Talk on the causes of congenital heart diseases, presented at the Children's Hospital of Philadelphia Heart and Mind Education Day 2009 (9/26/09).

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. What is the cause of
congenital heart disease?

3. gene disease
Our hope…

4. genes diseases
…our reality.

5. What
makes
Jane
different
from
Sally?

11. Why is it important to
know the causes of
congenital heart disease?

12. www.oatey.com

13. Congenital heart disease
is not just a plumbing problem
www.oatey.com

14. 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

15. How I study
heart development…
flickr.com/people/casperonline

16. Congenital heart disease in
Nf1 mutant mice
e normal f g
Nf1 mutants
i j k

17. 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).

18. Blood vessel blockage in
Nf1 mutants can be treated
Nf1 mutant
normal Nf1 mutant + treatment

19. Genes & congenital heart disease
have a complex relationship.

20. Genes & congenital heart disease
have a complex relationship.
“Heart disease” genes have effects
beyond the developing heart.

21. 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.

22. flickr.com/people/midlander