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1. Aortic disease and cardiomyopathy in patients with a novel DNMT3A gene variant causing Tatton-Brown–Rahman syndrome

Author

Dovile Zebrauskiene, Egle Sadauskiene, Justas Dapkunas, Visvaldas Kairys, Joris Balciunas, Aleksandras Konovalovas, Ruta Masiuliene, Gunda Petraityte, Nomeda Valeviciene, Mindaugas Mataciunas, Jurate Barysiene, Violeta Mikstiene, Migle Tomkuviene, and Egle Preiksaitiene

Subjects
Tatton-Brown–Rahman syndrome, DNMT3A, DNA methylation, Transcription, Aortic dilatation, Cardiomyopathy, Medicine, Genetics, QH426-470
Abstract

Abstract Tatton-Brown–Rahman syndrome (TBRS) is a rare congenital genetic disorder caused by autosomal dominant pathogenic variants in the DNA methyltransferase DNMT3A gene. Typical TBRS clinical features are overgrowth, intellectual disability, and minor facial anomalies. However, since the syndrome was first described in 2014, a widening spectrum of abnormalities is being described. Cardiovascular abnormalities are less commonly reported but can be a major complication of the syndrome. This article describes a family of three individuals diagnosed with TBRS in adulthood and highlights the variable expression of cardiovascular features. A 34-year-old proband presented with progressive aortic dilatation, mitral valve (MV) regurgitation, left ventricular (LV) dilatation, and ventricular arrhythmias. The affected family members (mother and brother) were diagnosed with MV regurgitation, LV dilatation, and arrhythmias. Exome sequencing and computational protein analysis suggested that the novel familial DNMT3A mutation Ser775Tyr is located in the methyltransferase domain, however, distant from the active site or DNA-binding loops. Nevertheless, this bulky substitution may have a significant effect on DNMT3A protein structure, dynamics, and function. Analysis of peripheral blood cfDNA and transcriptome showed shortened mononucleosome fragments and altered gene expression in a number of genes related to cardiovascular health and of yet undescribed function, including several lncRNAs. This highlights the importance of epigenetic regulation by DNMT3A on cardiovascular system development and function. From the clinical perspective, we suggest that new patients diagnosed with congenital DNMT3A variants and TBRS require close examination and follow-up for aortic dilatation and valvular disease because these conditions can progress rapidly. Moreover, personalized treatments, based on the specific DNMT3A variants and the different pathways of their function loss, can be envisioned in the future.

Published
2024
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2. Impact of COVID-19 Pandemic on Cardiovascular Testing in Asia

Author

Takashi Kudo, MD, PhD, Ryan Lahey, MD, PhD, Cole B. Hirschfeld, MD, Michelle C. Williams, MBChB, PhD, Bin Lu, MD, PhD, Mirvat Alasnag, MD, Mona Bhatia, MD, Hee-Seung Henry Bom, MD, PhD, Tairkhan Dautov, MD, Reza Fazel, MD, MSc, Ganesan Karthikeyan, MD, Felix Y.J. Keng, MBBS, Ronen Rubinshtein, MD, Nathan Better, MBBS, Rodrigo Julio Cerci, MD, Sharmila Dorbala, MD, MPH, Paolo Raggi, MD, Leslee J. Shaw, PhD, Todd C. Villines, MD, João V. Vitola, MD, PhD, Andrew D. Choi, MD, Eli Malkovskiy, Benjamin Goebel, BS, Yosef A. Cohen, BA, Michael Randazzo, MD, Thomas N.B. Pascual, MD, Yaroslav Pynda, MSc, Maurizio Dondi, MD, PhD, Diana Paez, MD, MEd, Andrew J. Einstein, MD, PhD, Andrew J. Einstein, Diana Paez, Maurizio Dondi, Nathan Better, Rodrigo Cerci, Sharmila Dorbala, Thomas N.B. Pascual, Paolo Raggi, Leslee J. Shaw, Todd C. Villines, Joao V. Vitola, Michelle C. Williams, Yaroslav Pynda, Gerd Hinterleitner, Yao Lu, Olga Morozova, Zhuoran Xu, Cole B. Hirschfeld, Yosef Cohen, Benjamin Goebel, Michael Randazzo, Andrew Choi, Juan Lopez-Mattei, Purvi Parwani, Mohammad Nawaz Nasery, Artan Goda, Ervina Shirka, Rabie Benlabgaa, Salah Bouyoucef, Abdelkader Medjahedi, Qais Nailli, Mariela Agolti, Roberto Nicolas Aguero, Maria del Carmen Alak, Lucia Graciela Alberguina, Guillermo Arroñada, Andrea Astesiano, Alfredo Astesiano, Carolina Bas Norton, Pablo Benteo, Juan Blanco, Juan Manuel Bonelli, Jose Javier Bustos, Raul Cabrejas, Jorge Cachero, Roxana Campisi, Alejandro Canderoli, Silvia Carames, Patrícia Carrascosa, Ricardo Castro, Oscar Cendoya, Luciano Martin Cognigni, Carlos Collaud, Claudia Cortes, Javier Courtis, Daniel Cragnolino, Mariana Daicz, Alejandro De La Vega, Silvia Teresa De Maria, Horacio Del Riego, Fernando Dettori, Alejandro Deviggiano, Laura Dragonetti, Mario Embon, Ruben Emilio Enriquez, Jorge Ensinas, Fernando Faccio, Adolfo Facello, Diego Garofalo, Ricardo Geronazzo, Natalia Gonza, Lucas Gutierrez, Miguel Angel Guzzo, Victor Hasbani, Melina Huerin, Victor Jäger, Julio Manuel Lewkowicz, Maria Nieves A. López De Munaín, Jose Maria Lotti, Alejandra Marquez, Osvaldo Masoli, Osvaldo Horacio Masoli, Edgardo Mastrovito, Matias Mayoraz, Graciela Eva Melado, Anibal Mele, Maria Fernanda Merani, Alejandro Horacio Meretta, Susana Molteni, Marcos Montecinos, Eduardo Noguera, Carlos Novoa, Claudio Pereyra Sueldo, Sebastian Perez Ascani, Pablo Pollono, Maria Paula Pujol, Alejandro Radzinschi, Gustavo Raimondi, Marcela Redruello, Marina Rodríguez, Matías Rodríguez, Romina Lorena Romero, Arturo Romero Acuña, Federico Rovaletti, Lucas San Miguel, Lucrecia Solari, Bruno Strada, Sonia Traverso, Sonia Simona Traverzo, Maria del Huerto Velazquez Espeche, Juan Sebastian Weihmuller, Juan Wolcan, Susana Zeffiro, Mari Sakanyan, Scott Beuzeville, Raef Boktor, Patrick Butler, Jennifer Calcott, Loretta Carr, Virgil Chan, Charles Chao, Woon Chong, Mark Dobson, D'Arne Downie, Girish Dwivedi, Barry Elison, Jean Engela, Roslyn Francis, Anand Gaikwad, Ashok Gangasandra Basavaraj, Bruce Goodwin, Robert Greenough, Christian Hamilton-Craig, Victar Hsieh, Subodh Joshi, Karin Lederer, Kenneth Lee, Joseph Lee, John Magnussen, Nghi Mai, Gordon Mander, Fiona Murton, Dee Nandurkar, Johanne Neill, Edward O'Rourke, Patricia O'Sullivan, George Pandos, Kunthi Pathmaraj, Alexander Pitman, Rohan Poulter, Manuja Premaratne, David Prior, Lloyd Ridley, Natalie Rutherford, Hamid Salehi, Connor Saunders, Luke Scarlett, Sujith Seneviratne, Deepa Shetty, Ganesh Shrestha, Jonathan Shulman, Vijay Solanki, Tony Stanton, Murch Stuart, Michael Stubbs, Ian Swainson, Kim Taubman, Andrew Taylor, Paul Thomas, Steven Unger, Anthony Upton, Shankar Vamadevan, William Van Gaal, Johan Verjans, Demetrius Voutnis, Victor Wayne, Peter Wilson, David Wong, Kirby Wong, John Younger, Gudrun Feuchtner, Siroos Mirzaei, Konrad Weiss, Natallia Maroz-Vadalazhskaya, Olivier Gheysens, Filip Homans, Rodrigo Moreno-Reyes, Agnès Pasquet, Veronique Roelants, Caroline M. Van De Heyning, Raúl Araujo Ríos, Valentina Soldat-Stankovic, Sinisa Stankovic, Maria Helena Albernaz Siqueira, Augusto Almeida, Paulo Henrique Alves Togni, Jose Henrique Andrade, Luciana Andrade, Carlos Anselmi, Roberta Araújo, Guilherme Azevedo, Sabbrina Bezerra, Rodrigo Biancardi, Gabriel Blacher Grossman, Simone Brandão, Diego Bromfman Pianta, Lara Carreira, Bruno Castro, Tien Chang, Fernando Cunali, Jr., Roberto Cury, Roberto Dantas, Fernando de Amorim Fernandes, Andrea De Lorenzo, Robson De Macedo Filho, Fernanda Erthal, Fabio Fernandes, Juliano Fernandes, Thiago Ferreira De Souza, Wilson Furlan Alves, Bruno Ghini, Luiz Goncalves, Ilan Gottlieb, Marcelo Hadlich, Vinícius Kameoka, Ronaldo Lima, Adna Lima, Rafael Willain Lopes, Ricardo Machado e Silva, Tiago Magalhães, Fábio Martins Silva, Luiz Eduardo Mastrocola, Fábio Medeiros, José Claudio Meneghetti, Vania Naue, Danilo Naves, Roberto Nolasco, Cesar Nomura, Joao Bruno Oliveira, Eduardo Paixao, Filipe Penna De Carvalho, Ibraim Pinto, Priscila Possetti, Mayra Quinta, Rodrigo Rizzo Nogueira Ramos, Ricardo Rocha, Alfredo Rodrigues, Carlos Rodrigues, Leila Romantini, Adelina Sanches, Sara Santana, Leonardo Sara da Silva, Paulo Schvartzman, Cristina Sebastião Matushita, Tiago Senra, Afonso Shiozaki, Maria Eduarda Menezes de Siqueira, Cristiano Siqueira, Paola Smanio, Carlos Eduardo Soares, José Soares Junior, Marcio Sommer Bittencourt, Bernardo Spiro, Cláudio Tinoco Mesquita, Jorge Torreao, Rafael Torres, Marly Uellendahl, Guilherme Urpia Monte, Otávia Veríssimo, Estevan Vieira Cabeda, Felipe Villela Pedras, Roberto Waltrick, Marcello Zapparoli, Hamid Naseer, Marina Garcheva-Tsacheva, Irena Kostadinova, Youdaline Theng, Gad Abikhzer, Rene Barette, Benjamin Chow, Dominique Dabreo, Matthias Friedrich, Ria Garg, Mohammed Nassoh Hafez, Chris Johnson, Marla Kiess, Jonathon Leipsic, Eugene Leung, Robert Miller, Anastasia Oikonomou, Stephan Probst, Idan Roifman, Gary Small, Vikas Tandon, Adwait Trivedi, James White, Katherine Zukotynski, Jose Canessa, Gabriel Castro Muñoz, Carmen Concha, Pablo Hidalgo, Cesar Lovera, Teresa Massardo, Luis Salazar Vargas, Pedro Abad, Harold Arturo, Sandra Ayala, Luis Benitez, Alberto Cadena, Carlos Caicedo, Antonio Calderón Moncayo, Sharon Gomez, Claudia T. Gutierrez Villamil, Claudia Jaimes, Juan Londoño, Juan Luis Londoño Blair, Luz Pabon, Mauricio Pineda, Juan Carlos Rojas, Diego Ruiz, Manuel Valencia Escobar, Andres Vasquez, Damiana Vergel, Alejandro Zuluaga, Isabel Berrocal Gamboa, Gabriel Castro, Ulises González, Ana Baric, Tonci Batinic, Maja Franceschi, Maja Hrabak Paar, Mladen Jukic, Petar Medakovic, Viktor Persic, Marina Prpic, Ante Punda, Juan Felipe Batista, Juan Manuel Gómez Lauchy, Yamile Marcos Gutierrez, Rayner Menéndez, Amalia Peix, Luis Rochela, Christoforos Panagidis, Ioannis Petrou, Vaclav Engelmann, Milan Kaminek, Vladimír Kincl, Otto Lang, Milan Simanek, Jawdat Abdulla, Morten Bøttcher, Mette Christensen, Lars Christian Gormsen, Philip Hasbak, Søren Hess, Paw Holdgaard, Allan Johansen, Kasper Kyhl, Bjarne Linde Norgaard, Kristian Altern Øvrehus, Niels Peter Rønnow Sand, Rolf Steffensen, Anders Thomassen, Bo Zerahn, Alfredo Perez, Giovanni Alejandro Escorza Velez, Mayra Sanchez Velez, Islam Shawky Abdel Aziz, Mahasen Abougabal, Taghreed Ahmed, Adel Allam, Ahmed Asfour, Mona Hassan, Alia Hassan, Ahmed Ibrahim, Sameh Kaffas, Ahmed Kandeel, Mohamed Mandour Ali, Ahmad Mansy, Hany Maurice, Sherif Nabil, Mahmoud Shaaban, Ana Camila Flores, Anne Poksi, Juhani Knuuti, Velipekka Kokkonen, Martti Larikka, Valtteri Uusitalo, Matthieu Bailly, Samuel Burg, Jean-François Deux, Vincent Habouzit, Fabien Hyafil, Olivier Lairez, Franck Proffit, Hamza Regaieg, Laure Sarda-Mantel, Vania Tacher, Roman P. Schneider, Harold Ayetey, George Angelidis, Aikaterini Archontaki, Sofia Chatziioannou, Ioannis Datseris, Christina Fragkaki, Panagiotis Georgoulias, Sophia Koukouraki, Maria Koutelou, Eleni Kyrozi, Evangelos Repasos, Petros Stavrou, Pipitsa Valsamaki, Carla Gonzalez, Goleat Gutierrez, Alejandro Maldonado, Klara Buga, Ildiko Garai, Pál Maurovich-Horvat, Erzsébet Schmidt, Balint Szilveszter, Edit Várady, Nilesh Banthia, Jinendra Kumar Bhagat, Rishi Bhargava, Vivek Bhat, Mona Bhatia, Partha Choudhury, Vijay Sai Chowdekar, Aparna Irodi, Shashank Jain, Elizabeth Joseph, Sukriti Kumar, Prof Dr Girijanandan Mahapatra, Deepanjan Mitra, Bhagwant Rai Mittal, Ahmad Ozair, Chetan Patel, Tapan Patel, Ravi Patel, Shivani Patel, Sudhir Saxena, Shantanu Sengupta, Santosh Singh, Bhanupriya Singh, Ashwani Sood, Atul Verma, Erwin Affandi, Padma Savenadia Alam, Edison Edison, Gani Gunawan, Habusari Hapkido, Basuki Hidayat, Aulia Huda, Anggoro Praja Mukti, Djoko Prawiro, Erwin Affandi Soeriadi, Hilman Syawaluddin, Amjed Albadr, Majid Assadi, Farshad Emami, Golnaz Houshmand, Majid Maleki, Maryam Tajik Rostami, Seyed Rasoul Zakavi, Eed Abu Zaid, Svetlana Agranovich, Yoav Arnson, Rachel Bar-Shalom, Alex Frenkel, Galit Knafo, Rachel Lugassi, Israel Shlomo Maor Moalem, Maya Mor, Noam Muskal, Sara Ranser, Aryeh Shalev, Domenico Albano, Pierpaolo Alongi, Gaspare Arnone, Elisa Bagatin, Sergio Baldari, Matteo Bauckneht, Paolo Bertelli, Francesco Bianco, Rachele Bonfiglioli, Roberto Boni, Andrea Bruno, Isabella Bruno, Elena Busnardo, Elena Califaretti, Luca Camoni, Aldo Carnevale, Roberta Casoni, Armando Ugo Cavallo, Giorgio Cavenaghi, Franca Chierichetti, Marcello Chiocchi, Corrado Cittanti, Mauro Colletta, Umberto Conti, Alberto Cossu, Alberto Cuocolo, Marco Cuzzocrea, Maria Luisa De Rimini, Giuseppe De Vincentis, Eleonora Del Giudice, Alberico Del Torto, Veronica Della Tommasina, Rexhep Durmo, Paola Anna Erba, Laura Evangelista, Riccardo Faletti, Evelina Faragasso, Mohsen Farsad, Paola Ferro, Luigia Florimonte, Viviana Frantellizzi, Fabio Massimo Fringuelli, Marco Gatti, Angela Gaudiano, Alessia Gimelli, Raffaele Giubbini, Francesca Giuffrida, Salvatore Ialuna, Riccardo Laudicella, Lucia Leccisotti, Lucia Leva, Riccardo Liga, Carlo Liguori, Giampiero Longo, Margherita Maffione, Maria Elisabetta Mancini, Claudio Marcassa, Elisa Milan, Barbara Nardi, Sara Pacella, Giovanna Pepe, Gianluca Pontone, Sabina Pulizzi, Natale Quartuccio, Lucia Rampin, Fabrizio Ricci, Pierluigi Rossini, Giuseppe Rubini, Vincenzo Russo, Gian Mauro Sacchetti, Gianmario Sambuceti, Massimo Scarano, Roberto Sciagrà, Massimiliano Sperandio, Antonella Stefanelli, Guido Ventroni, Stefania Zoboli, Dainia Baugh, Duane Chambers, Ernest Madu, Felix Nunura, Hiroshi Asano, Chimura Misato Chimura, Shinichiro Fujimoto, Koichiro Fujisue, Tomohisa Fukunaga, Yoshimitsu Fukushima, Kae Fukuyama, Jun Hashimoto, Yasutaka Ichikawa, Nobuo Iguchi, Masamichi Imai, Anri Inaki, Hayato Ishimura, Satoshi Isobe, Toshiaki Kadokami, Takao Kato, Takashi Kudo, Shinichiro Kumita, Hirotaka Maruno, Hiroyuki Mataki, Masao Miyagawa, Ryota Morimoto, Masao Moroi, Shigeki Nagamachi, Kenichi Nakajima, Tomoaki Nakata, Ryo Nakazato, Mamoru Nanasato, Masanao Naya, Takashi Norikane, Yasutoshi Ohta, Satoshi Okayama, Atsutaka Okizaki, Yoichi Otomi, Hideki Otsuka, Masaki Saito, Sakata Yasushi Sakata, Masayoshi Sarai, Daisuke Sato, Shinya Shiraishi, Yoshinobu Suwa, Kentaro Takanami, Kazuya Takehana, Junichi Taki, Nagara Tamaki, Yasuyo Taniguchi, Hiroki Teragawa, Nobuo Tomizawa, Kenichi Tsujita, Kyoko Umeji, Yasushi Wakabayashi, Shinichiro Yamada, Shinya Yamazaki, Tatsuya Yoneyama, Mohammad Rawashdeh, Daultai Batyrkhanov, Tairkhan Dautov, Khalid Makhdomi, Kevin Ombati, Faridah Alkandari, Masoud Garashi, Tchoyoson Lim Coie, Sonexay Rajvong, Artem Kalinin, Marika Kalnina, Mohamad Haidar, Renata Komiagiene, Giedre Kviecinskiene, Mindaugas Mataciunas, Donatas Vajauskas, Christian Picard, Noor Khairiah A. Karim, Luise Reichmuth, Anthony Samuel, Mohammad Aaftaab Allarakha, Ambedhkar Shantaram Naojee, Erick Alexanderson-Rosas, Erika Barragan, Alejandro Becerril González-Montecinos, Manuel Cabada, Daniel Calderon Rodriguez, Isabel Carvajal-Juarez, Violeta Cortés, Filiberto Cortés, Erasmo De La Peña, Manlio Gama-Moreno, Luis González, Nelsy Gonzalez Ramírez, Moisés Jiménez-Santos, Luis Matos, Edgar Monroy, Martha Morelos, Mario Ornelas, Jose Alberto Ortga Ramirez, Andrés Preciado-Anaya, Óscar Ulises Preciado-Gutiérrez, Adriana Puente Barragan, Sandra Graciela Rosales Uvera, Sigelinda Sandoval, Miguel Santaularia Tomas, Lilia M. Sierra-Galan, Silvia Siu, Enrique Vallejo, Mario Valles, Marc Faraggi, Erdenechimeg Sereegotov, Srdja Ilic, Nozha Ben-Rais, Nadia Ismaili Alaoui, Sara Taleb, Khin Pa Pa Myo, Phyo Si Thu, Ram Kumar Ghimire, Bijoy Rajbanshi, Peter Barneveld, Andor Glaudemans, Jesse Habets, Klaas Pieter Koopmans, Jeroen Manders, Stefan Pool, Arthur Scholte, Asbjørn Scholtens, Riemer Slart, Paul Thimister, Erik-Jan Van Asperen, Niels Veltman, Derk Verschure, Nils Wagenaar, John Edmond, Chris Ellis, Kerryanne Johnson, Ross Keenan, Shaw Hua (Anthony) Kueh, Christopher Occleshaw, Alexander Sasse, Andrew To, Niels Van Pelt, Calum Young, Teresa Cuadra, Hector Bladimir Roque Vanegas, Idrissa Adamou Soli, Djibrillou Moussa Issoufou, Tolulope Ayodele, Chibuzo Madu, Yetunde Onimode, Elen Efros-Monsen, Signe Helene Forsdahl, Jenni-Mari Hildre Dimmen, Arve Jørgensen, Isabel Krohn, Pål Løvhaugen, Anders Tjellaug Bråten, Humoud Al Dhuhli, Faiza Al Kindi, Naeema Al-Bulushi, Zabah Jawa, Naima Tag, Muhammad Shehzad Afzal, Shazia Fatima, Muhammad Numair Younis, Musab Riaz, Mohammad Saadullah, Yariela Herrera, Dora Lenturut-Katal, Manuel Castillo Vázquez, José Ortellado, Afroza Akhter, Dianbo Cao, Stephen Cheung, Xu Dai, Lianggeng Gong, Dan Han, Yang Hou, Caiying Li, Tao Li, Dong Li, Sijin Li, Jinkang Liu, Hui Liu, Bin Lu, Ming Yen Ng, Kai Sun, Gongshun Tang, Jian Wang, Ximing Wang, Zhao-Qian Wang, Yining Wang, Yifan Wang, Jiang Wu, Zhifang Wu, Liming Xia, Jiangxi Xiao, Lei Xu, Youyou Yang, Wu Yin, Jianqun Yu, Li Yuan, Tong Zhang, Longjiang Zhang, Yong-Gao Zhang, Xiaoli Zhang, Li Zhu, Ana Alfaro, Paz Abrihan, Asela Barroso, Eric Cruz, Marie Rhiamar Gomez, Vincent Peter Magboo, John Michael Medina, Jerry Obaldo, Davidson Pastrana, Christian Michael Pawhay, Alvin Quinon, Jeanelle Margareth Tang, Bettina Tecson, Kristine Joy Uson, Mila Uy, Magdalena Kostkiewicz, Jolanta Kunikowska, Nuno Bettencourt, Guilhermina Cantinho, Antonio Ferreira, Ghulam Syed, Samer Arnous, Said Atyani, Angela Byrne, Tadhg Gleeson, David Kerins, Conor Meehan, David Murphy, Mark Murphy, John Murray, Julie O'Brien, Ji-In Bang, Henry Bom, Sang-Geon Cho, Chae Moon Hong, Su Jin Jang, Yong Hyu Jeong, Won Jun Kang, Ji-Young Kim, Jaetae Lee, Chang Kyeong Namgung, Young So, Kyoung Sook Won, Venjamin Majstorov, Marija Vavlukis, Barbara Gužic Salobir, Monika Štalc, Theodora Benedek, Imre Benedek, Raluca Mititelu, Claudiu Adrian Stan, Alexey Ansheles, Olga Dariy, Olga Drozdova, Nina Gagarina, Vsevolod Milyevich Gulyaev, Irina Itskovich, Anatoly Karalkin, Alexander Kokov, Ekaterina Migunova, Viktor Pospelov, Daria Ryzhkova, Guzaliya Saifullina, Svetlana Sazonova, Vladimir Sergienko, Irina Shurupova, Tatjana Trifonova, Wladimir Yurievich Ussov, Margarita Vakhromeeva, Nailya Valiullina, Konstantin Zavadovsky, Kirill Zhuravlev, Mirvat Alasnag, Subhani Okarvi, Dragana Sobic Saranovic, Felix Keng, Jia Hao Jason See, Ramkumar Sekar, Min Sen Yew, Andrej Vondrak, Shereen Bejai, George Bennie, Ria Bester, Gerrit Engelbrecht, Osayande Evbuomwan, Harlem Gongxeka, Magritha Jv Vuuren, Mitchell Kaplan, Purbhoo Khushica, Hoosen Lakhi, Lizette Louw, Nico Malan, Katarina Milos, Moshe Modiselle, Stuart More, Mathava Naidoo, Leonie Scholtz, Mboyo Vangu, Santiago Aguadé-Bruix, Isabel Blanco, Antonio Cabrera, Alicia Camarero, Irene Casáns-Tormo, Hug Cuellar-Calabria, Albert Flotats, Maria Eugenia Fuentes Cañamero, María Elia García, Amelia Jimenez-Heffernan, Rubén Leta, Javier Lopez Diaz, Luis Lumbreras, Juan Javier Marquez-Cabeza, Francisco Martin, Anxo Martinez de Alegria, Francisco Medina, Maria Pedrera Canal, Virginia Peiro, Virginia Pubul-Nuñez, Juan Ignacio Rayo Madrid, Cristina Rodríguez Rey, Ricardo Ruano Perez, Joaquín Ruiz, Gertrudis Sabatel Hernández, Ana Sevilla, Nahla Zeidán, Damayanthi Nanayakkara, Chandraguptha Udugama, Magnus Simonsson, Hatem Alkadhi, Ronny Ralf Buechel, Peter Burger, Luca Ceriani, Bart De Boeck, Christoph Gräni, Alix Juillet de Saint Lager Lucas, Christel H. Kamani, Nadine Kawel-Boehm, Robert Manka, John O. Prior, Axel Rominger, Jean-Paul Vallée, Benjapa Khiewvan, Teerapon Premprabha, Tanyaluck Thientunyakit, Ali Sellem, Kemal Metin Kir, Haluk Sayman, Mugisha Julius Sebikali, Zerida Muyinda, Yaroslav Kmetyuk, Pavlo Korol, Olena Mykhalchenko, Volodymyr Pliatsek, Maryna Satyr, Batool Albalooshi, Mohamed Ismail Ahmed Hassan, Jill Anderson, Punit Bedi, Thomas Biggans, Anda Bularga, Russell Bull, Rajesh Burgul, John-Paul Carpenter, Duncan Coles, David Cusack, Aparna Deshpande, John Dougan, Timothy Fairbairn, Alexia Farrugia, Deepa Gopalan, Alistair Gummow, Prasad Guntur Ramkumar, Mark Hamilton, Mark Harbinson, Thomas Hartley, Benjamin Hudson, Nikhil Joshi, Michael Kay, Andrew Kelion, Azhar Khokhar, Jamie Kitt, Ken Lee, Chen Low, Sze Mun Mak, Ntouskou Marousa, Jon Martin, Elisa Mcalindon, Leon Menezes, Gareth Morgan-Hughes, Alastair Moss, Anthony Murray, Edward Nicol, Dilip Patel, Charles Peebles, Francesca Pugliese, Jonathan Carl Luis Rodrigues, Christopher Rofe, Nikant Sabharwal, Rebecca Schofield, Thomas Semple, Naveen Sharma, Peter Strouhal, Deepak Subedi, William Topping, Katharine Tweed, Jonathan Weir-Mccall, Suhny Abbara, Taimur Abbasi, Brian Abbott, Shady Abohashem, Sandra Abramson, Tarek Al-Abboud, Mouaz Al-Mallah, Omar Almousalli, Karthikeyan Ananthasubramaniam, Mohan Ashok Kumar, Jeffrey Askew, Lea Attanasio, Mallory Balmer-Swain, Richard R. Bayer, Adam Bernheim, Sabha Bhatti, Erik Bieging, Ron Blankstein, Stephen Bloom, Sean Blue, David Bluemke, Andressa Borges, Kelley Branch, Paco Bravo, Jessica Brothers, Matthew Budoff, Renée Bullock-Palmer, Angela Burandt, Floyd W. Burke, Kelvin Bush, Candace Candela, Elizabeth Capasso, Joao Cavalcante, Donald Chang, Saurav Chatterjee, Yiannis Chatzizisis, Michael Cheezum, Tiffany Chen, Jennifer Chen, Marcus Chen, James Clarcq, Ayreen Cordero, Matthew Crim, Sorin Danciu, Bruce Decter, Nimish Dhruva, Neil Doherty, Rami Doukky, Anjori Dunbar, William Duvall, Rachael Edwards, Kerry Esquitin, Husam Farah, Emilio Fentanes, Maros Ferencik, Daniel Fisher, Daniel Fitzpatrick, Cameron Foster, Tony Fuisz, Michael Gannon, Lori Gastner, Myron Gerson, Brian Ghoshhajra, Alan Goldberg, Brian Goldner, Jorge Gonzalez, Rosco Gore, Sandra Gracia-López, Fadi Hage, Agha Haider, Sofia Haider, Yasmin Hamirani, Karen Hassen, Mallory Hatfield, Carolyn Hawkins, Katie Hawthorne, Nicholas Heath, Robert Hendel, Phillip Hernandez, Gregory Hill, Stephen Horgan, Jeff Huffman, Lynne Hurwitz, Ami Iskandrian, Rajesh Janardhanan, Christine Jellis, Scott Jerome, Dinesh Kalra, Summanther Kaviratne, Fernando Kay, Faith Kelly, Omar Khalique, Mona Kinkhabwala, George Kinzfogl Iii, Jacqueline Kircher, Rachael Kirkbride, Michael Kontos, Anupama Kottam, Joseph Krepp, Jay Layer, Steven H. Lee, Jeffrey Leppo, John Lesser, Steve Leung, Howard Lewin, Diana Litmanovich, Yiyan Liu, Kathleen Magurany, Jeremy Markowitz, Amanda Marn, Stephen E. Matis, Michael Mckenna, Tony Mcrae, Fernando Mendoza, Michael Merhige, David Min, Chanan Moffitt, Karen Moncher, Warren Moore, Shamil Morayati, Michael Morris, Mahmud Mossa-Basha, Zorana Mrsic, Venkatesh Murthy, Prashant Nagpal, Kyle Napier, Katarina Nelson, Prabhjot Nijjar, Medhat Osman, Edward Passen, Amit Patel, Pravin Patil, Ryan Paul, Lawrence Phillips, Venkateshwar Polsani, Rajaram Poludasu, Brian Pomerantz, Thomas Porter, Ryan Prentice, Amit Pursnani, Mark Rabbat, Suresh Ramamurti, Florence Rich, Hiram Rivera Luna, Austin Robinson, Kim Robles, Cesar Rodríguez, Mark Rorie, John Rumberger, Raymond Russell, Philip Sabra, Diego Sadler, Mary Schemmer, U. Joseph Schoepf, Samir Shah, Nishant Shah, Sujata Shanbhag, Gaurav Sharma, Steven Shayani, Jamshid Shirani, Pushpa Shivaram, Steven Sigman, Mitch Simon, Ahmad Slim, David Smith, Alexandra Smith, Prem Soman, Aditya Sood, Monvadi Barbara Srichai-Parsia, James Streeter, Albert T, Ahmed Tawakol, Dustin Thomas, Randall Thompson, Tara Torbet, Desiree Trinidad, Shawn Ullery, Samuel Unzek, Seth Uretsky, Srikanth Vallurupalli, Vikas Verma, Alfonso Waller, Ellen Wang, Parker Ward, Gaby Weissman, George Wesbey, Kelly White, David Winchester, David Wolinsky, Sandra Yost, Michael Zgaljardic, Omar Alonso, Mario Beretta, Rodolfo Ferrando, Miguel Kapitan, Fernando Mut, Omoa Djuraev, Gulnora Rozikhodjaeva, Ha Le Ngoc, Son Hong Mai, and Xuan Canh Nguyen

Subjects
cardiac testing, cardiovascular disease, coronavirus, COVID-19, global health, Diseases of the circulatory (Cardiovascular) system, RC666-701
Abstract

Background: The coronavirus disease-2019 (COVID-19) pandemic significantly affected management of cardiovascular disease around the world. The effect of the pandemic on volume of cardiovascular diagnostic procedures is not known. Objectives: This study sought to evaluate the effects of the early phase of the COVID-19 pandemic on cardiovascular diagnostic procedures and safety practices in Asia. Methods: The International Atomic Energy Agency conducted a worldwide survey to assess changes in cardiovascular procedure volume and safety practices caused by COVID-19. Testing volumes were reported for March 2020 and April 2020 and were compared to those from March 2019. Data from 180 centers across 33 Asian countries were grouped into 4 subregions for comparison. Results: Procedure volumes decreased by 47% from March 2019 to March 2020, showing recovery from March 2020 to April 2020 in Eastern Asia, particularly in China. The majority of centers cancelled outpatient activities and increased time per study. Practice changes included implementing physical distancing and restricting visitors. Although COVID testing was not commonly performed, it was conducted in one-third of facilities in Eastern Asia. The most severe reductions in procedure volumes were observed in lower-income countries, where volumes decreased 81% from March 2019 to April 2020. Conclusions: The COVID-19 pandemic in Asia caused significant reductions in cardiovascular diagnostic procedures, particularly in low-income countries. Further studies on effects of COVID-19 on cardiovascular outcomes and changes in care delivery are warranted.

Published
2021
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3. Insights to correlations and discrepancies between impaired lung function and heart failure in Eisenmenger patients

Author

Lina Gumbiene, Lina Kapleriene, Dovile Jancauskaite, Monika Laukyte-Sleniene, Elena Jureviciene, Virginija Rudiene, Egle Paleviciute, Mindaugas Mataciunas, and Virginija Sileikiene

Subjects
Diseases of the circulatory (Cardiovascular) system, RC666-701, Diseases of the respiratory system, RC705-779
Abstract

Impaired lung function and spirometric signs of airway obstruction without common risk factors for chronic obstructive pulmonary disease could be found in patients with Eisenmenger syndrome. This study aimed to analyse the association between lung function parameters and disease severity (including heart failure markers, associated congenital heart defect) as well as the possible reasons for airflow obstruction in Eisenmenger syndrome. The data of 25 patients with Eisenmenger syndrome were retrospectively evaluated. The patients were divided into groups according to airflow obstruction and a type of congenital heart defect. Airflow obstruction was found in nearly third (32%) of our cases and was associated with older age and worse survival. No relation was found between airway obstruction, B-type natriuretic peptide level, complexity of congenital heart defect and bronchial compression. Most of the patients (88%) had gas diffusion abnormalities. A weak negative correlation was noticed between gas diffusion (diffusing capacity of the lung for carbon monoxide) and B-type natriuretic peptide level (r = −0.437, p = 0.033). Increased residual volume was associated with higher mortality (p = 0.047 and p = 0.021, respectively). A link between B-type natriuretic peptide and lung diffusion, but not airway obstruction, was found. Further research and larger multicentre studies are needed to evaluate the importance of pulmonary function parameters and mechanisms of airflow obstruction in Eisenmenger syndrome.

Published
2020
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5. Reduction of cardiac imaging tests during the COVID-19 pandemic: The case of Italy. Findings from the IAEA Non-invasive Cardiology Protocol Survey on COVID-19 (INCAPS COVID)

Author

Dondi, M., Milan, E., Pontone, G., Hirschfeld, C. B., Williams, M., Shaw, L. J., Pynda, Y., Raggi, P., Cerci, R., Vitola, J., Better, N., Villines, T. C., Dorbala, S., Pascual, T. N. B., Giubbini, R., Einstein, A. J., Paez, D., Italy: Domenico Albano, Pierpaolo, Alongi, Gaspare, Arnone, Elisa, Bagatin, Sergio, Baldari, Matteo, Bauckneht, Paolo, Bertelli, Francesco, Bianco, Rachele, Bonfiglioli, Roberto, Boni, Andrea, Bruno, Isabella, Bruno, Elena, Busnardo, Elena, Califaretti, Luca, Camoni, Aldo, Carnevale, Roberta, Casoni, Armando Ugo Cavallo, Giorgio, Cavenaghi, Franca, Chierichetti, Marcello, Chiocchi, Corrado, Cittanti, Mauro, Colletta, Umberto, Conti, Alberto, Cossu, Alberto, Cuocolo, Marco, Cuzzocrea, Maria Luisa De Rimini, Giuseppe De Vincentis, Eleonora Del Giudice, Alberico Del Torto, Veronica Della Tommasina, Rexhep, Durmo, Paola Anna Erba, Laura, Evangelista, Riccardo, Faletti, Evelina, Faragasso, Mohsen, Farsad, Paola, Ferro, Luigia, Florimonte, Viviana, Frantellizzi, Fabio Massimo Fringuelli, Marco, Gatti, Angela, Gaudiano, Alessia, Gimelli, Raffaele, Giubbini, Francesca, Giuffrida, Salvatore, Ialuna, Riccardo, Laudicella, Lucia, Leccisotti, Lucia, Leva, Liga, Riccardo, Carlo, 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Cordero, Matthew, Crim, Sorin, Danciu, Bruce, Decter, Nimish, Dhruva, Neil, Doherty, Rami, Doukky, Anjori, Dunbar, William, Duvall, Rachael, Edwards, Kerry, Esquitin, Husam, Farah, Emilio, Fentanes, Maros, Ferencik, Daniel, Fisher, Daniel, Fitzpatrick, Cameron, Foster, Tony, Fuisz, Michael, Gannon, Lori, Gastner, Myron, Gerson, Brian, Ghoshhajra, Alan, Goldberg, Brian, Goldner, Jorge, Gonzalez, Rosco, Gore, Sandra, Gracia-López, Fadi, Hage, Agha, Haider, Sofia, Haider, Yasmin, Hamirani, Karen, Hassen, Mallory, Hatfield, Carolyn, Hawkins, Katie, Hawthorne, Nicholas, Heath, Robert, Hendel, Phillip, Hernandez, Gregory, Hill, Stephen, Horgan, Jeff, Huffman, Lynne, Hurwitz, Ami, Iskandrian, Rajesh, Janardhanan, Christine, Jellis, Scott, Jerome, Dinesh, Kalra, Summanther, Kaviratne, Fernando, Kay, Faith, Kelly, Omar, Khalique, Mona, Kinkhabwala, George Kinzfogl Iii, Jacqueline, Kircher, Rachael, Kirkbride, Michael, Kontos, Anupama, Kottam, Joseph, Krepp, Jay, Layer, Steven, H Lee, Jeffrey, Leppo, John, Lesser, Steve, Leung, Howard, Lewin, Diana, Litmanovich, Yiyan, Liu, Juan, Lopez-Mattei, Kathleen, Magurany, Jeremy, Markowitz, Amanda, Marn, Stephen, E Matis, Michael, Mckenna, Tony, Mcrae, Fernando, Mendoza, Michael, Merhige, David, Min, Chanan, Moffitt, Karen, Moncher, Warren, Moore, Shamil, Morayati, Michael, Morris, Mahmud, Mossa-Basha, Zorana, Mrsic, Venkatesh, Murthy, Prashant, Nagpal, Kyle, Napier, Jagat, Narula, Katarina, Nelson, Prabhjot, Nijjar, Medhat, Osman, Purvi, Parwani, Edward, Passen, Amit, Patel, Pravin, Patil, Ryan, Paul, Lawrence, Phillips, Venkateshwar, Polsani, Rajaram, Poludasu, Brian, Pomerantz, Thomas, Porter, Ryan, Prentice, Amit, Pursnani, Mark, Rabbat, Suresh, Ramamurti, Florence, Rich, Hiram Rivera Luna, Austin, Robinson, Kim, Robles, Cesar, Rodríguez, Mark, Rorie, John, Rumberger, Raymond, Russell, Philip, Sabra, Diego, Sadler, Mary, Schemmer, Joseph Schoepf, U., Samir, Shah, Nishant, Shah, Sujata, Shanbhag, Gaurav, Sharma, Steven, Shayani, Jamshid, Shirani, Pushpa, Shivaram, Steven, Sigman, Mitch, Simon, Ahmad, Slim, David, Smith, Alexandra, Smith, Prem, Soman, Aditya, Sood, Monvadi Barbara Srichai-Parsia, James, Streeter, Albert, T, Ahmed, Tawakol, Dustin, Thomas, Randall, Thompson, Tara, Torbet, Desiree, Trinidad, Shawn, Ullery, Samuel, Unzek, Seth, Uretsky, Srikanth, Vallurupalli, Vikas, Verma, Alfonso, Waller, Ellen, Wang, Parker, Ward, Gaby, Weissman, George, Wesbey, Kelly, White, David, Winchester, David, Wolinsky, Sandra, Yost, Michael Zgaljardic Uruguay: Omar Alonso, Mario, Beretta, Rodolfo, Ferrando, Miguel, Kapitan, Fernando Mut Uzbekistan: Omoa Djuraev, Gulnora Rozikhodjaeva Vietnam: Ha Le Ngoc, Son Hong Mai, and Xuan Canh Nguyen

Subjects
medicine.medical_specialty, Coronavirus disease 2019 (COVID-19), Cardiology, Settore MED/11 - Malattie dell'Apparato Cardiovascolare, COVID-19, Cardiac imaging, Cardiovascular disease, Article, cardiac imaging, Healthcare delivery, cardiovascular disease, Intensive care, Surveys and Questionnaires, Health care, Pandemic, medicine, Humans, Pandemics, Protocol (science), business.industry, SARS-CoV-2, Non invasive, Italy, humans, pandemics, surveys and questionnaires, cardiology, Emergency medicine, Cardiology and Cardiovascular Medicine, business
Abstract

Background: In early 2020, COVID-19 massively hit Italy, earlier and harder than any other European country. This caused a series of strict containment measures, aimed at blocking the spread of the pandemic. Healthcare delivery was also affected when resources were diverted towards care of COVID-19 patients, including intensive care wards. Aim of the study: The aim is assessing the impact of COVID-19 on cardiac imaging in Italy, compare to the Rest of Europe (RoE) and the World (RoW). Methods: A global survey was conducted in May–June 2020 worldwide, through a questionnaire distributed online. The survey covered three periods: March and April 2020, and March 2019. Data from 52 Italian centres, a subset of the 909 participating centres from 108 countries, were analyzed. Results: In Italy, volumes decreased by 67% in March 2020, compared to March 2019, as opposed to a significantly lower decrease (p < 0.001) in RoE and RoW (41% and 40%, respectively). A further decrease from March 2020 to April 2020 summed up to 76% for the North, 77% for the Centre and 86% for the South. When compared to the RoE and RoW, this further decrease from March 2020 to April 2020 in Italy was significantly less (p = 0.005), most likely reflecting the earlier effects of the containment measures in Italy, taken earlier than anywhere else in the West. Conclusions: The COVID-19 pandemic massively hit Italy and caused a disruption of healthcare services, including cardiac imaging studies. This raises concern about the medium- and long-term consequences for the high number of patients who were denied timely diagnoses and the subsequent lifesaving therapies and procedures.

Published
2021
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6. Classic Dissection of Thoracic Aorta Complicated by Ascending Aortic Intramural Hematoma: Promt Diagnosis and Successful Endovascular Repair

Author

Gediminas Rackauskas, Mindaugas Mataciunas, Nerijus Misonis, Diana Zakarkaite, Marijus Gutauskas, Valdas Bilkis, Algirdas Edvardas Tamosiunas, Pranas Serpytis, and Aleksandras Laucevicius

Subjects
Medicine
Abstract

We reported a case of 68-year-old man, with a previous history of hypertension. Patient was admitted to our institution for evaluation of a severe, constant, tearing anterior chest pain radiated to the neck with suspicion of acute aortic dissection. A multidetector computed tomography scan of thorax and abdomen demonstrated a dissection starting from the middle part of aortic arch and extending downward to the descending aorta till the middle part of the thoracic aorta. The dissection was classified as Stanford A, De Bakey I. Surgical treatment of patient was started with bypass graft from the right common carotid artery to the left common carotid with subsequent revascularization of left subclavian artery. Lower parts of above-mentioned arteries were ligated. At the second stage an emergent prosthetic stent-graft was placed distally from the truncus brachiocephalicus up to the proximal part of the descending aorta. We reported a case report to present diagnostic and possible interventional treatment for patient with acute aortic type A dissection.

Published
2012
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7. Cardiac imaging in a patient with differential clubbing

Author

Virginija Rudiene, Mindaugas Mataciunas, Diana Zakarkaite, Zaneta Petrulioniene, Lina Gumbiene, and Dovile Jancauskaite

Subjects
Diagnostic Imaging, medicine.medical_specialty, business.industry, Osteoarthropathy, Secondary Hypertrophic, Humans, Medicine, Radiology, Cardiology and Cardiovascular Medicine, business, Differential (mathematics), Cardiac imaging
Published
2020
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8. Meandering pulmonary veins mimicking arteriovenous malformation

Author

Mindaugas Mataciunas, Lina Gumbiene, Algirdas Tamosiunas, and Aleksandras Laucevičius

Subjects
Adult, Male, medicine.medical_specialty, Aortic Valve Insufficiency, Chest ct, Right superior pulmonary vein, Arteriovenous Malformations, Diagnosis, Differential, Preoperative Care, Left superior pulmonary vein, medicine, Humans, Radiology, Nuclear Medicine and imaging, Incidental Findings, Lung, medicine.diagnostic_test, business.industry, Angiography, Mediastinum, Arteriovenous malformation, medicine.disease, Right inferior pulmonary vein, medicine.anatomical_structure, Pulmonary Veins, cardiovascular system, Radiography, Thoracic, Radiology, Tomography, X-Ray Computed, Cardiology and Cardiovascular Medicine, business
Abstract

We report a case of preoperative incidental finding in a 34-year-old man with a significant aortic insufficiency. Preoperative chest x-ray was suspicious for arteriovenous malformation in the right lung. Chest CT angiography discovered an anomalous course of the left superior pulmonary vein crossing the mediastinum to the contralateral hemithorax, joining the right superior pulmonary vein before entering the right inferior pulmonary vein and forming a common trunk of right inferior pulmonary vein.

Published
2015
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