Date of Award


Document Type

Thesis - Open Access

Degree Name

MS Human Genetics


Human Genetics Graduate Program


BACKGROUND: Thoracic aortic dissections (TAD) and thoracic aortic aneurysms (TAA) can cause significant disabilities and premature sudden deaths. Modern advances in medicine and technology have increased the life expectancy for survivors of TAD or TAA; however, limited studies have measured the quality of life of affected individuals, especially those with genetically triggered aortic diseases. The National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) measured the Health Related Quality of Life (HRQoL) in survivors of a TAD or TAA. Another area of impact on quality of life includes depression. One accurate measurement for depression is the 16-item Quick Inventory of Depressive Symptomatology (QIDS-16). With 20% of individuals who survived an AD or AA having a family history, little is known regarding the impact of genetic specialists such as genetic counselors and geneticists. METHODS: Using data collected by the GenTAC registry from patients with genetically triggered aortic diseases and recruited from the University of Texas Health Science Center at Houston and Baylor College of Medicine, this study examined health-related quality of life (i.e. physical role limitations, pain, physical functioning and general health; HRQoL) and prevalence of depression in patients who completed a survey including questions from the 36-Item Short Form Survey (SF-36). Effects of demographic factors (age, gender, race, education, marital status, health insurance, income, and employment status) and diagnosis of a known genetic syndrome or mutation, TAA or TAD, including rupture and marked tortuosity on HRQoL was analyzed. A survey was created via SurveyMonkey to measure the 3 impact of genetic specialists and depression severity, as well as demographics, on HRQoL and was distributed via Facebook. Seventy-five survivors of an aortic dissection or an aneurysm completed the survey. Correlational studies were performed to draw conclusions regarding the results.

Included in

Genetics Commons