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What causes congenital heart disease, and why it is important to you.

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Talk on the causes of congenital heart diseases for patients and parents. First presented at the Children's Hospital of Philadelphia Heart and Mind Education Day, September 26, 2009.

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What causes congenital heart disease, and why it is important to you.

  1. 1. What causes congenital heart disease… …and why is it important to you? Fraz Ahmed Ismat, MD Clinical Associate in Pediatrics The Children's Hospital of Philadelphia
  2. 2. What is the cause of congenital heart disease?
  3. 3. gene disease Our hope…
  4. 4. genes diseases …our reality.
  5. 5. What makes Jane different from Sally?
  6. 6. Why is it important to know the causes of congenital heart disease?
  7. 7. www.oatey.com
  8. 8. Congenital heart disease is not just a plumbing problem www.oatey.com
  9. 9. SUDDEN CARDIAC DEATH IN YOUNG CHILDREN WITH NEUROFIBROMATOSIS TYPE 1 and matt RONALD J. KANTER, MD, MATTHEW GRAHAM, MD, DAVID FAIRBROTHER, MD, AND S. VICTOR SMITH, MD infar ith neurofibromatosis type 1 (NF1) can manifest a characteristic vasculopathy that in mech fatal coronary artery occlusion. We describe the clinical and pathological findings fr vent with NF1, a similar vasculopathy affecting their coronary arteries, and sudden and 6;149:718-20) or m and romatosis type 1 (NF1) is an autosomal dominant disorder with a prevalence of about 1: mild stations, skeletal abnormalities, and optic nerve gliomas are well-known associations; howeve tissu 1 pathy is less well appreciated. Rare cases of sudden death in adults with NF1 have been attrib 2-5 abse nt and myocardial infarction. We report 2 cases of sudden cardiac death in young unrelat ry artery vasculopathy. mia VF c CASE PRESENTATIONS to se of pr
  10. 10. How I study heart development… flickr.com/people/casperonline
  11. 11. Congenital heart disease in Nf1 mutant mice e normal f g Nf1 mutants i j k
  12. 12. UCLA Scientists Use Statins To Overcome Learning Disabilities In Mice ScienceDaily (Nov. 11, 2005) — In a surprise twist that recalls the film classic "Flowers for Algernon," but adds a happy ending, UCLA scientists used statins, a popular class of cholesterol drugs, to reverse the attention deficits linked to the leading genetic cause of learning disabilities. The Nov. 8 issue of Current Statins helped reverse attention deficits in this Biology reports the findings, mouse, which was bred to which were studied in mice develop the leading genetic bred to develop the disease, cause of learning disabilities. called neurofibromatosis 1 (Credit: UCLA: Weidong Li) (NF1).
  13. 13. Blood vessel blockage in Nf1 mutants can be treated Nf1 mutant normal Nf1 mutant + treatment
  14. 14. Genes & congenital heart disease have a complex relationship.
  15. 15. Genes & congenital heart disease have a complex relationship. “Heart disease” genes have effects beyond the developing heart.
  16. 16. Genes & congenital heart disease have a complex relationship. “Heart disease” genes have effects beyond the developing heart. These far-reaching genetic effects may benefit from treatment.
  17. 17. flickr.com/people/midlander

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