Browsing by Subject "Aortic aneurysm"

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    Bicuspid Aortic Valve: a Review with Recommendations for Genetic Counseling
    (Springer, 2016-12) Freeze, Samantha L.; Landis, Benjamin J.; Ware, Stephanie M.; Helm, Benjamin M.; Department of Pediatrics, IU School of Medicine
    Bicuspid aortic valve (BAV) is the most common congenital heart defect and falls in the spectrum of left-sided heart defects, also known as left ventricular outflow tract obstructive (LVOTO) defects. BAV is often identified in otherwise healthy, asymptomatic individuals, but it is associated with serious long term health risks including progressive aortic valve disease (stenosis or regurgitation) and thoracic aortic aneurysm and dissection. BAV and other LVOTO defects have high heritability. Although recommendations for cardiac screening of BAV in at-risk relatives exist, there are no standard guidelines for providing genetic counseling to patients and families with BAV. This review describes current knowledge of BAV and associated aortopathy and provides guidance to genetic counselors involved in the care of patients and families with these malformations. The heritability of BAV and recommendations for screening are highlighted. While this review focuses specifically on BAV, the principles are applicable to counseling needs for other LVOTO defects.
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    Psychological distress in response to physical activity restrictions in patients with non-syndromic thoracic aortic aneurysm/dissection
    (SpringerLink, 2021-10) McEntire, Alexis; Helm, Benjamin M.; Landis, Benjamin J.; Elmore, Lindsey R.; Wilson, Theodore; Wetherill, Leah; Ware, Stephanie M.; Medical and Molecular Genetics, School of Medicine
    Individuals diagnosed with thoracic aortic aneurysm/dissection (TAAD) are given activity restrictions in an attempt to mitigate serious health complications and sudden death. The psychological distress resulting from activity restrictions has been established for other diseases or patient populations; however, individuals with non-syndromic TAAD have not been previously evaluated. Seventy-nine participants completed a questionnaire utilizing the Patient Health Questionnaire (PHQ-9) and Generalized Anxiety Disorder (GAD-7) questionnaires, which assess levels of depression and anxiety respectively. Additionally, quantitative and qualitative questions explored self-reported psychological distress in response to activity restrictions. Individuals who reported higher PHQ + GAD scores had been living with a diagnosis longer than two years (p = 0.0004), were between 35 and 65 years old (p = 0.05), reported not coping well (p = 0.0035), and reported physical activity was "very important" (p = 0.04). Results from individual questions showed that individuals who reported their diagnosis affected them financially were 3.5 times more likely to report "feeling nervous, anxious, or on edge" (CI = [0.81, 15.6], p = 0.094). Qualitative analysis revealed themes that identified participant beliefs regarding distress, ability to cope, hindrances to coping ability, and resources. These results show psychological distress can result from physical activity restrictions in non-syndromic TAAD individuals. Additionally, certain subpopulations may be more susceptible to distress. This is the first study to examine the psychological distress individuals with non-syndromic TAAD experience as a result of prescribed activity restrictions. Genetic counselors and other healthcare professionals can utilize this information to provide more tailored cardiovascular genetic counseling and increase its therapeutic potential for patients.