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6. Rare genomic copy number variants implicate new candidate genes for bicuspid aortic valve.

Author

Carlisle, Steven G., Albasha, Hasan, Michelena, Hector I., Sabate-Rotes, Anna, Bianco, Lisa, De Backer, Julie, Mosquera, Laura Muiño, Yetman, Anji T., Bissell, Malenka M., Andreassi, Maria Grazia, Foffa, Ilenia, Hui, Dawn S., Caffarelli, Anthony, Kim, Yuli Y., Guo, Dongchuan, Citro, Rodolfo, De Marco, Margot, Tretter, Justin T., McBride, Kim L., and Milewicz, Dianna M.

Abstract

Bicuspid aortic valve (BAV), the most common congenital heart defect, is a major cause of aortic valve disease requiring valve interventions and thoracic aortic aneurysms predisposing to acute aortic dissections. The spectrum of BAV ranges from early onset valve and aortic complications (EBAV) to sporadic late onset disease. Rare genomic copy number variants (CNVs) have previously been implicated in the development of BAV and thoracic aortic aneurysms. We determined the frequency and gene content of rare CNVs in EBAV probands (n = 272) using genome-wide SNP microarray analysis and three complementary CNV detection algorithms (cnvPartition, PennCNV, and QuantiSNP). Unselected control genotypes from the Database of Genotypes and Phenotypes were analyzed using identical methods. We filtered the data to select large genic CNVs that were detected by multiple algorithms. Findings were replicated in a BAV cohort with late onset sporadic disease (n = 5040). We identified 3 large and rare (< 1,1000 in controls) CNVs in EBAV probands. The burden of CNVs intersecting with genes known to cause BAV when mutated was increased in case-control analysis. CNVs intersecting with GATA4 and DSCAM were enriched in cases, recurrent in other datasets, and segregated with disease in families. In total, we identified potentially pathogenic CNVs in 9% of EBAV cases, implicating alterations of candidate genes at these loci in the pathogenesis of BAV. [ABSTRACT FROM AUTHOR]

Published
2024
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7. Abstract 15501: Rare Genomic Copy Number Variants Implicate New Candidate Genes for Bicuspid Aortic Valve

Author

Carlisle, Steven G, Albasha, Hasan, Michelena, Hector I, Sabate-Rotes, Anna, Bianco, Lisa, DeBacker, Julie, Muino Mosquera, Laura, Yetman, Angela T, Bissell, Malenka, Andreassi, Maria Grazia, Foffa, Ilenia, Hui, Dawn, Caffarelli, Anthony D, Kim, Yuli Y, Guo, Dongchuan, Citro, Rodolfo, De Marco, Margot, Tretter, Justin, Hanchard, Neil A, Belmont, John W, McBride, Kim L, Body, Simon C, and Prakash, Siddharth K

Published
2022
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9. Hepatocellular carcinoma in survivors after Fontan operation: a case–control study.

Author

Kim, Yuli Y, Lluri, Gentian, Haeffele, Christiane, Daugherty, Tami, Krasuski, Richard A, Serfas, John D, Freitas, R Andrew de, Porlier, Avaliese, Lubert, Adam M, Wu, Fred M, Valente, Anne Marie, Krieger, Eric V, Buber, Jonathan, Rodriguez, Fred H, Gaignard, Scott, Saraf, Anita, Hindes, Morgan, Earing, Michael G, Lewis, Matthew J, and Rosenbaum, Marlon S

Subjects
CARDIAC surgery, LIVER histology, HEPATITIS C, CASE-control method, HEPATIC fibrosis, HEART failure, HEPATOCELLULAR carcinoma
Abstract

This article summarizes a case-control study on hepatocellular carcinoma (HCC) in adult patients who have undergone the Fontan operation for congenital heart disease. The study found that liver injury is common in these patients and can lead to fibrosis and cirrhosis. Risk factors for HCC in Fontan patients are not fully understood, but the study identified associations between HCC and factors such as prior Fontan revision, valve surgery, and certain liver function markers. The estimated prevalence of HCC in adult Fontan patients was 1.8%, and the one-year survival rate after HCC diagnosis was 81%. The study recommends regular screenings for HCC in adult Fontan patients. [Extracted from the article]

Published
2024
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12. Hepatocellular carcinoma in survivors after Fontan operation: a case–control study

Author

Kim, Yuli Y, primary, Lluri, Gentian, additional, Haeffele, Christiane, additional, Daugherty, Tami, additional, Krasuski, Richard A, additional, Serfas, John D, additional, de Freitas, R Andrew, additional, Porlier, Avaliese, additional, Lubert, Adam M, additional, Wu, Fred M, additional, Valente, Anne Marie, additional, Krieger, Eric V, additional, Buber, Jonathan, additional, Rodriguez, Fred H, additional, Gaignard, Scott, additional, Saraf, Anita, additional, Hindes, Morgan, additional, Earing, Michael G, additional, Lewis, Matthew J, additional, Rosenbaum, Marlon S, additional, Zaidi, Ali N, additional, Hopkins, Kali, additional, Bradley, Elisa A, additional, Cedars, Ari M, additional, Ko, Jong L, additional, Franklin, Wayne J, additional, Frederickson, Abby, additional, Ginde, Salil, additional, Grewal, Jasmine, additional, Nyman, Annique, additional, Min, Jungwon, additional, Schluger, Charlotte, additional, Rand, Elizabeth, additional, Rosenthal, Benjamin E, additional, Hilscher, Moira, additional, Rychik, Jack, additional, and Hoteit, Maarouf A, additional

Published
2023
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13. Rare Genomic Copy Number Variants Implicate New Candidate Genes for Bicuspid Aortic Valve

Author

Carlisle, Steven G, primary, Albasha, Hasan, additional, Michelena, Hector, additional, Sabate-Rotes, Anna, additional, Bianco, Lisa, additional, De Backer, Julie, additional, Mosquera, Laura Muiño, additional, Yetman, Anji T., additional, Bissell, Malenka M, additional, Andreassi, Maria Grazia, additional, Foffa, Ilenia, additional, Hui, Dawn S., additional, Caffarelli, Anthony, additional, Kim, Yuli Y., additional, Guo, Dongchuan, additional, Citro, Rodolfo, additional, De Marco, Margot, additional, Tretter, Justin T., additional, McBride, Kim L., additional, Milewicz, Dianna M., additional, Body, Simon C, additional, and Prakash, Siddharth, additional

Published
2023
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21. CLINICAL CHARACTERISTICS AND OUTCOMES OF HEPATOCELLULAR CARCINOMA FOLLOWING FONTAN PALLIATION

Author

Kim, Yuli Y., primary, Nyman, Annique, additional, Rosenthal, Benjamin, additional, Lluri, Gentian, additional, Haeffele, Christiane, additional, Defreitas, Andrew, additional, Lubert, Adam, additional, Krasuski, Richard A., additional, Wu, Fred, additional, Krieger, Eric V., additional, Saraf, Anita, additional, Earing, Michael, additional, Lewis, Matthew J., additional, Rodriguez, Fred H., additional, Zaidi, Ali N., additional, Bradley, Elisa, additional, Cedars, Ari M., additional, Franklin, Wayne J., additional, Ginde, Salil, additional, Grewal, Jasmine, additional, Schluger, Charlotte, additional, Min, Jungwon, additional, Hilscher, Moira, additional, and Hoteit, Maarouf, additional

Published
2023
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26. Capturing Adult Congenital Heart Disease: Framework for Development of an Adult Congenital Heart Disease Mortality Risk Model

Author

Nelson, Jennifer S., primary, Fuller, Stephanie, additional, Kim, Yuli Y., additional, Maul, Timothy M., additional, Najm, Hani K., additional, Scholl, Frank G., additional, Feins, Eric N., additional, Wearden, Peter D., additional, Husain, S. Adil, additional, Backer, Carl L., additional, and Karamlou, Tara, additional

Published
2022
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28. Contributors

Author

Aboulhosn, Jamil A., primary, Abraham, Theodore P., additional, Akoum, Nazem, additional, Appleton, Christopher P., additional, Aurigemma, Gerard P., additional, Bax, Jeroen J., additional, Bhatt, Ami B., additional, Bolger, Ann F., additional, Bosch, Johan G., additional, Brosnan, Maria, additional, Bruce, Charles J., additional, Burchill, Luke J., additional, Capoulade, Romain, additional, Carroll, John D., additional, Celermajer, David S., additional, Chen, Michael A., additional, Cheng, Andrew, additional, Cheng, Richard K., additional, Connolly, Heidi M., additional, Cullen, Michael W., additional, Dahou, Abdellaziz, additional, Deen, Jason F., additional, Delgado, Victoria, additional, Delling, Francesca Nesta, additional, Di Tullio, Marco R., additional, Douglas, Pamela S., additional, Drake, Daniel H., additional, Dumesnil, Jean G., additional, Edvardsen, Thor, additional, Evangelista, Artur, additional, Fleischmann, Kirsten E., additional, Foster, Elyse, additional, Freeman, Rosario V., additional, Gay, Laura Galian, additional, Gerber, Ivor L., additional, Hall, Michael T., additional, Hung, Judy, additional, Iung, Bernard, additional, Jander, Nikolaus, additional, Kim, Michael S., additional, Kim, Yuli Y., additional, Kirkpatrick, James N., additional, Kolias, Theodore J., additional, Krieger, Eric V., additional, Lang, Roberto M., additional, Lewin, Mark, additional, Lin, Jeannette, additional, Linefsky, Jason, additional, Mahjoub, Haïfa, additional, Masri, Sofia Carolina, additional, Mayer, Susan A., additional, Mertens, Luc, additional, Messika-Zetoun, David, additional, Minners, Jan, additional, Naqvi, Tasneem Z., additional, Olson, Aaron, additional, Oxorn, Donald C., additional, Pellikka, Patricia A., additional, Pibarot, Philippe, additional, Playford, David, additional, Prior, David, additional, Prutkin, Jordan M., additional, Quaife, Robert A., additional, Rader, Florian, additional, Raghav, Vrishank, additional, Roldan, Carlos A., additional, Salcedo, Ernersto E., additional, Samad, Zainab, additional, Sanders, Stephen P., additional, Sekiguchi, Hiroshi, additional, Sidebotham, David A., additional, Siegel, Robert J., additional, Silversides, Candice K., additional, Silvestry, Frank E., additional, Siu, Samuel C., additional, Smiseth, Otto A., additional, Stout, Karen, additional, Torp, Hans, additional, Tsang, Wendy, additional, Urena, Marina, additional, Vahanian, Alec, additional, Vaidya, Anjali, additional, Valente, Anne Marie, additional, Wald, Rachel M., additional, Wang, Andrew, additional, Weeks, Sarah G., additional, Weiner, Rory B., additional, Welch, Terrence D., additional, Woo, Anna, additional, Wu, Audrey H., additional, Yeh, Doreen DeFaria, additional, Yoganathan, Ajit P., additional, and Zimmerman, Karen G., additional

Published
2017
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