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Why teach
heart development
 to cardiologists?
      Fraz Ahmed Ismat, MD
      Clinical Associate in Pediatrics
  The Children's Hospital of Philadelphia
Congenital heart disease deaths
                       doubled
                       childhood cancer
                       deaths in 2005…




Congenital heart disease   Childhood cancer
                                AHA website; Cancer Facts & Figures 2005
… but our improvements have
        stagnated


                        Welke, et al., 2009
Why are we failing
 our patients?
Is our technology
not cool enough?
               flickr.com/people/thedayhascome
Do we
not care
enough?

           flickr.com/people/30367663@N02
What are we missing?

                flickr.com/people/30367663@N02
It’s how we
 think about
heart disease.
                 flickr.com/people/rainerebert
How we think now…
How we think now…

            “obstruction”




               “hole”
www.oatey.com
Congenital heart disease
is not just a plumbing problem…




                             www.oatey.com
It’s a complex genetic problem…
…that we know
a lot more
about it than we
used to,
and…
‘‘
When asked:   Would you like to learn more about




                                                        ’’
              cardiac developmental biology and genetics?
When asked:

                            ‘‘
                             Would you like to learn more about




                                                                       ’’
                             cardiac developmental biology and genetics?




                    Yes!
                                                        …clinicians
                                                No

                                       Not
                                       sure…
                                                        want to
bit.ly/DevCardio_Survey_1
                                                learn it!
How we need to think…
How we need to think…

Tbx1                  Zic3




Tbx1                   Jag1
But how does this
help our patients?
Genetic changes don’t just
 affect the heart cells…




                      flickr.com/people/arboreus
Genetic changes affect the entire
                 developing
                 body

                              Ed Uthman, MD
How I study
heart development…




                     flickr.com/people/casperonline
Nf1 mutations lead to
congenital heart disease…
e   normal   f        g
                 Nf1 mutants




i            j        k
                               Gitler et al., 2003
Fatal blood vessel obstruction
      with Nf1 mutation




                          Kanter et al., 2006
The right treatment can
prevent these problems.

                    flickr.com/people/jdvolcan
Blood vessel blockage in
Nf1 mice can be prevented.
                       Nf1 mutant
 normal   Nf1 mutant   + treatment




                            Xu, Ismat, et al., 2008
He’ll thank
you for it.


              flickr.com/people/partsnpieces
References
Congenital Cardiovascular Defects: Statistics.
 http://www.americanheart.org/presenter.jhtml?identifier=4576.
Cancer Facts and Figures 2005. American Cancer Society.
Welke KF, Diggs BS, Karamlou T, Ungerleider RM.
 Ann Thorac Surg. 2009;87(1): 216-222.
Kanter RJ, Graham M, Fairbrother D, Smith SV.
 J Pediatr. 2006;149(5):718-20.
Gitler AD*, Zhu Y*, Ismat FA, Lu MM,Yamauchi Y,
 Parada LF, Epstein JA. Nat Genet. 2003;33(1):75-9.
Xu J*, Ismat FA*, Wang T,Yang J, Epstein JA.
 Circulation. 2007 Nov 6;116(19):2148-56.
Cardiac Developmental Biology & Genetics - Initial Survey
 http://bit.ly/DevCardio_Survey_1



                                                                flickr.com/people/partsnpieces

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Why teach heart development to cardiologists

  • 1. Why teach heart development to cardiologists? Fraz Ahmed Ismat, MD Clinical Associate in Pediatrics The Children's Hospital of Philadelphia
  • 2. Congenital heart disease deaths doubled childhood cancer deaths in 2005… Congenital heart disease Childhood cancer AHA website; Cancer Facts & Figures 2005
  • 3. … but our improvements have stagnated Welke, et al., 2009
  • 4. Why are we failing our patients?
  • 5. Is our technology not cool enough? flickr.com/people/thedayhascome
  • 6. Do we not care enough? flickr.com/people/30367663@N02
  • 7. What are we missing? flickr.com/people/30367663@N02
  • 8. It’s how we think about heart disease. flickr.com/people/rainerebert
  • 9. How we think now…
  • 10. How we think now… “obstruction” “hole”
  • 12. Congenital heart disease is not just a plumbing problem… www.oatey.com
  • 13. It’s a complex genetic problem…
  • 14. …that we know a lot more about it than we used to, and…
  • 15. ‘‘ When asked: Would you like to learn more about ’’ cardiac developmental biology and genetics?
  • 16. When asked: ‘‘ Would you like to learn more about ’’ cardiac developmental biology and genetics? Yes! …clinicians No Not sure… want to bit.ly/DevCardio_Survey_1 learn it!
  • 17. How we need to think…
  • 18. How we need to think… Tbx1 Zic3 Tbx1 Jag1
  • 19. But how does this help our patients?
  • 20. Genetic changes don’t just affect the heart cells… flickr.com/people/arboreus
  • 21. Genetic changes affect the entire developing body Ed Uthman, MD
  • 22. How I study heart development… flickr.com/people/casperonline
  • 23. Nf1 mutations lead to congenital heart disease… e normal f g Nf1 mutants i j k Gitler et al., 2003
  • 24. Fatal blood vessel obstruction with Nf1 mutation Kanter et al., 2006
  • 25. The right treatment can prevent these problems. flickr.com/people/jdvolcan
  • 26. Blood vessel blockage in Nf1 mice can be prevented. Nf1 mutant normal Nf1 mutant + treatment Xu, Ismat, et al., 2008
  • 27.
  • 28. He’ll thank you for it. flickr.com/people/partsnpieces
  • 29. References Congenital Cardiovascular Defects: Statistics. http://www.americanheart.org/presenter.jhtml?identifier=4576. Cancer Facts and Figures 2005. American Cancer Society. Welke KF, Diggs BS, Karamlou T, Ungerleider RM. Ann Thorac Surg. 2009;87(1): 216-222. Kanter RJ, Graham M, Fairbrother D, Smith SV. J Pediatr. 2006;149(5):718-20. Gitler AD*, Zhu Y*, Ismat FA, Lu MM,Yamauchi Y, Parada LF, Epstein JA. Nat Genet. 2003;33(1):75-9. Xu J*, Ismat FA*, Wang T,Yang J, Epstein JA. Circulation. 2007 Nov 6;116(19):2148-56. Cardiac Developmental Biology & Genetics - Initial Survey http://bit.ly/DevCardio_Survey_1 flickr.com/people/partsnpieces

Editor's Notes