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>> HI, MY NAME IS SHABNAM PEYVANDI.
I'M ONE OF THE THIRD-YEAR CARDIOLOGY FELLOWS AT THE
CHILDREN'S HOSPITAL OF PHILADELPHIA AND I'M HERE
AT CARDIOLOGY 2012 IN ORLANDO.
THE GOAL OF OUR RESEARCH PROJECT WAS TO DETERMINE
THE FREQUENCY OF THE 22Q11.2 DELETION BASED
ON CARDIAC ANATOMY.
THE 22Q11 DELETION IS ONE OF THE MOST COMMON DELETION
SYNDROMES AND IS ASSOCIATED WITH A SERIES OF EXTRA
CARDIAC DEFECTS, MOST OF WHICH BECOME APPARENT
LATER IN CHILDHOOD.
WE FOUND THAT CONSISTENT WITH PRIOR LITERATURE,
PATIENTS WITH TETROLOGY OF FALLOT,
INTERRUPTED AORTIC ARCH TYPE B,
TRUNKUS ARTERIOSUS, AND VENTRICULAR SEPTAL DEFECTS
ARE AT INCREASED RISK FOR A DELETION.
AND ALSO WE CONFIRMED THAT THE PRESENCE OF AN AORTIC ARCH
ANOMALY MARKEDLY INCREASES THE RISK OF A DELETION
WITHIN THESE CONAL-TRUNCAL DEFECTS.
WE ALSO DISCOVERED THAT PATIENTS WITH AN ISOLATED,
A COMMON ISOLATED CONOVENTRICULAR VSD
ARE AT INCREASED RISK FOR A DELETION.
WE HOPE THAT THESE RESULTS WILL HELP REFINE SCREENING
STRATEGIES FOR THIS DELETION SYNDROME IN THE FETAL
AND NEONATAL PERIOD, WHICH WILL ALLOW FOR EARLY DETECTION
OF THIS DELETION AND IN TURN, CREATES EARLY OPPORTUNITIES
FOR INTERVENTION FOR SOME OF THE EXTRA CARDIAC DEFECTS
THAT YOU SEE LATER IN CHILDHOOD SUCH AS
DEVELOPMENTAL DELAYS, LEARNING DISABILITIES,
PSYCHIATRIC DISORDERS.
THANK YOU.