ICD outcome in pediatric arrhythmogenic cardiomyopathy

Authors: Cicenia, Marianna, Silvetti, Massimo Stefano, Cantarutti, Nicoletta, Battipaglia, Irma, Adorisio, Rachele, Saputo, Fabio Anselmo, Tamburri, Ilaria, Campisi, Marta, Baban, Anwar, Drago, Fabrizio

Source: In International Journal of Cardiology 1 January 2024 394

8p23.1 deletion: Look out for left ventricular hypertrabeculation and not only congenital heart diseases. Single‐center experience and literature revision

Authors: Cicenia, Marianna, Alesi, Viola, Orlando, Valeria, Magliozzi, Monia, Di Tommaso, Silvia, Iodice, Francesca G., Pompei, Emanuela, Toscano, Alessandra, Digilio, Maria C., Drago, Fabrizio, Novelli, Antonio, Baban, Anwar

Source: American journal of medical genetics.Part A. 188(3):883-895

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100140903445.0x000001&indx=1&recIds=ETOCvdc_100140903445.0x000001

Clinical Features and Natural History of Preadolescent Nonsyndromic Hypertrophic Cardiomyopathy

Authors: Norrish, Gabrielle, Cleary, Aoife, Field, Ella, Cervi, Elena, Boleti, Olga, Ziółkowska, Lidia, Olivotto, Iacopo, Khraiche, Diala, Limongelli, Giuseppe, Anastasakis, Aris, Weintraub, Robert, Biagini, Elena, Ragni, Luca, Prendiville, Terence, Duignan, Sophie, McLeod, Karen, Ilina, Maria, Fernandez, Adrian, Marrone, Chiara, Bökenkamp, Regina, Baban, Anwar, Kubus, Peter, Daubeney, Piers E.F., Sarquella-Brugada, Georgia, Cesar, Sergi, Klaassen, Sabine, Ojala, Tiina H., Bhole, Vinay, Medrano, Constancio, Uzun, Orhan, Brown, Elspeth, Gran, Ferran, Sinagra, Gianfranco, Castro, Francisco J., Stuart, Graham, Yamazawa, Hirokuni, Barriales-Villa, Roberto, Garcia-Guereta, Luis, Adwani, Satish, Linter, Katie, Bharucha, Tara, Gonzales-Lopez, Esther, Siles, Ana, Rasmussen, Torsten B., Calcagnino, Margherita, Jones, Caroline B., De Wilde, Hans, Kubo, Toru, Felice, Tiziana, Popoiu, Anca, Mogensen, Jens, Mathur, Sujeev, Centeno, Fernando, Reinhardt, Zdenka, Schouvey, Sylvie, Elliott, Perry M., Kaski, Juan Pablo

Source: Journal of the American College of Cardiology. 79(20):1986-1997

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100165293712.0x000001&indx=1&recIds=ETOCvdc_100165293712.0x000001

Arrhythmogenic cardiomyopathy in children according to 'Padua criteria': Single pediatric center experience

Authors: Cicenia, Marianna, Cantarutti, Nicoletta, Adorisio, Rachele, Silvetti, Massimo Stefano, Secinaro, Aurelio, Ciancarella, Paolo, Di Mambro, Corrado, Magliozzi, Monia, Novelli, Antonio, Amodeo, Antonio, Baban, Anwar, Drago, Fabrizio

Source: International journal of cardiology. 350:83-89

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100154670158.0x000001&indx=1&recIds=ETOCvdc_100154670158.0x000001

The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations

Authors: Woerden, Geeske M., Senden, Richelle, Konink, Charlotte, Trezza, Rossella A., Baban, Anwar, Bassetti, Jennifer A., Bever, Yolande, Bird, Lynne M., Bon, Bregje W., Brooks, Alice S., Guan, Qiaoning, Klee, Eric W., Marcelis, Carlo, Rosado, Joel M., Schimmenti, Lisa A., Shikany, Amy R., Terhal, Paulien A., Nicole Weaver, Kathryn, Wessels, Marja W., Wieringen, Hester, Hurst, Anna C., Gooch, Catherine F., Steindl, Katharina, Joset, Pascal, Rauch, Anita, Tartaglia, Marco, Niceta, Marcello, Elgersma, Ype, Demirdas, Serwet

Source: Human mutation. 43(10):1377-1395

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100159566488.0x000001&indx=1&recIds=ETOCvdc_100159566488.0x000001

Congenital heart defects in molecularly confirmed KBG syndrome patients

Authors: Digilio, Maria Cristina, Calcagni, Giulio, Gnazzo, Maria, Versacci, Paolo, Dentici, Maria Lisa, Capolino, Rossella, Sinibaldi, Lorenzo, Baban, Anwar, Putotto, Carolina, Alfieri, Paolo, Unolt, Marta, Lepri, Francesca R., Alesi, Viola, Genovese, Silvia, Novelli, Antonio, Marino, Bruno, Dallapiccola, Bruno

Source: American journal of medical genetics.Part A. 188(4):1149-1159

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100144180256.0x000001&indx=1&recIds=ETOCvdc_100144180256.0x000001

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

Authors: van der Sluijs, Pleuntje J., Joosten, Marieke, Alby, Caroline, Attié-Bitach, Tania, Gilmore, Kelly, Dubourg, Christele, Fradin, Mélanie, Wang, Tianyun, Kurtz-Nelson, Evangeline C., Ahlers, Kaitlyn P., Arts, Peer, Barnett, Christopher P., Ashfaq, Myla, Baban, Anwar, van den Born, Myrthe, Borrie, Sarah, Busa, Tiffany, Byrne, Alicia, Carriero, Miriam, Cesario, Claudia, Chong, Karen, Cueto-González, Anna Maria, Dempsey, Jennifer C., Diderich, Karin E.M., Doherty, Dan, Farholt, Stense, Gerkes, Erica H., Gorokhova, Svetlana, Govaerts, Lutgarde C.P., Gregersen, Pernille A., Hickey, Scott E., Lefebvre, Mathilde, Mari, Francesca, Martinovic, Jelena, Northrup, Hope, O’Leary, Melanie, Parbhoo, Kareesma, Patrier, Sophie, Popp, Bernt, Santos-Simarro, Fernando, Stoltenburg, Corinna, Thauvin-Robinet, Christel, Thompson, Elisabeth, Vulto-van Silfhout, Anneke T., Zahir, Farah R., Scott, Hamish S., Earl, Rachel K., Eichler, Evan E., Vora, Neeta L., Wilnai, Yael, Giordano, Jessica L., Wapner, Ronald J., Rosenfeld, Jill A., Haak, Monique C., Santen, Gijs W.E.

Source: In Genetics in Medicine August 2022 24(8):1753-1760

Clinical characteristics and risk of arrhythmic events in patients younger than 12 years diagnosed with Brugada syndrome

Authors: Righi, Daniela, Porco, Luigina, Calvieri, Camilla, Tamborrino, Pietro Paolo, Di Mambro, Corrado, Paglia, Simone, Baban, Anwar, Silvetti, Massimo Stefano, Gnazzo, Maria, Novelli, Antonio, Tozzi, Alberto Eugenio, Drago, Fabrizio

Source: In Heart Rhythm October 2021 18(10):1691-1697

Clinical presentation and long‐term outcomes of infantile hypertrophic cardiomyopathy: a European multicentre study

Authors: Norrish, Gabrielle, Kolt, Gali, Cervi, Elena, Field, Ella, Dady, Kathleen, Ziółkowska, Lidia, Olivotto, Iacopo, Favilli, Silvia, Passantino, Silvia, Limongelli, Giuseppe, Caiazza, Martina, Rubino, Marta, Baban, Anwar, Drago, Fabrizio, Mcleod, Karen, Ilina, Maria, McGowan, Ruth, Stuart, Graham, Bhole, Vinay, Uzun, Orhan, Wong, Amos, Lazarou, Laz, Brown, Elspeth, Daubeney, Piers E.F., Lota, Amrit, Delle Donne, Grazia, Linter, Katie, Mathur, Sujeev, Bharucha, Tara, Adwani, Satish, Searle, Jon, Popoiu, Anca, Jones, Caroline B., Reinhardt, Zdenka, Kaski, Juan Pablo

Source: ESC heart failure. 8(6):5057-5067

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100140041023.0x000001&indx=1&recIds=ETOCvdc_100140041023.0x000001

Copy Number Variants in Cardiac Channelopathies: Still a Missed Part in Routine Arrhythmic Diagnostics.

Authors: Gnazzo, Maria, Parlapiano, Giovanni, Di Lorenzo, Francesca, Perrino, Daniele, Genovese, Silvia, Lanari, Valentina, Righi, Daniela, Calì, Federica, Silvetti, Massimo Stefano, Falcone, Elena, Bauleo, Alessia, Drago, Fabrizio, Novelli, Antonio, Baban, Anwar

Source: Biomolecules (2218-273X); Nov2024, Vol. 14 Issue 11, p1450, 16p

Subject Terms: DNA copy number variations, ATRIAL arrhythmias, YOUNG adults, VENTRICULAR tachycardia, CARDIAC arrest, ARRHYTHMIA

Arrhythmias May Hide a Genetic Cardiomyopathy in Left Ventricular Hypertrabeculation in Children: A Single-Center Experience.

Authors: Battipaglia, Irma, Cantarutti, Nicoletta, Cicenia, Marianna, Adorisio, Rachele, Battista, Virginia, Baban, Anwar, Silvetti, Massimo Stefano, Drago, Fabrizio

Source: Children; Oct2024, Vol. 11 Issue 10, p1233, 10p

Subject Terms: ARRHYTHMIA diagnosis, RESEARCH funding, FISHER exact test, CARDIAC hypertrophy, RETROSPECTIVE studies, DESCRIPTIVE statistics, CHI-squared test, SUPRAVENTRICULAR tachycardia, VENTRICULAR fibrillation, ARRHYTHMIA, LEFT ventricular hypertrophy, VENTRICULAR tachycardia, ELECTROCARDIOGRAPHY, MEDICAL records, ACQUISITION of data, VENTRICULAR arrhythmia, IMPLANTABLE cardioverter-defibrillators, DATA analysis software, HEART block, BIOMARKERS, PATIENT aftercare, PHENOTYPES, DISEASE complications, CHILDREN

The role of Italian pre-participation screening in early detection of cardiomyopathies: what is the meaning of T wave inversion in young athletes?

Authors: Tranchita, Eliana, Cafiero, Giulia, Giordano, Ugo, Gentili, Federica, Turchetta, Attilio, Cantarutti, Nicoletta, Cicenia, Marianna, Battipaglia, Irma, Di Mambro, Corrado, Baban, Anwar, Secinaro, Aurelio, Drago, Fabrizio

Source: Cardiology in the Young; Oct2024, Vol. 34 Issue 10, p2094-2099, 6p

Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants

Authors: Kortüm, Fanny, Niceta, Marcello, Magliozzi, Monia, Dumic Kubat, Katja, Robertson, Stephen P., Moresco, Angelica, Dentici, Maria Lisa, Baban, Anwar, Leoni, Chiara, Onesimo, Roberta, Obregon, Maria Gabriela, Digilio, Maria Cristina, Zampino, Giuseppe, Novelli, Antonio, Tartaglia, Marco, Kutsche, Kerstin

Source: In European Journal of Medical Genetics September 2020 63(9)

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Authors: van der Sluijs, Pleuntje J., Jansen, Sandra, Vergano, Samantha A., Adachi-Fukuda, Miho, Alanay, Yasemin, AlKindy, Adila, Baban, Anwar, Bayat, Allan, Beck-Wödl, Stefanie, Berry, Katherine, Bijlsma, Emilia K., Bok, Levinus A., Brouwer, Alwin F.J., van der Burgt, Ineke, Campeau, Philippe M., Canham, Natalie, Chrzanowska, Krystyna, Chu, Yoyo W.Y., Chung, Brain H.Y., Dahan, Karin, De Rademaeker, Marjan, Destree, Anne, Dudding-Byth, Tracy, Earl, Rachel, Elcioglu, Nursel, Elias, Ellen R., Fagerberg, Christina, Gardham, Alice, Gener, Blanca, Gerkes, Erica H., Grasshoff, Ute, van Haeringen, Arie, Heitink, Karin R., Herkert, Johanna C., den Hollander, Nicolette S., Horn, Denise, Hunt, David, Kant, Sarina G., Kato, Mitsuhiro, Kayserili, Hülya, Kersseboom, Rogier, Kilic, Esra, Krajewska-Walasek, Malgorzata, Lammers, Kylin, Laulund, Lone W., Lederer, Damien, Lees, Melissa, López-González, Vanesa, Maas, Saskia, Mancini, Grazia M.S., Marcelis, Carlo, Martinez, Francisco, Maystadt, Isabelle, McGuire, Marianne, McKee, Shane, Mehta, Sarju, Metcalfe, Kay, Milunsky, Jeff, Mizuno, Seiji, Moeschler, John B., Netzer, Christian, Ockeloen, Charlotte W., Oehl-Jaschkowitz, Barbara, Okamoto, Nobuhiko, Olminkhof, Sharon N.M., Orellana, Carmen, Pasquier, Laurent, Pottinger, Caroline, Riehmer, Vera, Robertson, Stephen P., Roifman, Maian, Rooryck, Caroline, Ropers, Fabienne G., Rosello, Monica, Ruivenkamp, Claudia A.L., Sagiroglu, Mahmut S., Sallevelt, Suzanne C.E.H., Sanchis Calvo, Amparo, Simsek-Kiper, Pelin O., Soares, Gabriela, Solaeche, Lucia, Sonmez, Fatma Mujgan, Splitt, Miranda, Steenbeek, Duco, Stegmann, Alexander P.A., Stumpel, Constance T.R.M., Tanabe, Saori, Uctepe, Eyyup, Utine, G. Eda, Veenstra-Knol, Hermine E., Venkateswaran, Sunita, Vilain, Catheline, Vincent-Delorme, Catherine, Vulto-van Silfhout, Anneke T., Wheeler, Patricia, Wilson, Golder N., Wilson, Louise C., Wollnik, Bernd, Kosho, Tomoki, Wieczorek, Dagmar, Eichler, Evan, Pfundt, Rolph, de Vries, Bert B.A., Clayton-Smith, Jill, Santen, Gijs W.E.

Source: In Genetics in Medicine June 2019 21(6):1295-1307

Hidden Complexity in Routine Adult and Pediatric Arrhythmias Interpretation: The Future of Precision Electrocardiology

Authors: Leonelli, Fabio M., De Ponti, Roberto, Drago, Fabrizio, Baban, Anwar, Cortez, Daniel, Griselli, Massimo, Bagliani, Giuseppe

Source: In Cardiac Electrophysiology Clinics June 2019 11(2):391-404

Heart rate reduction strategy using ivabradine in end-stage Duchenne cardiomyopathy

Authors: Adorisio, Rachele, Calvieri, Camilla, Cantarutti, Nicoletta, D'Amico, Adele, Catteruccia, Michela, Bertini, Enrico, Baban, Anwar, Filippelli, Sergio, Perri, Gianluigi, Amodeo, Antonio, Drago, Fabrizio

Source: In International Journal of Cardiology 1 April 2019 280:99-103

Atypical cardiac defects in patients with RASopathies: Updated data on CARNET study

Authors: Calcagni, Giulio, Gagliostro, Giulia, Limongelli, Giuseppe, Unolt, Marta, De Luca, Enrica, Digilio, Maria C., Baban, Anwar, Albanese, Sonia B., Ferrero, Giovanni B., Baldassarre, Giuseppina, Agnoletti, Gabriella, Banaudi, Elena, Marek, Jan, Kaski, Juan P., Tuo, Giulia, Marasini, Maurizio, Cairello, Francesca, Madrigali, Andrea, Pacileo, Giuseppe, Russo, Maria G., Milanesi, Ornella, Formigari, Roberto, Brighenti, Maurizio, Ragni, Luca, Donti, Andrea, Drago, Fabrizio, Dallapiccola, Bruno, Tartaglia, Marco, Marino, Bruno, Versacci, Paolo

Source: Birth defects research. 112(10):725-731

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100107399589.0x000001&indx=1&recIds=ETOCvdc_100107399589.0x000001

Delayed appearance of 3‐methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis

Authors: Baban, Anwar, Adorisio, Rachele, Corica, Bernadette, Rizzo, Cristiano, Calì, Federica, Semeraro, Michela, Taurisano, Roberta, Magliozzi, Monia, Carrozzo, Rosalba, Parisi, Francesco, Dallapiccola, Bruno, Vaz, Frédéric M., Drago, Fabrizio, Dionisi‐Vici, Carlo

Source: American journal of medical genetics.Part A. 182(1):64-70

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100095808609.0x000001&indx=1&recIds=ETOCvdc_100095808609.0x000001

Differences in morbidity and mortality in Down syndrome are related to the type of congenital heart defect

Authors: Baban, Anwar, Olivini, Nicole, Cantarutti, Nicoletta, Calì, Federica, Vitello, Carmen, Valentini, Diletta, Adorisio, Rachele, Calcagni, Giulio, Alesi, Viola, Di Mambro, Corrado, Villani, Alberto, Dallapiccola, Bruno, Digilio, Maria Cristina, Marino, Bruno, Carotti, Adriano, Drago, Fabrizio

Source: American journal of medical genetics.Part A. 182(6):1342-1350

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100107348291.0x000001&indx=1&recIds=ETOCvdc_100107348291.0x000001

KBG syndrome: Common and uncommon clinical features based on 31 new patients

Authors: Gnazzo, Maria, Lepri, Francesca R, Dentici, Maria Lisa, Capolino, Rossella, Pisaneschi, Elisa, Agolini, Emanuele, Rinelli, Martina, Alesi, Viola, Versacci, Paolo, Genovese, Silvia, Cesario, Claudia, Sinibaldi, Lorenzo, Baban, Anwar, Bartuli, Andrea, Marino, Bruno, Cappa, Marco, Dallapiccola, Bruno, Novelli, Antonio, Digilio, Maria Cristina

Source: American journal of medical genetics.Part A. 182(5):1073-1083

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100107029496.0x000001&indx=1&recIds=ETOCvdc_100107029496.0x000001