Kelly DiMaggio – New CHD Research
Kelly DiMaggio is 29 years old with a complex single ventricle physiology consisting of mitral atresia, d-TGA with pulmonary stenosis and a hypoplastic left ventricle. Kelly lives outside of Washington, D.C., with her husband, Michael. She graduated from Dickinson College in 2011 and is now employed full time as a Registered Client Service Associate for a team of financial advisors. She loves reading and writing, the beach, marine biology and travel (her passion).
The American Heart Association and the Children's Heart Foundation have joined together to fund researchers through their Congenital Heart Defect Research Awards program which will fund $22M+ in research over a few years. I had the privilege of speaking with Nicole Fleming, a PhD Candidate in the Pathobiology and Translational Science Program at The University of North Carolina at Chapel Hill, who was recently awarded funds from the American Heart Association and The Children’s Heart Foundation for her research project. Nicole was kind enough to explain her research in detail to me, share a bit of personal insight as to why research in the CHD community is important to her, and give her thoughts on where research will go in the future.
Nicole is part of a research team that is seeking to better understand the process of early heart development and the resulting defects that occur when certain important structures aren't present or are defective. Throughout our conversation she referenced to trabeculae and how their study is looking to see what happens when trabeculation doesn't happen correctly or when the trabeculae aren’t formed. Trabeculae are defined as "small, often microscopic, tissue elements in the form of small beams, struts or rods that support or anchor a framework of parts within a body or organ." So, in layman's terms, why trabeculae formed in the developing heart in the first place and what happens to the heart when those tissues are missing, damaged, or manipulated.
The research study is done utilizing zebrafish embryos for multiple reasons. Firstly, zebrafish embryos are transparent, so researchers can easily and clearly see the heart. Zebrafish reproduce via external fertilization, so the researchers have easy access to hundreds of specimens. Additionally, in zebrafish, it is easy to inhibit multiple pathways and then observe how the heart compensates. Through this study, researchers are able to better understand defective ventricular growth in embryos and better understand pharmacological treatments that may improve compromised cardiac function of the structurally defective hearts. The study has found that those with no trabeculae present in the ventricle end up with hypertrophy (the enlargement of an organ or tissue) of the heart cells and an increase in sarcomere size. The studies show that hypertrophy can be attenuated with rapamycin, which also, in turn, improves cardiac function.
Nicole shared with me that one of her motivations for this research stems from personal experience. In 2016 someone she knows gave birth to a child with a congenital heart defect. Unfortunately, the baby succumbed to the congenital heart defect. She is more motivated than ever to make strides in the cardiovascular and CHD communities. Down the line, she hopes to collaborate with clinicians to further various cardiovascular and CHD treatments. She is also very interested in regenerative stem cell studies and the reprogramming of fibroblasts into myocytes (heart cells). The hope is that stem cells or cardiac progenitor cells can be programed to turn into heart cells or be directly implanted into the heart, respectively, and be used to treat individuals who may have a decline in their heart function or who may have damaged heart tissue or be missing certain parts of the heart in general. As someone living with HLHS (hypoplastic left heart syndrome) where as of now it is thought that a heart transplant will be inevitable, I could not be more excited about the prospect of effective pharmacological and/or regenerative medicine treatments!
I’m confident that I can speak on behalf of many in expressing my sincere gratitude to Nicole and her colleagues for their dedication to research in the CHD field. Being an adult with CHD, especially in the first true generation of survivors, can be quite scary and emotionally draining. However, knowing that there are dedicated researchers dedicating their time to such vital research, and who are supported by organizations like the American Heart Foundation and the Children's Heart Foundation, gives me so much hope for the future. From the bottom of my heart, thank you!
