Epidemiology and Management of Congenital Heart Disease

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Sierant, M. C., Jin, S. C., Bilguvar, K., Morton, S. U., Dong, W., Jiang, W., Lu, Z., Li, B., López-Giráldez, F., Tikhonova, I., Zeng, X., Lu, Q., Choi, J., Zhang, J., Nelson-Williams, C., Knight, J. R., Zhao, H., Cao, J., Mane, S., … Lifton, R. P. (2025). Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes. Proceedings of the National Academy of Sciences, 122(13). https://doi.org/10.1073/pnas.2420343122
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Ingle, T., Simms, B., Bain, J., Bembea, M. M., Cholette, J. M., Chegondi, M., Cheung, E., Niebler, R., Ozment, C., Paden, M., Schiller, O., Nellis, M. E., & Karam, O. (2025). Platelet transfusion stated practices among neonatal and paediatric veno‐arterial extracorporeal membrane oxygenation providers: A survey. Vox Sanguinis. Portico. https://doi.org/10.1111/vox.70018
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Dong, W., Jin, S. C., Sierant, M. C., Lu, Z., Li, B., Lu, Q., Morton, S. U., Zhang, J., López-Giráldez, F., Nelson-Williams, C., Knight, J. R., Zhao, H., Cao, J., Mane, S., Gruber, P. J., Lek, M., Goldmuntz, E., Deanfield, J., Giardini, A., … Brueckner, M. (2025). Recessive genetic contribution to congenital heart disease in 5,424 probands. Proceedings of the National Academy of Sciences, 122(10). https://doi.org/10.1073/pnas.2419992122
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Lovers, A., Daumer, M., Frasch, M. G., Ugwumadu, A., Warrick, P., Vullings, R., Pini, N., Tolladay, J., Petersen, O. B., Lederer, C., Yang, L., Djurić, P. M., Abtahi, F., Holzmann, M., Boudet, S., de l’Aulnoit, A. H., & Georgieva, A. (2025). Advancements in Fetal Heart Rate Monitoring: A Report on Opportunities and Strategic Initiatives for Better Intrapartum Care. BJOG: An International Journal of Obstetrics & Gynaecology. Portico. https://doi.org/10.1111/1471-0528.18097
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Hsien, S., Barry, O. M., Glickstein, J., Levasseur, S., & Shah, A. M. (2025). Anomalous Single Coronary Artery From the Pulmonary Artery in a Newborn With Tetralogy of Fallot. JACC: Case Reports, 30(3), 103230. https://doi.org/10.1016/j.jaccas.2024.103230
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Barry, O. M., Hasan, B. S., Aslam, N., Batlivala, S. P., Crystal, M. A., Trucco, S. M., Gudausky, T., Holzer, R. J., Kreutzer, J., Nicholson, G., O’Byrne, M. L., Quinn, B. P., Veeram Reddy, S. R., Salavitabar, A., & Boe, B. A. (2025). Evaluating Procedural Performance: A Composite Outcome for Atrial Septal Defect and Patent Ductus Arteriosus Closures. Journal of the Society for Cardiovascular Angiography & Interventions, 4(2), 102459. https://doi.org/10.1016/j.jscai.2024.102459
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Verdi, K. G., Feng, I., Zhou, A. L., & Woo, Y. J. (2025). Repair of giant pulmonary artery aneurysm and quadricuspid pulmonic valve with valve-sparing pulmonic root replacement. JTCVS Techniques, 30, 69–72. https://doi.org/10.1016/j.xjtc.2024.12.004
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Leezer, S., Mehta, R., Agarwal, A., Saraf, S., Messmer, M., Phillippi, R., Jackson, J. L., Roeder, M., Marlin, A., Peyser, N. D., Pletcher, M. J., Krasuski, R., Lewis, M., Reardon, L., Saidi, A., Kanter, R., Sandhu, S., Young, T., Jacobsen, R., … John, A. S. (2024). Patient-Reported Outcomes Among Adults With Congenital Heart Disease in the Congenital Heart Initiative Registry. JAMA Network Open, 7(10), e2439629. https://doi.org/10.1001/jamanetworkopen.2024.39629
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Akita, K., Kusunose, K., Haga, A., Shimomura, T., Kosaka, Y., Ishiyama, K., Hasegawa, K., Fifer, M. A., Maurer, M. S., & Shimada, Y. J. (2024). Deep learning of echocardiography distinguishes between presence and absence of late gadolinium enhancement on cardiac magnetic resonance in patients with hypertrophic cardiomyopathy. Echo Research & Practice, 11(1). https://doi.org/10.1186/s44156-024-00059-8
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Kochav, J., DiLorenzo, M. P., Lewis, M. J., Groenink, M., van den Boogaard, M., Mulder, B., & Rosenbaum, M. (2024). Longitudinal changes in systemic right ventricular remodeling in adult patients with transposition of the great vessels as assessed by cardiovascular magnetic resonance imaging. Journal of Cardiovascular Magnetic Resonance, 26(2), 101107. https://doi.org/10.1016/j.jocmr.2024.101107
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Catapano, F., Steinwurtzel, R., Parravicini, E., & Wool, C. (2024). A qualitative analysis of parents’ experiences while their neonates with congenital heart disease require intensive care. Frontiers in Pediatrics, 12. https://doi.org/10.3389/fped.2024.1425320
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Nageotte, S., Salavitabar, A., Zablah, J. E., Ligon, R. A., Turner, M. E., El‐Said, H., Guyon, P., Boucek, D., Alvarez‐Fuente, M., McElhinney, D. B., Balzer, D., & Shahanavaz, S. (2024). Transcatheter pulmonary valve replacement after arterial switch operation. Catheterization and Cardiovascular Interventions. Portico. https://doi.org/10.1002/ccd.31152
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Szalontay, L., Fino, J., Berg, X., Lipina, J., Gallitto, M., De Santos, G. L., Yoh, N., Gartrell, R., Pavisic, J., Garvin, J., Lignelli, A., Gomes, W., Feldstein, N., Konofagou, E. E., Zacharoulis, S., & Wu, C.-C. (2024). DIPG-93. OVERALL EXPERIENCE OF TWO PHASE I CLINICAL TRIALS WITH FOCUSED ULTRASOUND-MEDIATED BLOOD BRAIN BARRIER OPENING IN CHILDREN, ADOLESCENTS, AND YOUNG ADULTS WITH PROGRESSIVE DIPG/DMG USING A NEURONAVIGATION-BASED DEVICE. Neuro-Oncology, 26(Supplement_4), 0–0. https://doi.org/10.1093/neuonc/noae064.146
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Beqaj, H., Goldshtrom, N., Linder, A., Buratto, E., Setton, M., DiLorenzo, M., Goldstone, A., Barry, O., Shah, A., Krishnamurthy, G., Bacha, E., & Kalfa, D. (2024). Valved Sano conduit improves immediate outcomes following Norwood operation compared with nonvalved Sano conduit. The Journal of Thoracic and Cardiovascular Surgery, 167(4), 1404–1413. https://doi.org/10.1016/j.jtcvs.2023.08.036
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Vinogradsky, A. V., Nguyen, S. N., Patel, K., Regan, M., Axsom, K. M., Lewis, M. J., Sayer, G., Uriel, N., Naka, Y., Goldstone, A. B., & Takeda, K. (2024). Long-term outcomes of heart transplantation in adults with congenital heart disease: The impact of single-ventricle versus biventricular physiology. JTCVS Open, 19, 257–274. https://doi.org/10.1016/j.xjon.2024.04.006
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Konstantinov, I. E., Bacha, E., Barron, D., David, T., Dearani, J., d’Udekem, Y., El-Hamamsy, I., Najm, H. K., del Nido, P. J., Pizarro, C., Skillington, P., Starnes, V. A., & Winlaw, D. (2024). Optimal timing of Ross operation in children: A moving target? The Journal of Thoracic and Cardiovascular Surgery. https://doi.org/10.1016/j.jtcvs.2024.02.012
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Bartkowiak, J., Vivekanantham, H., Kassar, M., Dernektsi, C., Agarwal, V., Lebehn, M., Windecker, S., Brugger, N., Hahn, R. T., & Praz, F. (2024). Computed tomography anatomic predictors of outcomes in patients undergoing tricuspid transcatheter edge-to-edge repair. Journal of Cardiovascular Computed Tomography, 18(3), 259–266. https://doi.org/10.1016/j.jcct.2024.02.001
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Kantor, P. F., Shi, L., Colan, S. D., Orav, E. J., Wilkinson, J. D., Hamza, T. H., Webber, S. A., Canter, C. E., Towbin, J. A., Everitt, M. D., Pahl, E., Ware, S. M., Rusconi, P. G., Lamour, J. M., Jefferies, J. L., Addonizio, L. J., & Lipshultz, S. E. (2024). Progressive Left Ventricular Remodeling for Predicting Mortality in Children With Dilated Cardiomyopathy: The Pediatric Cardiomyopathy Registry. Journal of the American Heart Association, 13(2). https://doi.org/10.1161/jaha.121.022557
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Clelland, C. L., Moss, S., & Clelland, J. D. (2024). Warning: Artificial intelligence chatbots can generate inaccurate medical and scientific information and references. Exploration of Digital Health Technologies, 1–6. Portico. https://doi.org/10.37349/edht.2024.00006
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Erin, H., Elena, A., Anne, F., & Elvira, P. (2023). Medical and Day-to-Day Burden on Families of Children with Hypoplastic Left Heart Syndrome Who Have Undergone Single Ventricle Surgical Palliation over a Decade. International Archives of Cardiovascular Diseases, 7(1). https://doi.org/10.23937/2643-3966/1710059
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Jayaram, N., Allen, P., Hall, M., Karamlou, T., Woo, J., Crook, S., & Anderson, B. R. (2023). Adjusting for Congenital Heart Surgery Risk Using Administrative Data. Journal of the American College of Cardiology, 82(23), 2212–2221. https://doi.org/10.1016/j.jacc.2023.09.826
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LaSala, V. R., Buratto, E., Beqaj, H., Aguirre, I., Maldonado, J., Goldshtrom, N., Goldstone, A., Setton, M., Krishnamurthy, G., Bacha, E., & Kalfa, D. M. (2023). Outcomes of surgical management of Ebstein anomaly and tricuspid valve dysplasia in critically ill neonates and infants. JTCVS Open, 16, 629–638. https://doi.org/10.1016/j.xjon.2023.08.007
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Fusco, F., Krasuski, R. A., Sadeghi, S., Rosenbaum, M. S., Lewis, M. J., Carazo, M. R., Rodriguez, F. H., Halpern, D. G., Feinberg, J. L., Galilea, F. A., Baraona, F., Cedars, A. M., Ko, J. M., Porayette, P., Maldonado, J. R., Frogoudaki, A. A., Nir, A., Chaudhry, A., John, A. S., … Sarubbi, B. (2023). COVID-19–Related Thrombotic and Bleeding Events in Adults With Congenital Heart Disease. JACC: Advances, 2(10), 100701. https://doi.org/10.1016/j.jacadv.2023.100701
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Marella, N. T., Gil, A. M., Fan, W., Aristizabal, C. A., Asrani, P., Harrington, J. K., Channing, A., Setton, M., Shah, A. M., Levasseur, S., Glickstein, J., & Farooqi, K. M. (2023). 3D-Printed Cardiac Models for Fetal Counseling: A Pilot Study and Novel Approach to Improve Communication. Pediatric Cardiology, 44(8), 1800–1807. https://doi.org/10.1007/s00246-023-03177-y
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Nguyen, S. N., Chung, M. M., Vinogradsky, A. V., Richmond, M. E., Zuckerman, W. A., Goldstone, A. B., & Bacha, E. A. (2023). Long-term outcomes of surgery for obstructive hypertrophic cardiomyopathy in a pediatric cohort. JTCVS Open, 16, 726–738. https://doi.org/10.1016/j.xjon.2023.09.032
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Maleyeff, L., Newburger, J. W., Wypij, D., Thomas, N. H., Anagnoustou, E., Brueckner, M., Chung, W. K., Cleveland, J., Cunningham, S., Gelb, B. D., Goldmuntz, E., Hagler, D. J., Huang, H., King, E., McQuillen, P., Miller, T. A., Norris‐Brilliant, A., Porter, G. A., Roberts, A. E., … Morton, S. U. (2023). Association of genetic and sulcal traits with executive function in congenital heart disease. Annals of Clinical and Translational Neurology, 11(2), 278–290. Portico. https://doi.org/10.1002/acn3.51950
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Rommel, K. P., Besler, C., Unterhuber, M., Kresoja, K. P., Noack, T., Kister, T., Brener, M., Fudim, M., Abdel-Wahab, M., Leon, M., Thiele, H., Burkhoff, D., & Lurz, P. (2023). Functional volume distribution in tricuspid regurgitation associated right heart failure. European Heart Journal, 44(Supplement_2). https://doi.org/10.1093/eurheartj/ehad655.1764
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Goldberg, C. S., Trachtenberg, F., William Gaynor, J., Mahle, W. T., Ravishankar, C., Schwartz, S. M., Cnota, J. F., Ohye, R. G., Gongwer, R., Taylor, M., Paridon, S., Frommelt, P. C., Afton, K., Atz, A. M., Burns, K. M., Detterich, J. A., Hill, K. D., Cabrera, A. G., … Lewis, A. B. (2023). Longitudinal Follow-Up of Children With HLHS and Association Between Norwood Shunt Type and Long-Term Outcomes: The SVR III Study. Circulation, 148(17), 1330–1339. https://doi.org/10.1161/circulationaha.123.065192
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Hays, T., Hernan, R., Disco, M., Griffin, E. L., Goldshtrom, N., Vargas, D., Krishnamurthy, G., Bomback, M., Rehman, A. U., Wilson, A. T., Guha, S., Phadke, S., Okur, V., Robinson, D., Felice, V., Abhyankar, A., Jobanputra, V., & Chung, W. K. (2023). Implementation of Rapid Genome Sequencing for Critically Ill Infants With Complex Congenital Heart Disease. Circulation: Genomic and Precision Medicine, 16(5), 415–420. https://doi.org/10.1161/circgen.122.004050
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Detterich, J., Taylor, M. D., Slesnick, T. C., DiLorenzo, M., Hlavacek, A., Lam, C. Z., Sachdeva, S., Lang, S. M., Campbell, M. J., Gerardin, J., Whitehead, K. K., Rathod, R. H., Cartoski, M., Menon, S., Trachtenberg, F., Gongwer, R., Newburger, J., Goldberg, C., & Dorfman, A. L. (2023). Cardiac Magnetic Resonance Imaging to Determine Single Ventricle Function in a Pediatric Population is Feasible in a Large Trial Setting: Experience from the Single Ventricle Reconstruction Trial Longitudinal Follow up. Pediatric Cardiology, 44(7), 1454–1461. https://doi.org/10.1007/s00246-023-03216-8
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de Campos, V. P., Vien, I., Marino, L. V., & Lucchese-Lobato, F. (2023). Translation, cross-cultural adaptation, content validation, and clinical feasibility of the nutritional pathway for infants with congenital heart disease before surgery. Jornal de Pediatria, 99(5), 456–463. https://doi.org/10.1016/j.jped.2023.02.007
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Duong, S. Q., Elfituri, M. O., Zaniletti, I., Ressler, R. W., Noelke, C., Gelb, B. D., Pass, R. H., Horowitz, C. R., Seiden, H. S., & Anderson, B. R. (2023). Neighborhood Childhood Opportunity, Race/Ethnicity, and Surgical Outcomes in Children With Congenital Heart Disease. Journal of the American College of Cardiology, 82(9), 801–813. https://doi.org/10.1016/j.jacc.2023.05.069
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Nguyen, S. N., Vinogradsky, A. V., Ferrari, G., Sykes, M., Bacha, E. A., Richmond, M. E., & Goldstone, A. B. (2023). Pitfalls and Future Directions of Contemporary Pediatric Valve Surgery: the Case for Living Valve Substitutes. Current Pediatrics Reports, 11(4), 180–192. https://doi.org/10.1007/s40124-023-00295-2
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Wong, J. N., Walter, J. R., Conrad, E. C., Seshadri, D. R., Lee, J. Y., Gonzalez, H., Reuther, W., Hong, S. J., Pini, N., Marsillio, L., Moskalyk, K., Vicenteno, M., Padilla, E., Gann, O., Chung, H. U., Ryu, D., du Plessis, C., Odendaal, H. J., Fifer, W. P., … Xu, S. (2023). A comprehensive wireless neurological and cardiopulmonary monitoring platform for pediatrics. PLOS Digital Health, 2(7), e0000291. https://doi.org/10.1371/journal.pdig.0000291
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Lewis, M. J., Reardon, L. C., Aboulhosn, J., Haeffele, C., Chen, S., Kim, Y., Fuller, S., Forbess, L., Alshawabkeh, L., Urey, M. A., Book, W. M., Rodriguez, F., Menachem, J. N., Clark, D. E., Valente, A. M., Carazo, M., Egbe, A., Connolly, H. M., Krieger, E. V., … Rosenbaum, M. (2023). Clinical Outcomes of Adult Fontan-Associated Liver Disease and Combined Heart-Liver Transplantation. Journal of the American College of Cardiology, 81(22), 2149–2160. https://doi.org/10.1016/j.jacc.2023.03.421
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Cohen, J., Arya, B., Caplan, R., Donofrio, M. T., Ferdman, D., Harrington, J. K., Ho, D. Y., Hogan, W., Hornberger, L. K., Jhaveri, S., Killen, S. A. S., Lindblade, C. L., Michelfelder, E., Moon‐Grady, A. J., Patel, S., Quezada, E., Ronai, C., Sanchez Mejia, A. A., Schidlow, D. N., … Srivastava, S. (2023). Congenitally Corrected Transposition of the Great Arteries: Fetal Diagnosis, Associations, and Postnatal Outcome: A Fetal Heart Society Research Collaborative Study. Journal of the American Heart Association, 12(11). https://doi.org/10.1161/jaha.122.029706
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Lewis, M. J., Reardon, L. C., Aboulhosn, J., Haeffele, C., Chen, S., Kim, Y., Fuller, S., Forbess, L., Alshawabkeh, L., Urey, M. A., Book, W. M., Rodriguez, F., Menachem, J. N., Clark, D. E., Valente, A. M., Carazo, M., Egbe, A., Connolly, H. M., Krieger, E. V., … Rosenbaum, M. (2023). Morbidity and Mortality in Adult Fontan Patients After Heart or Combined Heart-Liver Transplantation. Journal of the American College of Cardiology, 81(22), 2161–2171. https://doi.org/10.1016/j.jacc.2023.03.422
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Farooqi, K. A. N. W. A. L., Pasumarti, N., Shah, A., Crystal, M., Kalfa, D., & Bacha, E. B. (2023). Use of advanced 3D modelling and printing for congenital heart disease at a large surgical center. European Heart Journal - Cardiovascular Imaging, 24(Supplement_1). https://doi.org/10.1093/ehjci/jead119.101
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Gearhart, A., Bassi, S., Liddle, D., Thatte, N., Harrington, J. K., Rathod, R. H., & Ghelani, S. J. (2023). Single Ventricular Torsional Mechanics After Fontan Palliation and Their Impact on Outcomes. JACC: Advances, 2(4), 100360. https://doi.org/10.1016/j.jacadv.2023.100360
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Jang, M. Y., Patel, P. N., Pereira, A. C., Willcox, J. A. L., Haghighi, A., Tai, A. C., Ito, K., Morton, S. U., Gorham, J. M., McKean, D. M., DePalma, S. R., Bernstein, D., Brueckner, M., Chung, W. K., Giardini, A., Goldmuntz, E., Kaltman, J. R., Kim, R., Newburger, J. W., … Seidman, J. G. (2023). Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease. Circulation: Genomic and Precision Medicine, 16(3), 224–231. https://doi.org/10.1161/circgen.122.003924
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Sobhani, N. C., Corbetta-Rastelli, C. M., Agarwal, A., D’Alton, M. E., Friedman, A. M., & Wen, T. (2023). Delivery trends and obstetric outcomes in patients with Fontan circulation. American Journal of Obstetrics & Gynecology MFM, 5(5), 100921. https://doi.org/10.1016/j.ajogmf.2023.100921
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Hsien, S., Barry, O. M., & Petit, C. J. (2023). Transcatheter Creation of a “Neo-Ductus”: Neonatal Extravascular Systemic-to-Pulmonary Artery Shunt Using a Covered Coronary Stent. Journal of the Society for Cardiovascular Angiography & Interventions, 2(3), 100628. https://doi.org/10.1016/j.jscai.2023.100628
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Crook, S., Dragan, K., Woo, J. L., Neidell, M., Jiang, P., Cook, S., Hannan, E. L., Newburger, J. W., Jacobs, M. L., Bacha, E. A., Petit, C. J., Vincent, R., Walsh-Spoonhower, K., Mosca, R., Kumar, T. K. S., Devejian, N., Kamenir, S. A., Alfieris, G. M., Swartz, M. F., … Anderson, B. R. (2023). Long-Term Health Care Utilization After Cardiac Surgery in Children Covered Under Medicaid. Journal of the American College of Cardiology, 81(16), 1605–1617. https://doi.org/10.1016/j.jacc.2023.02.021
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Griffin, E. L., Nees, S. N., Morton, S. U., Wynn, J., Patel, N., Jobanputra, V., Robinson, S., Kochav, S. M., Tao, A., Andrews, C., Cross, N., Geva, J., Lanzilotta, K., Ritter, A., Taillie, E., Thompson, A., Meyer, C., Akers, R., King, E. C., … Chung, W. K. (2023). Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study. Circulation: Genomic and Precision Medicine, 16(2). https://doi.org/10.1161/circgen.122.003791
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Morton, S. U., Norris-Brilliant, A., Cunningham, S., King, E., Goldmuntz, E., Brueckner, M., Miller, T. A., Thomas, N. H., Liu, C., Adams, H. R., Bellinger, D. C., Cleveland, J., Cnota, J. F., Dale, A. M., Frommelt, M., Gelb, B. D., Grant, P. E., Goldberg, C. S., Huang, H., … Newburger, J. W. (2023). Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease. JAMA Network Open, 6(1), e2253191. https://doi.org/10.1001/jamanetworkopen.2022.53191
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Shahim, B., Cohen, D., Asch, F., Bax, J., George, I., Rück, A., Ben-Yehuda, O., Kar, S., Lim, S., Saxon, J., Zhou, Z., Lindenfeld, J., Abraham, W., Mack, M., & Stone, G. (2022). TCT-337 Repeat Mitral Valve Interventions After Transcatheter Edge-to-Edge Repair in Heart Failure: The COAPT Trial. Journal of the American College of Cardiology, 80(12), B136. https://doi.org/10.1016/j.jacc.2022.08.395
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Barker, C. M., Meduri, C. U., Fail, P. S., Chambers, J. W., Solet, D. J., Kriegel, J. M., Vela, D. C., Feldt, K., Pate, T. D., Patel, A. P., & Shaburishvili, T. (2022). Feasibility of a No-Implant Approach to Interatrial Shunts: Preclinical and Early Clinical Studies. Structural Heart, 6(4), 100078. https://doi.org/10.1016/j.shj.2022.100078
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Duchon, J., Farkouh-Karoleski, C., Bailey, D. D., & Krishnan, U. S. (2022). Association between pulmonary vein stenosis and necrotizing enterocolitis or gastrointestinal pathology. Annals of Pediatric Cardiology, 15(1), 13–19. https://doi.org/10.4103/apc.apc_210_21
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