Common deletion variants causing protocadherin-α deficiency contribute to the complex genetics of BAV and left-sided congenital heart disease

Autor: Polakit Teekakirikul, Wenjuan Zhu, George C. Gabriel, Cullen B. Young, Kylia Williams, Lisa J. Martin, Jennifer C. Hill, Tara Richards, Marie Billaud, Julie A. Phillippi, Jianbin Wang, Yijen Wu, Tuantuan Tan, William Devine, Jiuann-huey Lin, Abha S. Bais, Jonathan Klonowski, Anne Moreau de Bellaing, Ankur Saini, Michael X. Wang, Leonid Emerel, Nathan Salamacha, Samuel K. Wyman, Carrie Lee, Hung Sing Li, Anastasia Miron, Jingyu Zhang, Jianhua Xing, Dennis M. McNamara, Erik Fung, Paul Kirshbom, William Mahle, Lazaros K. Kochilas, Yihua He, Vidu Garg, Peter White, Kim L. McBride, D. Woodrow Benson, Thomas G. Gleason, Seema Mital, Cecilia W. Lo

Publikováno v: HGG Advances, Vol 2, Iss 3, Pp 100037- (2021)

Summary: Bicuspid aortic valve (BAV) with ∼1%–2% prevalence is the most common congenital heart defect (CHD). It frequently results in valve disease and aorta dilation and is a major cause of adult cardiac surgery. BAV is genetically linked to ra

Externí odkaz: https://doaj.org/article/0b7019f7bd454037bec2471ea5feef8c

Challenges With Left Ventricular Functional Parameters: The Pediatric Heart Network Normal Echocardiogram Database

Autor: Peter C. Frommelt, L. LuAnn Minich, Felicia L. Trachtenberg, Karen Altmann, Joseph Camarda, Meryl S. Cohen, Steven D. Colan, Andreea Dragulescu, Michele A. Frommelt, Tiffanie R. Johnson, John P. Kovalchin, Lina Lin, Joseph Mahgerefteh, Arni Nutting, David A. Parra, Gail D. Pearson, Ricardo Pignatelli, Ritu Sachdeva, Brian D. Soriano, Christopher Spurney, Shubhika Srivastava, Christopher J. Statile, Jessica Stelter, Mario Stylianou, Poonam P. Thankavel, E. Seda Tierney, Mary E. van der Velde, Leo Lopez, Kristin Burns, Jonathan Kaltman, Gail Pearson, Victoria Pemberton, Lynn Mahony, Shan Chen, Steven Colan, Dianne Gallagher, Eric Gerstenberger, Russell Gongwer, Suzanne Granger, Julia Keosaian, Susanne Langley, Tammi Mansolf, Stephanie Moine, Andrew Morrison, Katelyn Nelson, Brenda Ni, Janet Ortiz, David Pober, Michelle Pucillo, Paul Stark, Christiana Toomey, Felicia Trachtenberg, Barbara Winrich, Steven Schwartz, Fraser Golding, Brian McCrindle, Elizabeth Radojewski, Seema Mital, Patricia Walter, Cameron Slorach, Jane Newburger, John Triedman, Ashwin Prakash, Jami Levine, Stephen Paridon, Meryl Cohen, David Goldberg, Tonia Morrison, Andrew M. Atz, Eric Graham, Carolyn Taylor, Shahryar Chowdhury, Patricia Infinger, Richard V. Williams, Dongngan T. Truong, Linda M. Lambert, Marian E. Shearrow, Belva Stanton, Caren Goldberg, Richard Ohye, Suzanne Welch, James F. Cnota, Michelle Hamstra, Kathleen Ash, Joshua Sticka, Mark Payne, Timothy Cordes, Liz Swan, William Mahle, Heather S. Friedman, Laurie J. Clark, Daniel Penny, David Garuba, Carolynn Altman, Marc Richmond, Wyman Lai, Rosalind Korsin, Brett Anderson, Poonam Punjwani Thankavel, Hollie Carron, Salil Ginde, Michelle Otto, Michele Frommelt, Larry Markham, Jonathan H. Soslow, Luciana Young, Elise Duffy, Kathleen Van't Hof, Mark Lewin, Joel Lester, Aarti H. Bhat, Amy Payne, Irene Lytrivi, Helen Ko, Kelly Ann Balem, Craig Sable, Peter Frommelt, Hannah Hartsig, Michael Artman, Anu Rao, Ben Eidem, G. Paul Matherne, Timothy Feltes, Julie Johnson, Jeffrey P. Krischer, Patrick McBride, John Kugler, Frank Evans, David Driscoll, Mark Galantowicz, Sally Hunsberger, Thomas Knight, Holly Taylor

Publikováno v: J Am Soc Echocardiogr

BACKGROUND: The reliability of LV systolic functional indices calculated from blinded echocardiographic measurements of LV size has not been tested in a large cohort of healthy children. The objective of this study was to estimate interobserver varia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ce5124864e94b01a8d4d2bd400816b4
https://pubmed.ncbi.nlm.nih.gov/31351792

Assessment of the Newborn

Autor: William Mahle

Publikováno v: Pediatric and Congenital Cardiology, Cardiac Surgery and Intensive Care ISBN: 9781447146186
Pediatric and Congenital Cardiology, Cardiac Surgery and Intensive Care

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::079cfe23c00a6ca97cbe77e5859c30b4
https://doi.org/10.1007/978-1-4471-4619-3_216

car-8. Two- and Three-dimensional Echocardiographic Demonstration of a Single Coronary Artery with Aneurysm in a Patient with Kawasaki Disease

Autor: Jennifer Shih, Diane Ketcham, William Mahle, Derek Fyfe

Publikováno v: Southern Medical Journal. 96:S45

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c2d28b86123a1bea96faa295410259cf
https://doi.org/10.1097/00007611-200311001-00129