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Congenital heart disease

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Illness Perceptions And Health-Promoting Behaviors: The Buffering Role Of Resilience In Adults With Congenital Heart Disease, Taylor Rose Eldridge May 2024

Illness Perceptions And Health-Promoting Behaviors: The Buffering Role Of Resilience In Adults With Congenital Heart Disease, Taylor Rose Eldridge

Electronic Theses and Dissertations

Congenital heart defects (CHD) are one of the most prevalent genetic abnormalities, impacting the lives of millions of children, teens, and young adults. Conservative diagnoses estimate that 2.4 million children and adults are living with CHD in the United States (Gilboa et al., 2016). CHD requires consistent cardiac support with multiple surgeries and hospitalizations expected throughout the lifetime, which significantly impacts psychological health. Specifically, patients present with a host of extra-cardiac conditions that impact their quality of life. With advancements in medical technology, mortality rates continue to improve for this population; however, individuals face a number of consequences that impact …


Primary Cilia Of The Cardiac Neural Crest & Hedgehog-Mediated Mechanisms Of Congenital Heart Disease, Lindsey A. Fitzsimons May 2022

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 …