Translational Medical Research Commons^™

Primary Cilia Of The Cardiac Neural Crest & Hedgehog-Mediated Mechanisms Of Congenital Heart Disease, Lindsey A. Fitzsimons

Electronic Theses and Dissertations

Elimination of primary cilia in cardiac neural crest cell (CNCC) progenitors is hypothesized to cause a variety of congenital heart defects (CHDs), including atrioventricular septal defects, and malformations of the developing cardiac outflow tract. We present an in vivo model of CHD resulting from the conditional elimination of primary cilia from CNCC using multiple, Wnt1:Cre-loxP, neural crest-specific systems, targeting two distinctive, but critical, primary cilia structural genes: Intraflagellar transport protein 88 (Ift88) or kinesin family member 3A (Kif3a). CNCC loss of primary cilia leads to widespread CHD, where homozygous mutant embryos (MUT) display a variety of outflow tract malformations, septation …

Factors Influencing Efficacy And Satisfaction In Prenatal Counseling For Families With Single Ventricle Heart Disease, Taylor Hartzel Houlihan, Jack Rychik, Md

Phase 1

Introduction: The Fetal Heart Program at Children’s Hospital of Philadelphia offers prenatal counseling to families with congenital heart disease diagnoses. This center has yet to examine family satisfaction with counseling, especially those with complicated single ventricle diagnoses. While families may receive sufficient education about their child’s condition, better communication may be needed to prepare them for potential neurological and behavioral complications.

Methods: Through chart review, 355 patient families with single ventricle diagnoses who utilized CHOP prenatal counseling within the past 10 years were identified. Retrospective surveys including Likert scales and open-ended questions were distributed by email. 65 responses were …