HLHS is caused by the up regulation of HIF1α due to hypoxia caused by a polymorphism in eNOS

Authors

Tyler J. Bruinsma, College of Saint Benedict/Saint John's University
Kevin T. Curwick, College of Saint Benedict/Saint John's University
Leah Ellman, College of Saint Benedict/Saint John's University
Jared M. Grootwassink, College of Saint Benedict/Saint John's University
Thomas M. O'Toole, College of Saint Benedict/Saint John's University

Document Type

Presentation

Publication Date

4-23-2015

Disciplines

Biology | Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Life Sciences | Medicine and Health Sciences

Advisor

Katherine Furniss, Biology

Abstract

Hypoplastic left heart syndrome (HLHS) is a rare congenital heart defect occurring in fewer than 0.5% of live births in the United States (Fruitman, 2000). It is characterized by a critically underdeveloped left ventricle with accompanying imperfections including septal defects, under-sized aorta, and underdeveloped bicuspid and aortic semilunar valves (Mayo Clinic Staff, 2012; CDC, 2013). HLHS is detectable on ultrasound at the end of the first trimester of pregnancy allowing for early diagnosis and potential treatment in utero. While a protocol involving three surgeries exists to treat the condition, there is no cure for HLHS. Even with treatment, many patients eventually require a heart transplant due to congestive heart failure.

Recommended Citation

Bruinsma, Tyler J.; Curwick, Kevin T.; Ellman, Leah; Grootwassink, Jared M.; and O'Toole, Thomas M., "HLHS is caused by the up regulation of HIF1α due to hypoxia caused by a polymorphism in eNOS" (2015). Celebrating Scholarship & Creativity Day (2011-2017). 61.
https://digitalcommons.csbsju.edu/elce_cscday/61