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

Authors: Mansoorshahi, Sara ¹, Yetman, Anji T. ², Bissell, Malenka M. ³, Kim, Yuli Y. ⁴, Michelena, Hector I. ⁵, De Backer, Julie ⁶, Mosquera, Laura Muiño ⁶, Hui, Dawn S. ⁷, Caffarelli, Anthony ⁸, Andreassi, Maria G. ⁹, Foffa, Ilenia ⁹, Guo, Dongchuan ¹, Citro, Rodolfo ¹⁰, De Marco, Margot ¹¹, Tretter, Justin T. ¹², Morris, Shaine A. ¹³, Body, Simon C. ¹⁴, Chong, Jessica X. ¹⁵, Bamshad, Michael J. ¹⁵, Milewicz, Dianna M. ¹, Prakash, Siddharth K. ^{1, ∗}

Source: In The American Journal of Human Genetics 3 October 2024 111(10):2219-2231

An FBN1 deep intronic variant is associated with pseudoexon formation and a variable Marfan phenotype in a five generation family

Authors: Guo, Dong‐chuan, Duan, Xueyan, Mimnagh, Kathleen, Cecchi, Alana C., Marin, Isabella C., Yu, Yang, Velasco, Walter V., Lee, Kwanghyuk, Zhu, Xue, Murdock, David R., Leal, Suzanne M., Wheeler, Marsha M., Smith, Josh, Bamshad, Michael J., Milewicz, Dianna M.

Source: Clinical genetics. 103(6):704-708

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100181663384.0x000001&indx=1&recIds=ETOCvdc_100181663384.0x000001

Cholesterol-Induced Phenotypic Modulation of Smooth Muscle Cells to Macrophage/Fibroblast–like Cells Is Driven by an Unfolded Protein Response

Authors: Chattopadhyay, Abhijnan, Kwartler, Callie S., Kaw, Kaveeta, Li, Yanming, Kaw, Anita, Chen, Jiyuan, LeMaire, Scott A., Shen, Ying H., Milewicz, Dianna M.

Source: Arteriosclerosis, thrombosis, and vascular biology. 43(1):302-316

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100178242613.0x000001&indx=1&recIds=ETOCvdc_100178242613.0x000001

2022 ACC/AHA guideline for the diagnosis and management of aortic disease: A report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines

Authors: Isselbacher, Eric M., Preventza, Ourania, Hamilton Black, James, III, Augoustides, John G., Beck, Adam W., Bolen, Michael A., Braverman, Alan C., Bray, Bruce E., Brown-Zimmerman, Maya M., Chen, Edward P., Collins, Tyrone J., DeAnda, Abe, Jr., Fanola, Christina L., Girardi, Leonard N., Hicks, Caitlin W., Hui, Dawn S., Schuyler Jones, William, Kalahasti, Vidyasagar, Kim, Karen M., Milewicz, Dianna M., Oderich, Gustavo S., Ogbechie, Laura, Promes, Susan B., Ross, Elsie Gyang, Schermerhorn, Marc L., Singleton Times, Sabrina, Tseng, Elaine E., Wang, Grace J., Woo, Y. Joseph, Faxon, David P., Upchurch, Gilbert R., Jr, Aday, Aaron W., Azizzadeh, Ali, Boisen, Michael, Hawkins, Beau, Kramer, Christopher M., Luc, Jessica G.Y., MacGillivray, Thomas E., Malaisrie, S. Christopher, Osteen, Kathryn, Patel, Himanshu J., Patel, Parag J., Popescu, Wanda M., Rodriguez, Evelio, Sorber, Rebecca, Tsao, Philip S., Santos Volgman, Annabelle, Beckman, Joshua A., Otto, Catherine M., O'Gara, Patrick T., Armbruster, Anastasia, Birtcher, Kim K., de las Fuentes, Lisa, Deswal, Anita, Dixon, Dave L., Gorenek, Bulent, Haynes, Norrisa, Hernandez, Adrian F., Joglar, José A., Jones, W. Schuyler, Mark, Daniel, Mukherjee, Debabrata, Palaniappan, Latha, Piano, Mariann R., Rab, Tanveer, Spatz, Erica S., Tamis-Holland, Jacqueline E.

Source: In The Journal of Thoracic and Cardiovascular Surgery November 2023 166(5):e182-e331

A mixed method approach to understanding the impact of COVID-19 on patients with or at risk for aortic dissection

Authors: Case, Melanie, Cotter, Novelett E., David, Carmen C., Fasano, Mark, Goldenberg, Richard, Howitt, Jake, Söderlund, Timo T., Trotter, Debra, Rabin, Asaf, Boehler-Tatman, Mattie, Russo, Melissa L., Drudi, Laura Marie, Marks, Laura L., Yousif, Maisoon D., Hoffstaetter, Tabea, Taubenfeld, Ella, Vemulapalli, Sreekanth, Campos, Chrisanne S., Rusche, Lindsey, Pena, Robert C.F., Mussa, Firas F., MacCarrick, Gretchen, Goldsborough, Earl, III, Samuel, Christeen, Xu, Lillian, Mouawad, Nicolas J., Yassa, Eanas S., Teng, Xiaoyi, Politano, Amani, Teindl, Jesse, Bloom, Lara, Gluck, Rebecca, O'Neal, Meredith Ford, Grima, Josephine, Masciale, Eileen, Ota, Takeyoshi, Wright, Katelyn, Hakim, Alan J., Owens, Gareth, Arnaoutakis, George J., Judelson, Dejah, D'Oria, Mario, del Rio-Sola, Lurdes, Ajalat, Mark, Chau, Marvin, Talutis, Stephanie D., Woo, Karen, Wohlauer, Max V., Yi, Jeniann A., Eagle, Kim A., Bowman, Marion A. Hofmann, Kline-Rogers, Eva, Kim, Hyein, Henoud, Claudine, Damrauer, Scott, Krol, Emilia, Afifi, Rana O., Cecchi, Alana C., Drake, Madeline, Estrera, Anthony, Hebert, Avery M, Milewicz, Dianna M., Prakash, Siddharth K., Roberts, Aaron W., Sandhu, Harleen, Smith-Washington, Akili, Tanaka, Akiko, Watson, Jacob, Ahmad, Myra, Albright, Catherine M., Burke, Christopher R., Byers, Peter H., Kennedy, L'Oreal, Lawrence, Sarah O., Lee, Jenney R., Medina, Jonathan, Nishath, Thamanna, Pham, Julie, Segal, Courtney, Shalhub, Sherene, Soto, Michael, Catalan, Linell, Patterson, Megan, Ilonzo, Nicole, Eagle, Kim, Byers, Peter, Klein-Rogers, Eva, Milewicz, Dianna, Mussa, Firas, Soderlund, Timo, Cotter, Novelette

Source: In Seminars in Vascular Surgery March 2022 35(1):100-109

Midterm outcomes of aortic root surgery in patients with Marfan syndrome: A prospective, multicenter, comparative study

Authors: Coselli, Joseph S., Volguina, Irina V., LeMaire, Scott A., Connolly, Heidi M., Sundt, Thoralf M., Milewicz, Dianna M., Dietz, Harry C., Amarasekara, Hiruni S., Green, Susan Y., Zhang, Qianzi, Schaff, Hartzell V., Miller, D. Craig

Source: In The Journal of Thoracic and Cardiovascular Surgery May 2023 165(5):1790-1799

Atrial Standstill in the Pediatric Population: A Multi-Institution Collaboration

Authors: Howard, Taylor S., Chiang, David Y., Ceresnak, Scott R., Ladouceur, Virginie Beausejour, Whitehill, Robert D., Czosek, Richard J., Knilans, Timothy K., Ahnfeldt, Agnethe M., Borresen, Malene Lando, Jaeggi, Edgar, Udupa, Sharmila, Gow, Robert, Moore, Jeremy P., Galloti, Roberto G., Mah, Doug Y., Kim, Jeffrey J., Valdes, Santiago O., Milewicz, Dianna M., Miyake, Christina Y.

Source: In JACC: Clinical Electrophysiology January 2023 9(1):57-69

Open Thoracoabdominal Aortic Repair in Patients With Heritable Aortic Disease in the GenTAC Registry

Authors: 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., LeMaire, Scott A.

Source: In The Annals of Thoracic Surgery May 2020 109(5):1378-1384

Aortic root dilatation and dilated cardiomyopathy in an adult with Tatton‐Brown‐Rahman syndrome

Authors: Cecchi, Alana C., Haidar, Amier, Marin, Isabella, Kwartler, Callie S., Prakash, Siddharth K., Milewicz, Dianna M.

Source: American journal of medical genetics.Part A. 188(2):628-634

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100138891185.0x000001&indx=1&recIds=ETOCvdc_100138891185.0x000001

Preventing Cholesterol-Induced Perk (Protein Kinase RNA-Like Endoplasmic Reticulum Kinase) Signaling in Smooth Muscle Cells Blocks Atherosclerotic Plaque Formation

Authors: Chattopadhyay, Abhijnan, Guan (关蒲骏), Pujun, Majumder, Suravi, Kaw, Kaveeta, Zhou (周桢), Zhen, Zhang, Chen, Prakash, Siddharth K., Kaw, Anita, Buja, L. Maximillian, Kwartler, Callie S., Milewicz, Dianna M.

Source: Arteriosclerosis, thrombosis, and vascular biology. 42(8):1005-1022

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100195073742.0x000001&indx=1&recIds=ETOCvdc_100195073742.0x000001

2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines

Authors: Isselbacher, Eric M., Preventza, Ourania, Hamilton Black, James, Augoustides, John G., Beck, Adam W., Bolen, Michael A., Braverman, Alan C., Bray, Bruce E., Brown-Zimmerman, Maya M., Chen, Edward P., Collins, Tyrone J., DeAnda, Abe, Fanola, Christina L., Girardi, Leonard N., Hicks, Caitlin W., Hui, Dawn S., Schuyler Jones, William, Kalahasti, Vidyasagar, Kim, Karen M., Milewicz, Dianna M., Oderich, Gustavo S., Ogbechie, Laura, Promes, Susan B., Gyang Ross, Elsie, Schermerhorn, Marc L., Singleton Times, Sabrina, Tseng, Elaine E., Wang, Grace J., Woo, Y. Joseph

Source: Circulation. 146(24):e334-e482

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100185501643.0x000001&indx=1&recIds=ETOCvdc_100185501643.0x000001

Current state and future directions of genomic medicine in aortic dissection: A path to prevention and personalized care

Authors: Cecchi, Alana C., Drake, Madeline, Campos, Chrisanne, Howitt, Jake, Medina, Jonathan, Damrauer, Scott M., Shalhub, Sherene, Milewicz, Dianna M.

Source: Seminars in vascular surgery. 35(1):51-59

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100180469255.0x000001&indx=1&recIds=ETOCvdc_100180469255.0x000001

2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease

Authors: Isselbacher, Eric M., Preventza, Ourania, Hamilton Black III, James, Augoustides, John G., Beck, Adam W., Bolen, Michael A., Braverman, Alan C., Bray, Bruce E., Brown-Zimmerman, Maya M., Chen, Edward P., Collins, Tyrone J., DeAnda, Abe, Fanola, Christina L., Girardi, Leonard N., Hicks, Caitlin W., Hui, Dawn S., Jones, William Schuyler, Kalahasti, Vidyasagar, Kim, Karen M., Milewicz, Dianna M., Oderich, Gustavo S., Ogbechie, Laura, Promes, Susan B., Ross, Elsie Gyang, Schermerhorn, Marc L., Times, Sabrina Singleton, Tseng, Elaine E., Wang, Grace J., Woo, Y. Joseph

Source: Journal of the American College of Cardiology. 80(24):e223-e393

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100178906730.0x000001&indx=1&recIds=ETOCvdc_100178906730.0x000001

A mixed method approach to understanding the impact of COVID-19 on patients with or at risk for aortic dissection

Authors: Lee, Jenney R., Segal, Courtney, Howitt, Jake, Lawrence, Sarah O., Grima, Josephine, Eagle, Kim, Woo, Karen, Byers, Peter, Klein-Rogers, Eva, Milewicz, Dianna, Mussa, Firas, Soderlund, Timo, Cotter, Novelette, Case, Melanie, Trotter, Debra, Shalhub, Sherene

Source: Seminars in vascular surgery. 35(1):100-109

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100178607584.0x000001&indx=1&recIds=ETOCvdc_100178607584.0x000001

Cardiovascular Outcomes in Aortopathy

Authors: Holmes, Kathryn W., Markwardt, Sheila, Eagle, Kim A., Devereux, Richard B., Weinsaft, Jonathan W., Asch, Federico M., LeMaire, Scott A., Maslen, Cheryl L., Song, Howard K., Milewicz, Dianna M., Prakash, Siddharth K., Guo, Dongchuan, Morris, Shaine A., Pyeritz, Reed E., Milewski, Rita C., Ravekes, William J., Dietz, H.C., Shohet, Ralph V., Silberbach, Michael, Roman, Mary J.

Source: Journal of the American College of Cardiology. 79(21):2069-2081

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100164545075.0x000001&indx=1&recIds=ETOCvdc_100164545075.0x000001

Spontaneous coronary artery dissection is infrequent in individuals with heritable thoracic aortic disease despite partially shared genetic susceptibility

Authors: Murad, Andrea M., Hill, Hannah L., Wang, Yu, Ghannam, Michael, Yang, Min‐Lee, Pugh, Norma L., Asch, Federico M., Hornsby, Whitney, Driscoll, Anisa, McNamara, Jennifer, Willer, Cristen J., Regalado, Ellen S., Milewicz, Dianna M., Eagle, Kim A., Ganesh, Santhi K.

Source: American journal of medical genetics.Part A. 188(5):1448-1456

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100146658770.0x000001&indx=1&recIds=ETOCvdc_100146658770.0x000001

Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome

Authors: Kaw, Anita, Kaw, Kaveeta, Hostetler, Ellen M., Beleza‐Meireles, Ana, Smith‐Collins, Adam, Armstrong, Catherine, Scurr, Ingrid, Cotts, Timothy, Aatre, Rajani, Bamshad, Michael J., Earl, Dawn, Groner, Abraham, Agre, Katherine, Raveh, Yehuda, Kwartler, Callie S., Milewicz, Dianna M.

Source: American journal of medical genetics.Part A. 188(8):2389-2396

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100155931780.0x000001&indx=1&recIds=ETOCvdc_100155931780.0x000001

Non-canonical splice variants in thoracic aortic dissection cases and Marfan syndrome with negative genetic testing.

Authors: Murdock, David R., Guo, Dong-chuan, DePaolo, John S., Schwarze, Ulrike, Duan, Xue-yan, Cecchi, Alana C., Marin, Isabella C., Tang, YingYing, Chong, Jessica X., Bamshad, Michael J., Leppig, Kathleen A., Byers, Peter H., Damrauer, Scott M., Milewicz, Dianna M.

Source: NPJ Genomic Medicine; 3/21/2025, Vol. 10 Issue 1, p1-9, 9p

Inducing hypertension in Myh11 ^R247C/R247C mice triggers aortic dissections with increased focal adhesion kinase signaling.

Authors: Kwartler, Callie S., Wang, Shanzhi, Zhou, Zhen, Guan, Pujun, Yu, Yang, Duan, Xue-Yan, Zhang, Theodore, Chen, Jiyuan, Davis, Elaine C., Milewicz, Dianna M.

Source: Frontiers in Cardiovascular Medicine; 2025, p1-6, 6p

Implementation of telemedicine in the care of patients with aortic dissection

Authors: Case, Melanie, Cotter, Novelett E., David, Carmen C., Fasano, Mark, Goldenberg, Richard, Howitt, Jake, Söderlund, Timo T., Trotter, Debra, Rabin, Asaf, Boehler-Tatman, Mattie, Russo, Melissa L., Drudi, Laura Marie, Marks, Laura L., Yousif, Maisoon D., Hoffstaetter, Tabea, Taubenfeld, Ella, Vemulapalli, Sreekanth, Campos, Chrisanne S., Rusche, Lindsey, Pena, Robert C.F., Mussa, Firas F., MacCarrick, Gretchen, Goldsborough, Earl, III, Samuel, Christeen, Xu, Lillian, Mouawad, Nicolas J., Yassa, Eanas S., Teng, Xiaoyi, Politano, Amani, Teindl, Jesse, Bloom, Lara, Gluck, Rebecca, O'Neal, Meredith Ford, Grima, Josephine, Masciale, Eileen, Ota, Takeyoshi, Wright, Katelyn, Hakim, Alan J., Owens, Gareth, Arnaoutakis, George J., Judelson, Dejah, D'Oria, Mario, Rio-Sola, Lurdes del, Ajalat, Mark, Chau, Marvin, Talutis, Stephanie D., Woo, Karen, Wohlauer, Max V., Yi, JeniannA., Eagle, Kim A., Bowman, Marion A. Hofmann, MS, Eva Kline-Rogers, Kim, Hyein, Henoud, Claudine, Damrauer, Scott, Krol, Emilia, Afifi, Rana O., Cecchi, Alana C., Drake, Madeline, Estrera, Anthony, Hebert, Avery M, Milewicz, Dianna M., Prakash, Siddharth K., Roberts, Aaron W., Sandhu, Harleen, Smith-Washington, Akili, Tanaka, Akiko, Watson, Jacob, Ahmad, Myra, Albright, Catherine M., Burke, Christopher R., Byers, Peter H., Kennedy, L'Oreal, Lawrence, Sarah O., Lee, Jenney R., Medina, Jonathan, Nishath, Thamanna, Pham, Julie, Segal, Courtney, Shalhub, Sherene, Soto, Michael, Catalan, Linell, Patterson, Megan, Ilonzo, Nicole, Wright, Katie, Cotter, Novelett, Yi, Jeniann A., Drudi, Laura M.

Source: In Seminars in Vascular Surgery March 2022 35(1):43-50