Kaleokupa’A Yamamoto
Research Mentor(s): Dogukan Mizrak
Mentor Department: Cardiac Surgery
Authors: Kaleokupaa Yamamoto, Dogukan Mizrak
Session: Session 2 (10:00am – 10:50am)
Presentation Type: Poster 59
Abstract
Background/Significance: Thoracic aortic aneurysms and dissections (TAADs) are a leading contributor to high mortality and morbidity rates in the United States of America due to their elusive and asymptomatic nature. While approximately 30% of TAAD cases can be attributed to inheritance in an autosomal dominant pattern, the majority of cases (>70%) are labeled as sporadic TAADs in which they have no family history. Therefore, understanding genetic disposition’s major role in aneurysm development and the underlying mechanisms of sporadic TAADs likely activated due to physiological factors such as hypertension (that weakens the aortic wall lining) to identify high-risk individuals is crucial to optimizing genetic screening and providing early-on care. Objective: To identify novel genomic variants associated with aortic aneurysm formation Methods: With a sample of 3000 consented patients, we will conduct a chart analysis to categorize patients based on aneurysm type: ascending, descending, abdominal, root, and arch as well as valve morphology: bicuspid aortic valve (BAV) and tricuspid aortic valve (TAV). Utilizing CT scans and specific metrics and requirements, we will deduce this based on biomarkers and precursors such as aortic diameter: Ascending aneurysm: >4.5 cm, Descending aneurysm: >4.0 mm, Abdominal aneurysm: >3.0 mm. Consequently, we can start to derive correlations between aneurysm type and leaflet morphology. From there, we will look at the patients’ provided genome with the purpose of identifying pathogenic variants that lead to aneurysm formation. Results: We will begin genotyping data from a total of 3000 patients. In collaboration with Michigan Genome Institute we have found all of the eligible and potential candidates for the matching required for this project. Conclusion: We will continue to investigate these patients and we anticipate finding novel genes that will provide insight into the formulation of novel immunotherapies and pharmaceuticals down the line to mitigate this fatal disease.
