Browsing by Subject "Left ventricular outflow tract obstruction"

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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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    Case Report: An association of left ventricular outflow tract obstruction with 5p deletions
    (Frontiers Media, 2024-10-18) Mascho, Kira; Yatsenko, Svetlana A.; Lo, Cecilia W.; Xu, Xinxiu; Johnson, Jennifer; Helvaty, Lindsey R.; Burns Wechsler, Stephanie; Murali, Chaya N.; Lalani, Seema R.; Garg, Vidu; Hodge, Jennelle C.; McBride, Kim L.; Ware, Stephanie M.; Lin, Jiuann-Huey Ivy; Pediatrics, School of Medicine
    Introduction: 5p deletion syndrome, also called Cri-du-chat syndrome 5p is a rare genetic syndrome with reports up to 36% of patients are associated with congenital heart defects. We investigated the association between left outflow tract obstruction and Cri-du-chat syndrome. Methods: A retrospective review of the abnormal microarray cases with congenital heart defects in Children's Hospital of Pittsburgh and the Cytogenomics of Cardiovascular Malformations Consortium. Results: A retrospective review at nine pediatric centers identified 4 patients with 5p deletions and left outflow tract obstruction (LVOTO). Three of these patients had additional copy number variants. We present data suggesting an association of LVOTO with 5p deletion with high mortality in the presence of additional copy number variants. Conclusion: A rare combination of 5p deletion and left ventricular outflow obstruction was observed in the registry of copy number variants and congenital heart defects.