a genetic disorder now called Noonan syndrome. [ 1 ] [ 2 ] She was also the original describer of hypoplastic left heart syndrome .

  8. List of congenital disorders - Wikipedia

    en.wikipedia.org/wiki/List_of_congenital_disorders

    Heart disorders (Congenital heart defects) Hemifacial microsomia; Holoprosencephaly; Huntington's disease; Hirschsprung's disease, or congenital aganglionic megacolon; Hypertrichosis; Hypoglossia; Hypomelanism or hypomelanosis (albinism) Hypospadias; Haemophilia; Heterochromia; Hemochromatosis

  9. Category:Congenital heart defects - Wikipedia

    en.wikipedia.org/wiki/Category:Congenital_heart...

    Generally, diseases outlined within the ICD-10 codes Q20-Q24 within Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities should be included in this category. Congenital heart disease is any disease due to an inborn defect in the heart that is present at birth.