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725 results on '"Morris, Shaine A"'

1. NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy

Author

Dardas, Zain, Fatih, Jawid M., Jolly, Angad, Dawood, Moez, Du, Haowei, Grochowski, Christopher M., Jones, Edward G., Jhangiani, Shalini N., Wehrens, Xander H. T., Liu, Pengfei, Bi, Weimin, Boerwinkle, Eric, Posey, Jennifer E., Muzny, Donna M., Gibbs, Richard A., Lupski, James R., Coban-Akdemir, Zeynep, and Morris, Shaine A.

Published
2024
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4. Thoracolumbar Scoliosis in Pediatric Patients With Loeys-Dietz Syndrome: A Case Series.

Author

LoPresti, Melissa, Athukuri, Prazwal, Khan, A, Prablek, Marc, Patel, Rajan, Mayer, Rory, Bauer, David, Gerow, Frank, Morris, Shaine, Lam, Sandi, and Ravindra, Vijay

Subjects
connective tissue disorder, loeys-dietz syndrome, management, pediatrics, scoliosis
Abstract

Background Loeys-Dietz syndrome (LDS) is a genetic connective tissue disorder that predominantly affects cardiovascular, skeletal, and craniofacial structures. Associated thoracolumbar scoliosis in LDS can be challenging to manage, though other etiologies of pediatric scoliosis have better-defined management guidelines. We examined our institutional experience regarding the treatment of pediatric patients with LDS and scoliosis. Methodology In this retrospective study, all patients seen at our pediatric tertiary care center from 2004 through 2018 with a diagnosis of LDS were reviewed, and those with radiographic diagnoses of scoliosis (full-length scoliosis X-rays) were included. Demographic, clinical, and radiographic parameters were collected, and management strategies were reported. Results A total of 39 LDS patients whose ages ranged between seven and 13 years were identified. A total of nine patients were radiographically diagnosed with scoliosis, but three patients were excluded due to incomplete medical records, leaving six patients. The median age at scoliosis diagnosis was 11.5 years, with a median follow-up of 51 months. Two patients were successfully managed with observation (average initial Cobb angle (CA): 14°, average final CA: 20.5°). Two were braced, one successfully (initial CA: 15°, final CA: 30°) and one with a progressive disease requiring surgery (initial CA: 40°, final CA: 58°). Of the two who were offered surgical correction, one underwent surgery with a durable correction of spinal deformity (CA: 33° to 19°). One patient underwent a recent correction of aortic root dilatation and was not a candidate for scoliosis surgery. Conclusions Principles of adolescent idiopathic scoliosis management such as bracing for CA of 20-50° and surgery for CA of >50° can be applied to LDS patients with good outcomes. This augments our understanding of the treatment algorithm for pediatric patients with LDS.

Published
2023

8. Abstract 4138483: Outcomes of Hypoplastic Left Heart Syndrome by Subtype and Presence of Ventriculocoronary Connections: A Fetal Heart Society Multi-Center Retrospective study

Author

Barris, David, Freud, Lindsay, Day, Patrick, MORRIS, Shaine, Lopez, Keila, Kavanaugh-Mchugh, Ann, Killen, Stacy, Peyvandi, Shabnam, Nunez Gallegos, Flora, Moon-Grady, Anita, Michelfelder, Erik, Mcbrien, Angela, Hornberger, Lisa, Lee, Caroline, Hogan, Whitnee, Chelliah, Anjali, Howley, Lisa, Arya, Bhawna, Keller, Sam, Krishnan, Anita, Donofrio, Mary, taylor, carolyn, Husain, Nazia, Lemley, Bethan, Ronai, Christina, Tworetzky, Wayne, Ikemba, Catherine, Gonsalves, Clarelle, Geiger, Miwa, Duong, Son, and Cohen, Jennifer

Published
2024
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10. Whole-exome sequencing uncovers the genetic complexity of bicuspid aortic valve in families with early-onset complications

Author

Mansoorshahi, Sara, Yetman, Anji T., Bissell, Malenka M., Kim, Yuli Y., Michelena, Hector I., De Backer, Julie, Mosquera, Laura Muiño, Hui, Dawn S., Caffarelli, Anthony, Andreassi, Maria G., Foffa, Ilenia, Guo, Dongchuan, Citro, Rodolfo, De Marco, Margot, Tretter, Justin T., Morris, Shaine A., Body, Simon C., Chong, Jessica X., Bamshad, Michael J., Milewicz, Dianna M., and Prakash, Siddharth K.

Published
2024
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13. Design and implementation of multicenter pediatric and congenital studies with cardiovascular magnetic resonance: Big data in smaller bodies

Author

DiLorenzo, Michael P., Lee, Simon, Rathod, Rahul H., Raimondi, Francesca, Farooqi, Kanwal M., Jain, Supriya S., Samyn, Margaret M., Johnson, Tiffanie R., Olivieri, Laura J., Fogel, Mark A., Lai, Wyman W., Renella, Pierangelo, Powell, Andrew J., Buddhe, Sujatha, Stafford, Caitlin, Johnson, Jason N., Helbing, Willem A., Pushparajah, Kuberan, Voges, Inga, Muthurangu, Vivek, Miles, Kimberley G., Greil, Gerald, McMahon, Colin J., Slesnick, Timothy C., Fonseca, Brian M., Morris, Shaine A., Soslow, Jonathan H., Grosse-Wortmann, Lars, Beroukhim, Rebecca S., and Grotenhuis, Heynric B.

Published
2024
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14. Contemporary Outcomes in Tetralogy of Fallot With Absent Pulmonary Valve After Fetal Diagnosis

Author

Chelliah, Anjali, Moon‐Grady, Anita J, Peyvandi, Shabnam, Chiu, Joanne S, Bost, James E, Schidlow, David, Carroll, Sheila J, Davey, Brooke, Divanovic, Allison, Hornberger, Lisa, Howley, Lisa W, Kavanaugh‐McHugh, Ann, Kovalchin, John P, Levasseur, Stephanie M, Lindblade, Christopher L, Morris, Shaine A, Ngwezi, Deliwe, Pruetz, Jay D, Puchalski, Michael D, Rychik, Jack, Samai, Cyrus, Tacy, Theresa A, Tworetzky, Wayne, Vernon, Margaret M, Yeh, Jay, and Donofrio, Mary T

Subjects
Infant Mortality, Pediatric, Lung, Genetics, Clinical Research, Perinatal Period - Conditions Originating in Perinatal Period, Reproductive health and childbirth, Good Health and Well Being, Canada, Echocardiography, Doppler, Color, Fetal Death, Fetal Heart, Humans, Predictive Value of Tests, Prognosis, Pulmonary Valve, Retrospective Studies, Risk Assessment, Risk Factors, Tetralogy of Fallot, Ultrasonography, Prenatal, United States, Ventricular Dysfunction, Left, Ventricular Dysfunction, Right, congenital heart disease, fetal cardiology, fetal echocardiography, prenatal diagnosis, tetralogy of Fallot with absent pulmonary valve, Cardiorespiratory Medicine and Haematology
Abstract

Background Tetralogy of Fallot with absent pulmonary valve is associated with high mortality, but it remains difficult to predict outcomes prenatally. We aimed to identify risk factors for mortality in a large multicenter cohort. Methods and Results Fetal echocardiograms and clinical data from 19 centers over a 10-year period were collected. Primary outcome measures included fetal demise and overall mortality. Of 100 fetuses, pregnancy termination/postnatal nonintervention was elected in 22. Of 78 with intention to treat, 7 (9%) died in utero and 21 (27%) died postnatally. With median follow-up of 32.9 months, no deaths occurred after 13 months. Of 80 fetuses with genetic testing, 46% had chromosomal abnormalities, with 22q11.2 deletion in 35%. On last fetal echocardiogram, at a median of 34.6 weeks, left ventricular dysfunction independently predicted fetal demise (odds ratio [OR], 7.4; 95% CI 1.3, 43.0; P=0.026). Right ventricular dysfunction independently predicted overall mortality in multivariate analysis (OR, 7.9; 95% CI 2.1-30.0; P=0.002). Earlier gestational age at delivery, mediastinal shift, left ventricular/right ventricular dilation, left ventricular dysfunction, tricuspid regurgitation, and Doppler abnormalities were associated with fetal and postnatal mortality, although few tended to progress throughout gestation on serial evaluation. Pulmonary artery diameters did not correlate with outcomes. Conclusions Perinatal mortality in tetralogy of Fallot with absent pulmonary valve remains high, with overall survival of 64% in fetuses with intention to treat. Right ventricular dysfunction independently predicts overall mortality. Left ventricular dysfunction predicts fetal mortality and may influence prenatal management and delivery planning. Mediastinal shift may reflect secondary effects of airway obstruction and abnormal lung development and is associated with increased mortality.

Published
2021

16. Impact of Socioeconomic Status, Race and Ethnicity, and Geography on Prenatal Detection of Hypoplastic Left Heart Syndrome and Transposition of the Great Arteries

Author

Krishnan, Anita, Jacobs, Marni B, Morris, Shaine A, Peyvandi, Shabnam, Bhat, Aarti H, Chelliah, Anjali, Chiu, Joanne S, Cuneo, Bettina F, Freire, Grace, Hornberger, Lisa K, Howley, Lisa, Husain, Nazia, Ikemba, Catherine, Kavanaugh-McHugh, Ann, Kutty, Shelby, Lee, Caroline, Lopez, Keila N, McBrien, Angela, Michelfelder, Erik C, Pinto, Nelangi M, Schwartz, Rachel, Stern, Kenan WD, Taylor, Carolyn, Thakur, Varsha, Tworetzky, Wayne, Wittlieb-Weber, Carol, Woldu, Kris, Donofrio, Mary T, Craft, Mary, Gramse, Heather, Moon-Grady, Anita, Lee, Wesley, Park, Dawn, and Wiener, Alysia

Subjects
Clinical Research, Cardiovascular, Pediatric, Heart Disease, Prevention, Good Health and Well Being, Cohort Studies, Ethnicity, Female, Geography, Humans, Hypoplastic Left Heart Syndrome, Male, Racial Groups, Retrospective Studies, Social Class, Transposition of Great Vessels, congenital heart disease, fetal development, social determinants of health, Fetal Heart Society, Cardiorespiratory Medicine and Haematology, Clinical Sciences, Public Health and Health Services, Cardiovascular System & Hematology
Abstract

BackgroundPrenatal detection (PND) has benefits for infants with hypoplastic left heart syndrome (HLHS) and transposition of the great arteries (TGA), but associations between sociodemographic and geographic factors with PND have not been sufficiently explored. This study evaluated whether socioeconomic quartile (SEQ), public insurance, race and ethnicity, rural residence, and distance of residence (distance and driving time from a cardiac surgical center) are associated with the PND or timing of PND, with a secondary aim to analyze differences between the United States and Canada.MethodsIn this retrospective cohort study, fetuses and infants

Published
2021

18. Prenatal cardiac care: Goals, priorities & gaps in knowledge in fetal cardiovascular disease: Perspectives of the Fetal Heart Society

Author

Pinto, Nelangi M, Morris, Shaine A, Moon-Grady, Anita J, and Donofrio, Mary T

Subjects
Perinatal Period - Conditions Originating in Perinatal Period, Clinical Research, Pediatric, Heart Disease, Cardiovascular, Reproductive health and childbirth, Good Health and Well Being, Fetal echocardiography, Perinatal cardiology, Prenatal cardiology, Congenital heart disease, Multidisciplinary collaboration, Fetal therapy, Cardiorespiratory Medicine and Haematology, Cardiovascular System & Hematology
Abstract

Perinatal cardiovascular care has evolved considerably to become its own multidisciplinary field of care. Despite advancements, there remain significant gaps in providing optimal care for the fetus, child, mother, and family. Continued advancement in detection and diagnosis, perinatal care and delivery planning, and prediction and improvement of morbidity and mortality for fetuses affected by cardiac conditions such as heart defects or functional or rhythm disturbances requires collaboration between the multiple types of specialists and providers. The Fetal Heart Society was created to formalize and support collaboration between individuals, stakeholders, and institutions. This article summarizes the challenges faced to create the infrastructure for advancement of the field and the measures the FHS is undertaking to overcome the barriers to support progress in the field of perinatal cardiac care.

Published
2020

19. Risk Factors for Mortality and Circulatory Outcome Among Neonates Prenatally Diagnosed With Ebstein Anomaly or Tricuspid Valve Dysplasia: A Multicenter Study

Author

Freud, Lindsay R, McElhinney, Doff B, Kalish, Brian T, Escobar‐Diaz, Maria C, Komarlu, Rukmini, Puchalski, Michael D, Jaeggi, Edgar T, Szwast, Anita L, Freire, Grace, Levasseur, Stéphanie M, Kavanaugh‐McHugh, Ann, Michelfelder, Erik C, Moon‐Grady, Anita J, Donofrio, Mary T, Howley, Lisa W, Tierney, Elif Seda Selamet, Cuneo, Bettina F, Morris, Shaine A, Pruetz, Jay D, van der Velde, Mary E, Kovalchin, John P, Ikemba, Catherine M, Vernon, Margaret M, Samai, Cyrus, Satou, Gary M, Gotteiner, Nina L, Phoon, Colin K, Silverman, Norman H, and Tworetzky, Wayne

Subjects
Pediatric, Perinatal Period - Conditions Originating in Perinatal Period, Lung, Cardiovascular, Heart Disease, Infant Mortality, Clinical Research, Good Health and Well Being, Blood Flow Velocity, Ebstein Anomaly, Echocardiography, Female, Heart Valve Diseases, Hospital Mortality, Humans, Infant, Newborn, Logistic Models, Male, Perinatal Mortality, Prenatal Diagnosis, Retrospective Studies, Risk Factors, Tricuspid Valve, congenital heart disease, Ebstein anomaly, mortality, neonate, outcome, palliation, right ventricle, tricuspid regurgitation, Cardiorespiratory Medicine and Haematology
Abstract

Background In a recent multicenter study of perinatal outcome in fetuses with Ebstein anomaly or tricuspid valve dysplasia, we found that one third of live-born patients died before hospital discharge. We sought to further describe postnatal management strategies and to define risk factors for neonatal mortality and circulatory outcome at discharge. Methods and Results This 23-center, retrospective study from 2005 to 2011 included 243 fetuses with Ebstein anomaly or tricuspid valve dysplasia. Among live-born patients, clinical and echocardiographic factors were evaluated for association with neonatal mortality and palliated versus biventricular circulation at discharge. Of 176 live-born patients, 7 received comfort care, 11 died

Published
2020

21. Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients

Author

Miyake, Christina Y., Lay, Erica J., Soler-Alfonso, Claudia, Glinton, Kevin E., Houck, Kimberly M., Tosur, Mustafa, Moran, Nancy E., Stephens, Sara B., Scaglia, Fernando, Howard, Taylor S., Kim, Jeffrey J., Pham, Tam Dam, Valdes, Santiago O., Li, Na, Murali, Chaya N., Zhang, Lilei, Kava, Maina, Yim, Deane, Beach, Cheyenne, Webster, Gregory, Liberman, Leonardo, Janson, Christopher M., Kannankeril, Prince J., Baxter, Samantha, Singer-Berk, Moriel, Wood, Jordan, Mackenzie, Samuel J., Sacher, Michael, Ghaloul-Gonzalez, Lina, Pedroza, Claudia, Morris, Shaine A., Ehsan, Saad A., Azamian, Mahshid S., and Lalani, Seema R.

Published
2023
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26. Caught in the Act: A Detailed Analysis of Cardiac Event Monitoring in a Cohort of Pediatric and ACHD Patients.

Author

Srivatsav, Ashwin, Thompson, Zachery J., Bruno, Michael A., Stephens, Sara B., Gutierrez, Maria Elena, Miyake, Christina Y., Morris, Shaine A., Dan Pham, Tam, Valdes, Santiago O., Kim, Jeffrey J., and Howard, Taylor S.

Subjects
ARRHYTHMIA diagnosis, CONGENITAL heart disease, PREDICTION models, HEART atrium, STATISTICAL significance, MULTIPLE regression analysis, FISHER exact test, AMBULATORY electrocardiography, RETROSPECTIVE studies, SUPRAVENTRICULAR tachycardia, MULTIVARIATE analysis, CHI-squared test, MANN Whitney U Test, DESCRIPTIVE statistics, PEDIATRICS, LONGITUDINAL method, ODDS ratio, MEDICAL records, ACQUISITION of data, ATRIAL fibrillation, TACHYCARDIA, ATRIAL flutter, HEART block, CONFIDENCE intervals, DATA analysis software, CHILDREN, ADULTS
Abstract

Background: Event monitors are being increasingly used in pediatric and adult congenital heart disease (ACHD) patients for arrhythmia evaluation. Data on their diagnostic yield are limited. Objectives: To evaluate the diagnostic yield of event monitors, patient characteristics associated with critical events, and clinical response to events. Methods: We retrospectively assessed event monitors prescribed to patients at our institution's Heart Center from 2017 to 2020. Thirty‐day event monitor tracings were reviewed by an electrophysiologist (EP) to identify critical events defined as supraventricular tachycardia (SVT, re‐entrant, atrial tachycardia, atrial flutter, and atrial fibrillation), ventricular tachycardia (VT), atrioventricular block, and pauses greater than 3 s. Patient characteristics and treatment data were collected. Characteristics associated with events were assessed using multivariable logistic regression. Trends in monitor prescription over time, diagnostic yield, and clinical response to events were analyzed. Results: 204/2330 (8.8%) event monitors had EP‐confirmed critical events. Critical events included SVT (51.5%), VT (38.5%), atrioventricular block (4%), and pauses (6%). 129/198 (65%) patients with critical events underwent treatment. Event monitoring usage increased by 52% between 2017 and 2020 (p < 0.0001). Complex CHD (OR 2.1, 95% CI 1.3–3.4, p = 0.004), cardiomyopathy (OR 2.9, 95% CI 1.5–4.8, p < 0.001), and EP‐ordered monitors (OR 1.6, 95% CI 1.2–2.1, p = 0.001) were more highly associated with critical events. Conclusion: Event monitor use is common, and critical events were captured in 8.8% of patients. The majority of patients with critical events underwent treatment. Factors associated with critical events include EPs as ordering providers, complex CHD, and cardiomyopathy. [ABSTRACT FROM AUTHOR]

Published
2024
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27. Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort

Author

Meester, Josephina A.N., Peeters, Silke, Van Den Heuvel, Lotte, Vandeweyer, Geert, Fransen, Erik, Cappella, Elizabeth, Dietz, Harry C., Forbus, Geoffrey, Gelb, Bruce D., Goldmuntz, Elizabeth, Hoskoppal, Arvind, Landstrom, Andrew P., Lee, Teresa, Mital, Seema, Morris, Shaine, Olson, Aaron K., Renard, Marjolijn, Roden, Dan M., Singh, Michael N., Selamet Tierney, Elif Seda, Tretter, Justin T., Van Driest, Sara L., Willing, Marcia, Verstraeten, Aline, Van Laer, Lut, Lacro, Ronald V., and Loeys, Bart L.

Published
2022
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28. Centers for Mendelian Genomics: A decade of facilitating gene discovery

Author

Adams, Marcia, Aguet, François, Akay, Gulsen, Anderson, Peter, Antonescu, Corina, Arachchi, Harindra M., Atik, Mehmed M., Austin-Tse, Christina A., Babb, Larry, Bacus, Tamara J., Bahrambeigi, Vahid, Balasubramanian, Suganthi, Bayram, Yavuz, Beaudet, Arthur L., Beck, Christine R., Belmont, John W., Below, Jennifer E., Bilguvar, Kaya, Boehm, Corinne D., Boerwinkle, Eric, Boone, Philip M., Bowne, Sara J., Brand, Harrison, Buckingham, Kati J., Byrne, Alicia B., Calame, Daniel, Campbell, Ian M., Cao, Xiaolong, Carvalho, Claudia, Chander, Varuna, Chang, Jaime, Chao, Katherine R., Chinn, Ivan K., Clarke, Declan, Collins, Ryan L., Cummings, Beryl, Dardas, Zain, Dawood, Moez, Delano, Kayla, DiTroia, Stephanie P., Doddapaneni, Harshavardhan, Du, Haowei, Du, Renqian, Duan, Ruizhi, Eldomery, Mohammad, Eng, Christine M., England, Eleina, Evangelista, Emily, Everett, Selin, Fatih, Jawid, Felsenfeld, Adam, Francioli, Laurent C., Frazar, Christian D., Fu, Jack, Gamarra, Emmanuel, Gambin, Tomasz, Gan, Weiniu, Gandhi, Mira, Ganesh, Vijay S., Garimella, Kiran V., Gauthier, Laura D., Giroux, Danielle, Gonzaga-Jauregui, Claudia, Goodrich, Julia K., Gordon, William W., Griffith, Sean, Grochowski, Christopher M., Gu, Shen, Gudmundsson, Sanna, Hall, Stacey J., Hansen, Adam, Harel, Tamar, Harmanci, Arif O., Herman, Isabella, Hetrick, Kurt, Hijazi, Hadia, Horike-Pyne, Martha, Hsu, Elvin, Hu, Jianhong, Huang, Yongqing, Hurless, Jameson R., Jahl, Steve, Jarvik, Gail P., Jiang, Yunyun, Johanson, Eric, Jolly, Angad, Karaca, Ender, Khayat, Michael, Knight, James, Kolar, J. Thomas, Kumar, Sushant, Lalani, Seema, Laricchia, Kristen M., Larkin, Kathryn E., Leal, Suzanne M., Lemire, Gabrielle, Lewis, Richard A., Li, He, Ling, Hua, Lipson, Rachel B., Liu, Pengfei, Lovgren, Alysia Kern, López-Giráldez, Francesc, MacMillan, Melissa P., Mangilog, Brian E., Mano, Stacy, Marafi, Dana, Marosy, Beth, Marshall, Jamie L., Martin, Renan, Marvin, Colby T., Mawhinney, Michelle, McGee, Sean, McGoldrick, Daniel J., Mehaffey, Michelle, Mekonnen, Betselote, Meng, Xiaolu, Mitani, Tadahiro, Miyake, Christina Y., Mohr, David, Morris, Shaine, Mullen, Thomas E., Murdock, David R., Murugan, Mullai, Muzny, Donna M., Myers, Ben, Neira, Juanita, Nguyen, Kevin K., Nielsen, Patrick M., Nudelman, Natalie, O’Heir, Emily, O’Leary, Melanie C., Ongaco, Chrissie, Orange, Jordan, Osei-Owusu, Ikeoluwa A., Paine, Ingrid S., Pais, Lynn S., Paschall, Justin, Patterson, Karynne, Pehlivan, Davut, Pelle, Benjamin, Penney, Samantha, Perez de Acha Chavez, Jorge, Pierce-Hoffman, Emma, Poli, Cecilia M., Punetha, Jaya, Radhakrishnan, Aparna, Richardson, Matthew A., Rodrigues, Eliete, Roote, Gwendolin T., Rosenfeld, Jill A., Ryke, Erica L., Sabo, Aniko, Sanchez, Alice, Schrauwen, Isabelle, Scott, Daryl A., Sedlazeck, Fritz, Serrano, Jillian, Shaw, Chad A., Shelford, Tameka, Shively, Kathryn M., Singer-Berk, Moriel, Smith, Joshua D., Snow, Hana, Snyder, Grace, Solomonson, Matthew, Son, Rachel G., Song, Xiaofei, Stankiewicz, Pawel, Stephan, Taylorlyn, Sutton, V. Reid, Sveden, Abigail, Sánchez, Diana Cornejo, Tackett, Monica, Talkowski, Michael, Threlkeld, Machiko S., Tiao, Grace, Udler, Miriam S., Vail, Laura, Valivullah, Zaheer, Valkanas, Elise, VanNoy, Grace E., Wang, Qingbo S., Wang, Gao, Wang, Lu, Wangler, Michael F., Watts, Nicholas A., Weisburd, Ben, Weiss, Jeffrey M., Wheeler, Marsha M., White, Janson J., Williamson, Clara E., Wilson, Michael W., Wiszniewski, Wojciech, Withers, Marjorie A., Witmer, Dane, Witzgall, Lauren, Wohler, Elizabeth, Wojcik, Monica H., Wong, Isaac, Wood, Jordan C., Wu, Nan, Xing, Jinchuan, Yang, Yaping, Yi, Qian, Yuan, Bo, Zeiger, Jordan E., Zhang, Chaofan, Zhang, Peng, Zhang, Yan, Zhang, Xiaohong, Zhang, Yeting, Zhang, Shifa, Zoghbi, Huda, van den Veyver, Igna, Baxter, Samantha M., Posey, Jennifer E., Lake, Nicole J., Sobreira, Nara, Chong, Jessica X., Buyske, Steven, Blue, Elizabeth E., Chadwick, Lisa H., Coban-Akdemir, Zeynep H., Doheny, Kimberly F., Davis, Colleen P., Lek, Monkol, Wellington, Christopher, Jhangiani, Shalini N., Gerstein, Mark, Gibbs, Richard A., Lifton, Richard P., MacArthur, Daniel G., Matise, Tara C., Lupski, James R., Valle, David, Bamshad, Michael J., Hamosh, Ada, Mane, Shrikant, Nickerson, Deborah A., Rehm, Heidi L., and O’Donnell-Luria, Anne

Published
2022
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31. Publisher Correction: Marfan syndrome

Author

Milewicz, Dianna M., Braverman, Alan C., De Backer, Julie, Morris, Shaine A., Boileau, Catherine, Maumenee, Irene H., Jondeau, Guillaume, Evangelista, Arturo, and Pyeritz, Reed E.

Published
2022
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34. Mitral Annular Disjunction in Heritable Thoracic Aortic Disease: Insights From the Montalcino Aortic Consortium.

Author

Asokan, Kishan L., Landes, Jennifer R., Renders, Wannes, Muiño Mosquera, Laura, De Backer, Julie, Jantzen, David W., Yetman, Anji T., Teixido-Tura, Gisela, Evangelista, Arturo, Jeremy, Richmond, Jones, Edward G., Morris, Shaine, Doan, Tam, Ouzonian, Maral, Braverman, Alan, Jondeau, Guillaume, Milleron, Olivier, Milewicz, Dianna M., and Prakash, Siddharth K.

Published
2024
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35. Cardiovascular Management of Aortopathy in Children: A Scientific Statement From the American Heart Association.

Author

Morris, Shaine A., Chair, Vice, Flyer, Jonathan N., Yetman, Anji T., Quezada, Emilio, Cappella, Elizabeth S., Dietz, Harry C., Tierney, M. Seda, and Lacro, Ronald V.

Subjects
*AORTIC valve diseases, *SMOOTH muscle contraction, *EHLERS-Danlos syndrome, *AORTIC aneurysms, *MITRAL valve
Abstract

Aortopathy encompasses a spectrum of conditions predisposing to dilation, aneurysm, dissection, or rupture of the aorta and other blood vessels. Aortopathy is diagnosed commonly in children, from infancy through adolescence, primarily affecting the thoracic aorta, with variable involvement of the peripheral vasculature. Pathogeneses include connective tissue disorders, smooth muscle contraction disorders, and congenital heart disease, including bicuspid aortic valve, among others. The American Heart Association has published guidelines for diagnosis and management of thoracic aortic disease. However, these guidelines are predominantly focused on adults and cannot be applied adeptly to growing children with emerging features, growth and developmental changes, including puberty, and different risk profiles compared with adults. Management to reduce risk of progressive aortic dilation and dissection or rupture in children is complex and involves genetic testing, cardiovascular imaging, medical therapy, lifestyle modifications, and surgical guidance that differ in many ways from adult management. Pediatric practice varies widely, likely because aortopathy is pathogenically heterogeneous, including genetic and nongenetic conditions, and there is limited published evidence to guide care in children. To optimize care and reduce variation in management, experts in pediatric aortopathy convened to generate this scientific statement regarding the cardiovascular care of children with aortopathy. Available evidence and expert consensus were combined to create this scientific statement. The most common causes of pediatric aortopathy are reviewed. This document provides a general framework for cardiovascular management of aortopathy in children, while allowing for modification based on the personal and familial characteristics of each child and family. [ABSTRACT FROM AUTHOR]

Published
2024
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36. Bicuspid Aortic Valve Disease with Early-Onset Complications: Characteristics and Aortic Outcomes.

Author

Selbst, Maximilian A., Ward, Colin R., Svetgoff, Megan L., Michelena, Hector I., Sabate-Rotes, Anna, 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., Morris, Shaine A., and McBride, Kim L.

Subjects
CONGENITAL heart disease, YOUNG adults, THORACIC aneurysms, MITRAL valve, AORTIC valve diseases
Abstract

Bicuspid aortic valve (BAV) is the most common congenital heart malformation in adults, but it can also cause childhood-onset complications. The presentation and clinical course of young adults who present due to BAV complications are relatively uncharacterized. In a multicenter study, we found that young people who experience significant complications related to BAV disease before age 30 are distinguished from the majority of BAV cases that manifest after age 50 by a relatively severe clinical course, with higher rates of surgical interventions, more frequent second interventions, and a greater burden of congenital heart malformations. These observations highlight the need for prompt recognition, regular lifelong surveillance, and targeted interventions to address the significant health burdens of patients with early-onset BAV complications. [ABSTRACT FROM AUTHOR]

Published
2024
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37. Mitral annular disjunction and its progression during childhood in Marfan syndrome.

Author

Doan, Tam T, Chavez, Alejandra Iturralde, Valdes, Santiago O, Weigand, Justin D, Wilkinson, James C, Parthiban, Anitha, Stephens, Sara B, Pignatelli, Ricardo H, and Morris, Shaine A

Subjects
RISK assessment, STATISTICAL correlation, RESEARCH funding, MAGNETIC resonance imaging, DESCRIPTIVE statistics, MITRAL valve diseases, STATISTICS, CONFIDENCE intervals, MARFAN syndrome, DISEASE progression, ECHOCARDIOGRAPHY, DISEASE risk factors, DISEASE complications, CHILDREN
Abstract

Aims Data on mitral annular disjunction (MAD) in children with Marfan syndrome (MFS) are sparse. To investigate the diagnostic yield of MAD by echocardiography and cardiac magnetic resonance imaging (CMR), its prevalence and progression during childhood. Methods and results We included patients <21 years old with MFS, defined by 2010 Ghent criteria and a pathogenic FBN1 variant or ectopia lentis. Two readers measured systolic separation between the mitral valve (MV) posterior hinge point and left ventricular (LV) myocardium on initial and subsequent imaging. MAD was defined as MV-LV separation ≥2 mm, MV prolapse (MVP) as atrial displacement ≥2 mm. Kappa coefficients evaluated echocardiogram–CMR agreement. Bland–Altman and intraclass correlation coefficients (ICCs) assessed inter-rater and inter-modality reliability. Univariable mixed-effects linear regression was used to evaluate longitudinal changes of MAD. MAD was detected in 60% (110/185) eligible patients. MVP was present in 48% (53/110) of MAD and MAD in 90% (53/59) of MVP. MAD detection by CMR and echocardiography had 96% overall agreement (Kappa = 0.89, P < 0.001) and a 0.32 mm estimate bias (95% CI 0.00, 0.65). ICC by echocardiography, CMR, and between modalities were 0.97 (95% CI 0.93, 0.98), 0.92 (95% CI 0.79, 0.97), and 0.91 (95% CI 0.85, 0.94), respectively. MAD was associated with aortic root dilation (P < 0.001). MAD was found in children of all ages, increased +0.18 mm/year (95% CI +0.14, +0.22) during a median duration of 5.5 years (IQR 3.1, 7.5 years). MAD indexed by height yielded a constant value +0.0002 mm/m/year (95% CI −0.0002, +0.0005 mm/m/year). Conclusion MAD was common in pediatric MFS and was associated with aortic root dilation. MAD detection by echocardiography and CMR was highly reliable, suggesting that routine assessment in MFS is feasible. MAD was present in neonates and progressed over time but remained constant when indexing by height. Further studies are needed to evaluate MAD as a biomarker for clinical outcomes in pediatric MFS. [ABSTRACT FROM AUTHOR]

Published
2024
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39. Variants in ADRB1 and CYP2C9: Association with Response to Atenolol and Losartan in Marfan Syndrome

Author

Van Driest, Sara L., Sleeper, Lynn A., Gelb, Bruce D., Morris, Shaine A., Dietz, Harry C., Forbus, Geoffrey A., Goldmuntz, Elizabeth, Hoskoppal, Arvind, James, Jeanne, Lee, Teresa M., Levine, Jami C., Li, Jennifer S., Loeys, Bart L., Markham, Larry W., Meester, Josephina A.N., Mital, Seema, Mosley, Jonathan D., Olson, Aaron K., Renard, Marjolijn, Shaffer, Christian M., Sharkey, Angela, Young, Luciana, Lacro, Ronald V., and Roden, Dan M.

Published
2020
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41. Surgical repair of bicuspid aortopathy at small diameters: Clinical and institutional factors

Author

Bossone, Eduardo, Citro, Rodolfo, Body, Simon, Muehlschlegel, J. Daniel, Shahram, Jasmine T., Nguyen, Thy B., Stefano Nistri, Vicenza, Gilon, Dan, Durst, Ronen, de Vincentiis, Carlo, Pluchinotta, Francesca R., Sundt, Thoralf M., Michelena, Hector I., Limongelli, Giuseppe, McCarthy, Patrick M., Malaisrie, S. Chris, Bavishi, Aakash, Bissell, Malenka M., Huggins, Gordon S., Dayan, Victor, Dagenais, Francois, Corte, Alessandro Della, Girdsaukas, Evaldas, Yang, Bo, Eagle, Kim, Prakash, Siddharth K., Milewicz, Dianna M., Nguyen, Tom C., Sandhu, Harleen K., Safi, Hazim J., Denny, Josh C., Evangelista, Arturo, Galian-Gay, Laura, Eagle, Kim A., Ravekes, Williams, Dietz, Harry C., Holmes, Kathryn W., Habashi, Jennifer, LeMaire, Scott A., Coselli, Joseph S., Morris, Shaine A., Maslen, Cheryl L., Song, Howard K., Silberbach, G. Michael, Pyeritz, Reed E., Bavaria, Joseph E., Milewski, Karianna, Devereux, Richard B., Weinsaft, Jonathan W., Roman, Mary J., Shohet, Ralph V., McDonnell, Nazli, Asch, Federico M., Tolunay, H. Eser, Desvigne-Nickens, Patrice, Tseng, Hung, Kroner, Barbara L., Nissen, Alexander P., Truong, Van Thi Thanh, Alhafez, Bader A., Puthumana, Jyothy J., Estrera, Anthony L., and Body, Simon C.

Published
2020
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42. Open Thoracoabdominal Aortic Repair in Patients With Heritable Aortic Disease in the GenTAC Registry

Author

Asch, Federico, Bavaria, Joseph, Desvigne-Nickens, Patrice, Devereux, Richard, Dietz, Harry, Eagle, Kim, Habashi, Jennifer, Holmes, Kathryn, Kroner, Barbara, LeMaire, Scott, McDonnell, Nazli, Maslen, Cheryl, Milewicz, Dianna, Milewski, Rita, Morris, Shaine, Prakash, Siddharth, Pyeritz, Reed, Ravekes, William, Roman, Mary, Shohet, Ralph, Silberbach, G. Michael, Song, Howard, Tolunay, H. Eser, Tseng, Hung, Weinsaft, Jonathan, Frankel, William C., Song, Howard K., Milewski, Rita K., Shalhub, Sherene, Pugh, Norma L., Eagle, Kim A., Roman, Mary J., Pyeritz, Reed E., Maslen, Cheryl L., Ravekes, William J., Milewicz, Dianna M., Coselli, Joseph S., and LeMaire, Scott A.

Published
2020
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46. Mitral Annular Disjunction in Heritable Thoracic Aortic Disease: Insights From the Montalcino Aortic Consortium

Author

Asokan, Kishan Lyju, primary, Landes, Jennifer R, additional, Renders, Wannes, additional, Muiño-Mosquera, Laura, additional, De Backer, Julie, additional, Jantzen, David W, additional, Yetman, Anji T., additional, Teixido-Tura, Gisela, additional, Evangelista, Arturo, additional, Jeremy, Richmond W, additional, Jones, Edward George, additional, Morris, Shaine A, additional, Doan, Tam T, additional, Ouzounian, Maral, additional, Braverman, Alan C., additional, Jondeau, Guillaume, additional, Milleron, Olivier, additional, Prakash, Siddharth K, additional, and Milewicz, Dianna M., additional

Published
2024
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