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5. Brugada Syndrome: Focus for the General Pediatrician.

Author

Speranzon, Alessia, Chicco, Daniela, Bonazza, Paolo, D'Alfonso, Raffaele, Bobbo, Marco, D'Agata Mottolese, Biancamaria, Barbi, Egidio, and Caiffa, Thomas

Subjects
RESEARCH funding, BRUGADA syndrome, SYNCOPE, ELECTROCARDIOGRAPHY, ARRHYTHMIA, IMPLANTABLE cardioverter-defibrillators, CARDIAC arrest
Abstract

Brugada Syndrome is an "inherited" channelopathy characterized by a predisposition to syncope and sudden death. It typically presents in young adults but is also known to affect the pediatric population, even if the prevalence is low compared to the adult population. The diagnostic ECG pattern shows coved-type ST-segment elevation in the right precordial leads, occurring spontaneously or after provocative drug tests with IV administration of Class I antiarrhythmic drugs. However, the electrocardiographic findings may vary, and transient or concealed forms of the syndrome further complicate diagnosis, necessitating thorough evaluation and close clinical follow-up. The clinical presentation of Brugada Syndrome may range from asymptomatic individuals to patients who have experienced syncope or sudden cardiac arrest. The syndrome remains underdiagnosed due to its elusive symptoms and the absence of abnormal findings between episodes. Additionally, specific triggers such as fever, certain medications and alcohol consumption may unmask the electrocardiographic changes and provoke arrhythmias in susceptible individuals. Given its elusive nature, early diagnosis and risk stratification are crucial in identifying individuals who may benefit from an implantable cardioverter defibrillator, the mainstay of treatment for high-risk patients, or pharmacological interventions. [ABSTRACT FROM AUTHOR]

Published
2024
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10. Characterization of Cardiac Function by Echocardiographic Global Longitudinal Strain in a Cohort of Children with Neurofibromatosis Type 1 Treated with Selumetinib

Author

Caiffa, Thomas, primary, Tessitore, Antimo, additional, Magnolato, Andrea, additional, Petz, Matilde, additional, Bobbo, Marco, additional, Chicco, Daniela, additional, D’Agata Mottolese, Biancamaria, additional, Porcari, Aldostefano, additional, Barbi, Egidio, additional, Sinagra, Gianfranco, additional, and Bruno, Irene, additional

Published
2022
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12. Long QT syndrome and left ventricular non-compaction in a family with KCNH2 mutation: A case report

Author

Caiffa, Thomas, primary, Tessitore, Antimo, additional, Leoni, Loira, additional, Reffo, Elena, additional, Chicco, Daniela, additional, D'Agata Mottolese, Biancamaria, additional, Rubinato, Elisa, additional, Girotto, Giorgia, additional, Lenarduzzi, Stefania, additional, Barbi, Egidio, additional, Bobbo, Marco, additional, and Di Salvo, Giovanni, additional

Published
2022
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13. Sincope ricorrente: attenti alla coronaria

Author

Tessitore, Antimo, primary, Chicco, Daniela, additional, Trevisiol, Chiara, additional, caiffa, Thomes, additional, Bobbo, Marco, additional, D'Agata Mottolese, Biancamaria, additional, and Barbi, Egidio, additional

Published
2022
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16. Funzione cardiopolmonare in bambini con pregressa infezione da Covid-19 lieve o asintomatica e ritorno all’attività sportiva

Author

Colussi, Laura, primary, Sutera, Marco, additional, Rispoli, Francesco, additional, Barbi, Egidio, additional, Bobbo, marco, additional, caiffa, Thomas, additional, D'Agata Mottolese, Biancamaria, additional, Maschio, Massimo, additional, De Nardi, Laura, additional, Romano, Sara, additional, Mazzolai, Michele, additional, and Chicco, Daniela, additional

Published
2021
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19. Cardio‐pulmonary function among children with mild or asymptomatic COVID ‐19 infection needing certification for return‐to‐play

Author

Chicco, Daniela, primary, Rispoli, Francesco, additional, De Nardi, Laura, additional, Romano, Sara, additional, Mazzolai, Michele, additional, Bobbo, Marco, additional, Tavcar, Irena, additional, Cattarini, Gilberto, additional, Badina, Laura, additional, Barbi, Egidio, additional, and Maschio, Massimo, additional

Published
2021
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23. Anomalous aortic origin of coronary artery: For a challenging diagnosis, a transthoracic echocardiogram is recommended.

Author

Tessitore, Antimo, Caiffa, Thomas, Bobbo, Marco, D'Agata Mottolese, Biancamaria, Barbi, Egidio, and Chicco, Daniela

Subjects
CORONARY arteries, CARDIAC arrest, SYNCOPE, AORTA, MYOCARDIAL ischemia, CHILD patients
Abstract

Anomalous aortic origin of a coronary artery (AAOCA), especially the interarterial course of the right or left coronary artery, predisposes paediatric patients to myocardial ischaemia. This rare condition is a leading cause of sudden cardiac death. General paediatricians face challenges when diagnosing this anomaly, and they should pay particular attention to the recurrence of exercise‐related syncope without prodromal symptoms, chest pain and dyspnoea. An accurate transthoracic echocardiogram with Doppler colour flow mapping is the best method to use to identify AAOCA. Conclusion: Identifying an AAOCA is challenging, and we provide advice on clinical red flags and diagnostic approaches for general paediatricians. [ABSTRACT FROM AUTHOR]

Published
2022
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24. Cardio‐pulmonary function among children with mild or asymptomatic COVID‐19 infection needing certification for return‐to‐play.

Author

Chicco, Daniela, Rispoli, Francesco, De Nardi, Laura, Romano, Sara, Mazzolai, Michele, Bobbo, Marco, Tavcar, Irena, Cattarini, Gilberto, Badina, Laura, Barbi, Egidio, and Maschio, Massimo

Abstract

Aim: To explore the cardio‐pulmonary function of children returning to play sports after mild or asymptomatic SARS‐CoV‐2 infection. Methods: This is a consecutive case series conducted at the Institute for Maternal and Child Health, Trieste, Italy. Paediatric patients who accessed the Institute for cardiologic and pneumological evaluation before the return‐to‐play competitive sports were recruited, according to the Italian Sports Medical Federation recommendations. Echocardiogram, electrocardiogram, treadmill ECG test and pulmonary function tests were performed. Results: One hundred and thirty‐two patients (aged 8–17 years old, mean age 12.8 ± 2.5) were recruited. Among these, 127 children were considered for the final analysis (49.6% females). Out of 127, 84 (66.1%) had a mild symptomatic form of SARS‐CoV‐2 infection, while 43 (33.9%) were asymptomatic. The main referred symptoms were fever (n = 37, 44%), asthenia (n = 14, 16.7%), rhinitis (n = 16, 19%), ageusia (n = 19, 22.6%), anosmia (n = 24, 28.6%), sore throat (n = 3, 3.6%), cough (n = 9, 10.7%), arthralgia‐myalgia (n = 11, 13.1%), headache (n = 23, 27.4%) and gastrointestinal symptoms (n = 7, 8.3%). No child presented evidence of cardio‐pulmonary function impairment after an average time of 77.3 days (SD 35) from SARS‐CoV‐2 swab positivity and a median of 68 days (IQ1 52, IQ3 92.5). Conclusion: This preliminary study suggests that, in the absence of specific symptoms, the diagnostic yield of cardio‐pulmonary tests before returning to play sports may be very low. [ABSTRACT FROM AUTHOR]

Published
2022
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26. Il bambino con il batticuore

Author

Gesuete, Valentina, D'Agata, Biancamaria, Bobbo, Marco, Ventura, Alessandro, Gesuete, Valentina, D'Agata, Biancamaria, Bobbo, Marco, and Ventura, Alessandro

Subjects
Pediatrics, Perinatology and Child Health, Arrhythmia, Evaluation, Palpitation, Perinatology and Child Health, Pediatrics
Abstract

Le palpitazioni rappresentano la percezione del batticuore che di norma è causa di preoccupazione per i pazienti. Negli adulti, il batticuore talvolta rivela seri problemi cardiaci latenti. Tuttavia, le palpitazioni in età pediatrica di norma sono la conseguenza di stimoli fisiologici, come febbre, affaticamento, ansia o anemia piuttosto che problemi gravi (per esempio, aritmia cardiaca). Per giunta, bambini affetti da grave aritmia possono non presentare palpitazioni. L'articolo propone come affrontare un bambino con il batticuore.

Published
2017

28. Infant with poor growth after cardiac surgery: Do not miss the rhythm!

Author

Tessitore, Antimo, Caiffa, Thomas, D'Agata Mottolese, Biancamaria, Chicco, Daniela, Barbi, Egidio, and Bobbo, Marco

Abstract

VSD location is essential in predicting the AV block risk: the closer the defect is to the AV node, the greater the risk of postoperative AV block. The correction of ventricular septal defect located close to the cardiac conduction system has a risk of atrioventricular conduction block. His history was relevant for diagnosing a perimembranous ventricular septal defect (VSD), with a diameter of 7.5 mm and a significant left-to-right shunting, which required cardiac surgery at 4 months of age by a direct autologous pericardium patch closure under cardiopulmonary bypass. [Extracted from the article]

Published
2022
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31. Retrospective study showed that palpitations with tachycardia on admission to a paediatric emergency department were related to cardiac arrhythmias.

Author

Bobbo, Marco, Amoroso, Stefano, Tamaro, Gianluca, Gesuete, Valentina, D'agata Mottolese, Biancamaria, Barbi, Egidio, and Ventura, Alessandro

Subjects
*ARRHYTHMIA in children, *SICK sinus syndrome in children, *PEDIATRIC cardiology, *ARRHYTHMIA, *PALPITATION
Abstract

Aim: This retrospective study reviewed the prevalence and long-term prognosis of children aged 0-18 with palpitations who were admitted to the emergency department (ED) of an Italian paediatric hospital.Methods: We examined all admissions to the ED of the IRCCS Burlo Garofolo between January 2009 and December 2015 by selecting triage diagnoses of palpitations. The hospital discharge cards were reviewed to assess vital parameters, physical examinations, diagnostic tests, cardiology consultations and final diagnoses.Results: Of the 142 803 patients who attended our ED for any reason, 96 (0.07%) complained of palpitations. Despite this low prevalence, it was noteworthy that 13.5% had a real underlying arrhythmic cause and needed medical assistance. Over half (52.1%) were women and the mean age was 12.7 years. At the long-term follow-up, at a mean of 47 ± 23 months, 53.8% of patients with a cardiac arrhythmia had received medical therapy and 46.1% had undergone trans-catheter ablation for supraventricular tachycardia. A heart rate above 146 beats per minute or palpitations for more than an hour was statistically related to a cardiac arrhythmia.Conclusion: Palpitations were an infrequent cause of admission to our ED, but 13.5% who displayed them had an underlying cardiac arrhythmia. [ABSTRACT FROM AUTHOR]

Published
2019
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32. Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.

Author

Arking, Dan E, Pulit, Sara L, Crotti, Lia, van der Harst, Pim, Munroe, Patricia B, Koopmann, Tamara T, Sotoodehnia, Nona, Rossin, Elizabeth J, Morley, Michael, Wang, Xinchen, Johnson, Andrew D, Lundby, Alicia, Gudbjartsson, Daníel F, Noseworthy, Peter A, Eijgelsheim, Mark, Bradford, Yuki, Tarasov, Kirill V, Dörr, Marcus, Müller-Nurasyid, Martina, Lahtinen, Annukka M, Nolte, Ilja M, Smith, Albert Vernon, Bis, Joshua C, Isaacs, Aaron, Newhouse, Stephen J, Evans, Daniel S, Post, Wendy S, Waggott, Daryl, Lyytikäinen, Leo-Pekka, Hicks, Andrew A, Eisele, Lewin, Ellinghaus, David, Hayward, Caroline, Navarro, Pau, Ulivi, Sheila, Tanaka, Toshiko, Tester, David J, Chatel, Stéphanie, Gustafsson, Stefan, Kumari, Meena, Morris, Richard W, Naluai, Asa T, Padmanabhan, Sandosh, Kluttig, Alexander, Strohmer, Bernhard, Panayiotou, Andrie G, Torres, Maria, Knoflach, Michael, Hubacek, Jaroslav A, Slowikowski, Kamil, Raychaudhuri, Soumya, Kumar, Runjun D, Harris, Tamara B, Launer, Lenore J, Shuldiner, Alan R, Alonso, Alvaro, Bader, Joel S, Ehret, Georg, Huang, Hailiang, Kao, W H Linda, Strait, James B, Macfarlane, Peter W, Brown, Morris, Caulfield, Mark J, Samani, Nilesh J, Kronenberg, Florian, Willeit, Johann, Smith, J Gustav, Greiser, Karin H, Meyer Zu Schwabedissen, Henriette, Werdan, Karl, Carella, Massimo, Zelante, Leopoldo, Heckbert, Susan R, Psaty, Bruce M, Rotter, Jerome I, Kolcic, Ivana, Polašek, Ozren, Wright, Alan F, Griffin, Maura, Daly, Mark J, Arnar, David O, Hólm, Hilma, Thorsteinsdottir, Unnur, Denny, Joshua C, Roden, Dan M, Zuvich, Rebecca L, Emilsson, Valur, Plump, Andrew S, Larson, Martin G, O'Donnell, Christopher J, Yin, Xiaoyan, Bobbo, Marco, D'Adamo, Adamo P, Iorio, Annamaria, Sinagra, Gianfranco, Carracedo, Angel, Cummings, Steven R, Nalls, Michael A, Jula, Antti, Kontula, Kimmo K, Marjamaa, Annukka, Oikarinen, Lasse, Perola, Markus, Porthan, Kimmo, Erbel, Raimund, Hoffmann, Per, Jöckel, Karl-Heinz, Kälsch, Hagen, Nöthen, Markus M, den Hoed, Marcel, Loos, Ruth J F, Thelle, Dag S, Gieger, Christian, Meitinger, Thomas, Perz, Siegfried, Peters, Annette, Prucha, Hanna, Sinner, Moritz F, Waldenberger, Melanie, de Boer, Rudolf A, Franke, Lude, van der Vleuten, Pieter A, Beckmann, Britt Maria, Martens, Eimo, Bardai, Abdennasser, Hofman, Nynke, Wilde, Arthur A M, Behr, Elijah R, Dalageorgou, Chrysoula, Giudicessi, John R, Medeiros-Domingo, Argelia, Barc, Julien, Kyndt, Florence, Probst, Vincent, Ghidoni, Alice, Insolia, Roberto, Hamilton, Robert M, Scherer, Stephen W, Brandimarto, Jeffrey, Margulies, Kenneth, Moravec, Christine E, Greco M, Fabiola Del, Fuchsberger, Christian, O'Connell, Jeffrey R, Lee, Wai K, Watt, Graham C M, Campbell, Harry, Wild, Sarah H, El Mokhtari, Nour E, Frey, Norbert, Asselbergs, Folkert W, Mateo Leach, Irene, Navis, Gerjan, van den Berg, Maarten P, van Veldhuisen, Dirk J, Kellis, Manolis, Krijthe, Bouwe P, Franco, Oscar H, Hofman, Albert, Kors, Jan A, Uitterlinden, André G, Witteman, Jacqueline C M, Kedenko, Lyudmyla, Lamina, Claudia, Oostra, Ben A, Abecasis, Gonçalo R, Lakatta, Edward G, Mulas, Antonella, Orrú, Marco, Schlessinger, David, Uda, Manuela, Markus, Marcello R P, Völker, Uwe, Snieder, Harold, Spector, Timothy D, Ärnlöv, Johan, Lind, Lars, Sundström, Johan, Syvänen, Ann-Christine, Kivimaki, Mika, Kähönen, Mika, Mononen, Nina, Raitakari, Olli T, Viikari, Jorma S, Adamkova, Vera, Kiechl, Stefan, Brion, Maria, Nicolaides, Andrew N, Paulweber, Bernhard, Haerting, Johannes, Dominiczak, Anna F, Nyberg, Fredrik, Whincup, Peter H, Hingorani, Aroon D, Schott, Jean-Jacques, Bezzina, Connie R, Ingelsson, Erik, Ferrucci, Luigi, Gasparini, Paolo, Wilson, James F, Rudan, Igor, Franke, Andre, Mühleisen, Thomas W, Pramstaller, Peter P, Lehtimäki, Terho J, Paterson, Andrew D, Parsa, Afshin, Liu, Yongmei, van Duijn, Cornelia M, Siscovick, David S, Gudnason, Vilmundur, Jamshidi, Yalda, Salomaa, Veikko, Felix, Stephan B, Sanna, Serena, Ritchie, Marylyn D, Stricker, Bruno H, Stefansson, Kari, Boyer, Laurie A, Cappola, Thomas P, Olsen, Jesper V, Lage, Kasper, Schwartz, Peter J, Kääb, Stefan, Chakravarti, Aravinda, Ackerman, Michael J, Pfeufer, Arne, de Bakker, Paul I W, Newton-Cheh, Christopher, Arking, Dan E, Pulit, Sara L, Crotti, Lia, van der Harst, Pim, Munroe, Patricia B, Koopmann, Tamara T, Sotoodehnia, Nona, Rossin, Elizabeth J, Morley, Michael, Wang, Xinchen, Johnson, Andrew D, Lundby, Alicia, Gudbjartsson, Daníel F, Noseworthy, Peter A, Eijgelsheim, Mark, Bradford, Yuki, Tarasov, Kirill V, Dörr, Marcus, Müller-Nurasyid, Martina, Lahtinen, Annukka M, Nolte, Ilja M, Smith, Albert Vernon, Bis, Joshua C, Isaacs, Aaron, Newhouse, Stephen J, Evans, Daniel S, Post, Wendy S, Waggott, Daryl, Lyytikäinen, Leo-Pekka, Hicks, Andrew A, Eisele, Lewin, Ellinghaus, David, Hayward, Caroline, Navarro, Pau, Ulivi, Sheila, Tanaka, Toshiko, Tester, David J, Chatel, Stéphanie, Gustafsson, Stefan, Kumari, Meena, Morris, Richard W, Naluai, Asa T, Padmanabhan, Sandosh, Kluttig, Alexander, Strohmer, Bernhard, Panayiotou, Andrie G, Torres, Maria, Knoflach, Michael, Hubacek, Jaroslav A, Slowikowski, Kamil, Raychaudhuri, Soumya, Kumar, Runjun D, Harris, Tamara B, Launer, Lenore J, Shuldiner, Alan R, Alonso, Alvaro, Bader, Joel S, Ehret, Georg, Huang, Hailiang, Kao, W H Linda, Strait, James B, Macfarlane, Peter W, Brown, Morris, Caulfield, Mark J, Samani, Nilesh J, Kronenberg, Florian, Willeit, Johann, Smith, J Gustav, Greiser, Karin H, Meyer Zu Schwabedissen, Henriette, Werdan, Karl, Carella, Massimo, Zelante, Leopoldo, Heckbert, Susan R, Psaty, Bruce M, Rotter, Jerome I, Kolcic, Ivana, Polašek, Ozren, Wright, Alan F, Griffin, Maura, Daly, Mark J, Arnar, David O, Hólm, Hilma, Thorsteinsdottir, Unnur, Denny, Joshua C, Roden, Dan M, Zuvich, Rebecca L, Emilsson, Valur, Plump, Andrew S, Larson, Martin G, O'Donnell, Christopher J, Yin, Xiaoyan, Bobbo, Marco, D'Adamo, Adamo P, Iorio, Annamaria, Sinagra, Gianfranco, Carracedo, Angel, Cummings, Steven R, Nalls, Michael A, Jula, Antti, Kontula, Kimmo K, Marjamaa, Annukka, Oikarinen, Lasse, Perola, Markus, Porthan, Kimmo, Erbel, Raimund, Hoffmann, Per, Jöckel, Karl-Heinz, Kälsch, Hagen, Nöthen, Markus M, den Hoed, Marcel, Loos, Ruth J F, Thelle, Dag S, Gieger, Christian, Meitinger, Thomas, Perz, Siegfried, Peters, Annette, Prucha, Hanna, Sinner, Moritz F, Waldenberger, Melanie, de Boer, Rudolf A, Franke, Lude, van der Vleuten, Pieter A, Beckmann, Britt Maria, Martens, Eimo, Bardai, Abdennasser, Hofman, Nynke, Wilde, Arthur A M, Behr, Elijah R, Dalageorgou, Chrysoula, Giudicessi, John R, Medeiros-Domingo, Argelia, Barc, Julien, Kyndt, Florence, Probst, Vincent, Ghidoni, Alice, Insolia, Roberto, Hamilton, Robert M, Scherer, Stephen W, Brandimarto, Jeffrey, Margulies, Kenneth, Moravec, Christine E, Greco M, Fabiola Del, Fuchsberger, Christian, O'Connell, Jeffrey R, Lee, Wai K, Watt, Graham C M, Campbell, Harry, Wild, Sarah H, El Mokhtari, Nour E, Frey, Norbert, Asselbergs, Folkert W, Mateo Leach, Irene, Navis, Gerjan, van den Berg, Maarten P, van Veldhuisen, Dirk J, Kellis, Manolis, Krijthe, Bouwe P, Franco, Oscar H, Hofman, Albert, Kors, Jan A, Uitterlinden, André G, Witteman, Jacqueline C M, Kedenko, Lyudmyla, Lamina, Claudia, Oostra, Ben A, Abecasis, Gonçalo R, Lakatta, Edward G, Mulas, Antonella, Orrú, Marco, Schlessinger, David, Uda, Manuela, Markus, Marcello R P, Völker, Uwe, Snieder, Harold, Spector, Timothy D, Ärnlöv, Johan, Lind, Lars, Sundström, Johan, Syvänen, Ann-Christine, Kivimaki, Mika, Kähönen, Mika, Mononen, Nina, Raitakari, Olli T, Viikari, Jorma S, Adamkova, Vera, Kiechl, Stefan, Brion, Maria, Nicolaides, Andrew N, Paulweber, Bernhard, Haerting, Johannes, Dominiczak, Anna F, Nyberg, Fredrik, Whincup, Peter H, Hingorani, Aroon D, Schott, Jean-Jacques, Bezzina, Connie R, Ingelsson, Erik, Ferrucci, Luigi, Gasparini, Paolo, Wilson, James F, Rudan, Igor, Franke, Andre, Mühleisen, Thomas W, Pramstaller, Peter P, Lehtimäki, Terho J, Paterson, Andrew D, Parsa, Afshin, Liu, Yongmei, van Duijn, Cornelia M, Siscovick, David S, Gudnason, Vilmundur, Jamshidi, Yalda, Salomaa, Veikko, Felix, Stephan B, Sanna, Serena, Ritchie, Marylyn D, Stricker, Bruno H, Stefansson, Kari, Boyer, Laurie A, Cappola, Thomas P, Olsen, Jesper V, Lage, Kasper, Schwartz, Peter J, Kääb, Stefan, Chakravarti, Aravinda, Ackerman, Michael J, Pfeufer, Arne, de Bakker, Paul I W, and Newton-Cheh, Christopher

Abstract

The QT interval, an electrocardiographic measure reflecting myocardial repolarization, is a heritable trait. QT prolongation is a risk factor for ventricular arrhythmias and sudden cardiac death (SCD) and could indicate the presence of the potentially lethal mendelian long-QT syndrome (LQTS). Using a genome-wide association and replication study in up to 100,000 individuals, we identified 35 common variant loci associated with QT interval that collectively explain ∼8-10% of QT-interval variation and highlight the importance of calcium regulation in myocardial repolarization. Rare variant analysis of 6 new QT interval-associated loci in 298 unrelated probands with LQTS identified coding variants not found in controls but of uncertain causality and therefore requiring validation. Several newly identified loci encode proteins that physically interact with other recognized repolarization proteins. Our integration of common variant association, expression and orthogonal protein-protein interaction screens provides new insights into cardiac electrophysiology and identifies new candidate genes for ventricular arrhythmias, LQTS and SCD.

Published
2014
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35. Newborn with hydrops fetalis and a severe supraventricular arrhythmia.

Author

Battistuz, Elena, Travan, Laura, Bua, Jenny, Trappan, Antonella, Galdo, Francesca, Bobbo, Marco, Barbi, Egidio, Maria Risso, Francesco, and Risso, Francesco Maria

Subjects
HYDROPS fetalis, ARRHYTHMIA, POLYHYDRAMNIOS, DRUG side effects, PROGNOSIS, CARDIAC hypertrophy
Abstract

1 The prognosis for WPW syndrome is good as the ECG pattern resolves mostly within 1 year of age, with the loss of conduction of the accessory pathway. Echocardiography showed severe tricuspid insufficiency and dilated right cardiac chambers. Prenatal ultrasound showed a moderate enlargement of the right heart sections with a mild tricuspid insufficiency, without tachycardia, polyhydramnios, placentamegaly, renal agenesis and oesophageal atresia. [Extracted from the article]

Published
2021
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36. Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

Author

Arking, Dan E., Pulit, Sara L., Crotti, Lia, van der Harst, Pim, Munroe, Patricia B., Koopmann, Tamara T., Sotoodehnia, Nona, Rossin, Elizabeth J., Morley, Michael, Wang, Xinchen, Johnson, Andrew D., Lundby, Alicia, Gudbjartsson, Daníel F., Noseworthy, Peter A., Eijgelsheim, Mark, Bradford, Yuki, Tarasov, Kirill V., Dörr, Marcus, Müller-Nurasyid, Martina, Lahtinen, Annukka M., Nolte, Ilja M., Smith, Albert Vernon, Bis, Joshua C., Isaacs, Aaron, Newhouse, Stephen J., Evans, Daniel S., Post, Wendy S., Waggott, Daryl, Lyytikäinen, Leo-Pekka, Hicks, Andrew A., Eisele, Lewin, Ellinghaus, David, Hayward, Caroline, Navarro, Pau, Ulivi, Sheila, Tanaka, Toshiko, Tester, David J., Chatel, Stéphanie, Gustafsson, Stefan, Kumari, Meena, Morris, Richard W., Naluai, Åsa T., Padmanabhan, Sandosh, Kluttig, Alexander, Strohmer, Bernhard, Panayiotou, Andrie G., Torres, Maria, Knoflach, Michael, Hubacek, Jaroslav A., Slowikowski, Kamil, Raychaudhuri, Soumya, Kumar, Runjun D., Harris, Tamara B., Launer, Lenore J., Shuldiner, Alan R., Alonso, Alvaro, Bader, Joel S., Ehret, Georg, Huang, Hailiang, Kao, W.H. Linda, Strait, James B., Macfarlane, Peter W., Brown, Morris, Caulfield, Mark J., Samani, Nilesh J., Kronenberg, Florian, Willeit, Johann, Smith, J. Gustav, Greiser, Karin H., zu Schwabedissen, Henriette Meyer, Werdan, Karl, Carella, Massimo, Zelante, Leopoldo, Heckbert, Susan R., Psaty, Bruce M., Rotter, Jerome I., Kolcic, Ivana, Polašek, Ozren, Wright, Alan F., Griffin, Maura, Daly, Mark J., Arnar, David O., Hólm, Hilma, Thorsteinsdottir, Unnur, Denny, Joshua C., Roden, Dan M., Zuvich, Rebecca L., Emilsson, Valur, Plump, Andrew S., Larson, Martin G., O'Donnell, Christopher J., Yin, Xiaoyan, Bobbo, Marco, D'Adamo, Adamo P., Iorio, Annamaria, Sinagra, Gianfranco, Carracedo, Angel, Cummings, Steven R., Nalls, Michael A., Jula, Antti, Kontula, Kimmo K., Marjamaa, Annukka, Oikarinen, Lasse, Perola, Markus, Porthan, Kimmo, Erbel, Raimund, Hoffmann, Per, Jöckel, Karl-Heinz, Kälsch, Hagen, Nöthen, Markus M., consortium, HRGEN, den Hoed, Marcel, Loos, Ruth J.F., Thelle, Dag S., Gieger, Christian, Meitinger, Thomas, Perz, Siegfried, Peters, Annette, Prucha, Hanna, Sinner, Moritz F., Waldenberger, Melanie, de Boer, Rudolf A., Franke, Lude, van der Vleuten, Pieter A., Beckmann, Britt Maria, Martens, Eimo, Bardai, Abdennasser, Hofman, Nynke, Wilde, Arthur A.M., Behr, Elijah R., Dalageorgou, Chrysoula, Giudicessi, John R., Medeiros-Domingo, Argelia, Barc, Julien, Kyndt, Florence, Probst, Vincent, Ghidoni, Alice, Insolia, Roberto, Hamilton, Robert M., Scherer, Stephen W., Brandimarto, Jeffrey, Margulies, Kenneth, Moravec, Christine E., Fabiola Del, Greco M., Fuchsberger, Christian, O'Connell, Jeffrey R., Lee, Wai K., Watt, Graham C.M., Campbell, Harry, Wild, Sarah H., El Mokhtari, Nour E., Frey, Norbert, Asselbergs, Folkert W., Leach, Irene Mateo, Navis, Gerjan, van den Berg, Maarten P., van Veldhuisen, Dirk J., Kellis, Manolis, Krijthe, Bouwe P., Franco, Oscar H., Hofman, Albert, Kors, Jan A., Uitterlinden, André G., Witteman, Jacqueline C.M., Kedenko, Lyudmyla, Lamina, Claudia, Oostra, Ben A., Abecasis, Gonçalo R., Lakatta, Edward G., Mulas, Antonella, Orrú, Marco, Schlessinger, David, Uda, Manuela, Markus, Marcello R.P., Völker, Uwe, Snieder, Harold, Spector, Timothy D., Ärnlöv, Johan, Lind, Lars, Sundström, Johan, Syvänen, Ann-Christine, Kivimaki, Mika, Kähönen, Mika, Mononen, Nina, Raitakari, Olli T., Viikari, Jorma S., Adamkova, Vera, Kiechl, Stefan, Brion, Maria, Nicolaides, Andrew N., Paulweber, Bernhard, Haerting, Johannes, Dominiczak, Anna F., Nyberg, Fredrik, Whincup, Peter H., Hingorani, Aroon, Schott, Jean-Jacques, Bezzina, Connie R., Ingelsson, Erik, Ferrucci, Luigi, Gasparini, Paolo, Wilson, James F., Rudan, Igor, Franke, Andre, Mühleisen, Thomas W., Pramstaller, Peter P., Lehtimäki, Terho J., Paterson, Andrew D., Parsa, Afshin, Liu, Yongmei, van Duijn, Cornelia, Siscovick, David S., Gudnason, Vilmundur, Jamshidi, Yalda, Salomaa, Veikko, Felix, Stephan B., Sanna, Serena, Ritchie, Marylyn D., Stricker, Bruno H., Stefansson, Kari, Boyer, Laurie A., Cappola, Thomas P., Olsen, Jesper V., Lage, Kasper, Schwartz, Peter J., Kääb, Stefan, Chakravarti, Aravinda, Ackerman, Michael J., Pfeufer, Arne, de Bakker, Paul I.W., and Newton-Cheh, Christopher

Subjects
genome-wide association study, QT interval, Long QT Syndrome, sudden cardiac death, myocardial repolarization, arrhythmias
Abstract

The QT interval, an electrocardiographic measure reflecting myocardial repolarization, is a heritable trait. QT prolongation is a risk factor for ventricular arrhythmias and sudden cardiac death (SCD) and could indicate the presence of the potentially lethal Mendelian Long QT Syndrome (LQTS). Using a genome-wide association and replication study in up to 100,000 individuals we identified 35 common variant QT interval loci, that collectively explain ∼8-10% of QT variation and highlight the importance of calcium regulation in myocardial repolarization. Rare variant analysis of 6 novel QT loci in 298 unrelated LQTS probands identified coding variants not found in controls but of uncertain causality and therefore requiring validation. Several newly identified loci encode for proteins that physically interact with other recognized repolarization proteins. Our integration of common variant association, expression and orthogonal protein-protein interaction screens provides new insights into cardiac electrophysiology and identifies novel candidate genes for ventricular arrhythmias, LQTS,and SCD.

Published
2014
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37. Characterization of Cardiac Function by Echocardiographic Global Longitudinal Strain in a Cohort of Children with Neurofibromatosis Type 1 Treated with Selumetinib

Author

Thomas Caiffa, Antimo Tessitore, Andrea Magnolato, Matilde Petz, Marco Bobbo, Daniela Chicco, Biancamaria D’Agata Mottolese, Aldostefano Porcari, Egidio Barbi, Gianfranco Sinagra, Irene Bruno, Caiffa, Thoma, Tessitore, Antimo, Magnolato, Andrea, Petz, Matilde, Bobbo, Marco, Chicco, Daniela, D'Agata Mottolese, Biancamaria, Porcari, Aldostefano, Barbi, Egidio, Sinagra, Gianfranco, and Bruno, Irene

Subjects
GLS, NF1, Pediatrics, Perinatology and Child Health, Pharmacology (medical)
Abstract

Background: Plexiform neurofibromas are benign neoplasms that develop in 20-50% children with neurofibromatosis type 1 (NF1). Selumetinib was approved as treatment for symptomatic and inoperable plexiform neurofibromas. Subclinical left ventricular ejection fraction reduction is a less common effect of selumetinib. Objective: We aimed to investigate the contractile function of the heart in a cohort of children with NF1 treated with selumetinib. Methods: We designed a cross-sectional study including 17 patients with NF1 who received selumetinib. Echocardiographic parameters were compared with a cohort of 17 healthy children matched by sex and age and another group of 17 children with untreated NF1. Results: Compared with healthy controls, patients with NF1 treated with selumetinib had lower mean values of global longitudinal strain (- 22.9 ± 2% vs -25.5 ± 2%; p = 0.001), fractional shortening (36 ± 4% vs 43 ± 8%; p = 0.02) and tricuspid annular plane systolic excursion (19 ± 3 mm vs 23 ± 2 mm; p = 0.001); no difference was found in left ventricular ejection fraction (63 ± 4% vs 65 ± 3%; p = 0.2 respectively). Median treatment time with selumetinib at the time of the echocardiographic evaluation was 22 ± 16 months. Conclusions: Patients with NF1 treated with selumetinib may experience subtle changes in systolic function identified by global longitudinal strain and not revealed by left ventricular ejection fraction. Global longitudinal strain might be useful to monitor cardiac function in this cohort of patients for the duration of therapy.

Published
2023

38. Cardio‐pulmonary function among children with mild or asymptomatic <scp>COVID</scp> ‐19 infection needing certification for return‐to‐play

Author

Laura De Nardi, Egidio Barbi, Laura Badina, Sara Romano, Marco Bobbo, Michele Mazzolai, Gilberto Cattarini, Massimo Maschio, Francesco Rispoli, Irena Tavcar, Daniela Chicco, Chicco, Daniela, Rispoli, Francesco, De Nardi, Laura, Romano, Sara, Mazzolai, Michele, Bobbo, Marco, Tavcar, Irena, Cattarini, Gilberto, Badina, Laura, Barbi, Egidio, and Maschio, Massimo

Subjects
Male, Pediatrics, medicine.medical_specialty, Certification, Adolescent, Coronavirus disease 2019 (COVID-19), Anosmia, return‐to‐play, COVID-19, adolescent, return-to-play, sport, Child, Female, Humans, Return to Sport, SARS-CoV-2, Ageusia, Asymptomatic, Pulmonary function testing, COVID‐19, Sore throat, Medicine, Treadmill, business.industry, Original Articles, Consecutive case series, Pediatrics, Perinatology and Child Health, Original Article, medicine.symptom, business, Human
Abstract

Aim To explore the cardio-pulmonary function of children returning to play sports after mild or asymptomatic SARS-CoV-2 infection. Methods This is a consecutive case series conducted at the Institute for Maternal and Child Health, Trieste, Italy. Paediatric patients who accessed the Institute for cardiologic and pneumological evaluation before the return-to-play competitive sports were recruited, according to the Italian Sports Medical Federation recommendations. Echocardiogram, electrocardiogram, treadmill ECG test and pulmonary function tests were performed. Results One hundred and thirty-two patients (aged 8-17 years old, mean age 12.8 ± 2.5) were recruited. Among these, 127 children were considered for the final analysis (49.6% females). Out of 127, 84 (66.1%) had a mild symptomatic form of SARS-CoV-2 infection, while 43 (33.9%) were asymptomatic. The main referred symptoms were fever (n = 37, 44%), asthenia (n = 14, 16.7%), rhinitis (n = 16, 19%), ageusia (n = 19, 22.6%), anosmia (n = 24, 28.6%), sore throat (n = 3, 3.6%), cough (n = 9, 10.7%), arthralgia-myalgia (n = 11, 13.1%), headache (n = 23, 27.4%) and gastrointestinal symptoms (n = 7, 8.3%). No child presented evidence of cardio-pulmonary function impairment after an average time of 77.3 days (SD 35) from SARS-CoV-2 swab positivity and a median of 68 days (IQ1 52, IQ3 92.5). Conclusion This preliminary study suggests that, in the absence of specific symptoms, the diagnostic yield of cardio-pulmonary tests before returning to play sports may be very low.

Published
2021

39. Long QT syndrome and left ventricular non-compaction in a family with KCNH2 mutation: A case report

Author

Thomas Caiffa, Antimo Tessitore, Loira Leoni, Elena Reffo, Daniela Chicco, Biancamaria D'Agata Mottolese, Elisa Rubinato, Giorgia Girotto, Stefania Lenarduzzi, Egidio Barbi, Marco Bobbo, Giovanni Di Salvo, Caiffa, Thoma, Tessitore, Antimo, Leoni, Loira, Reffo, Elena, Chicco, Daniela, D'Agata Mottolese, Biancamaria, Rubinato, Elisa, Girotto, Giorgia, Lenarduzzi, Stefania, Barbi, Egidio, Bobbo, Marco, and Di Salvo, Giovanni

Subjects
KCNH2 variant, LQTS, LVNC, left ventricular non-compaction, long QT syndrome, Pediatrics, Perinatology and Child Health, Myocardial non compaction, Long QT, KCNH2 mutation
Abstract

BackgroundLeft ventricular non-compaction (LVNC) is an abnormality of the myocardium, characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. Long QT syndrome (LQTS) is a cardiac ion channelopathy presenting with a prolonged QT interval on resting electrocardiogram and is associated with increased susceptibility to sudden death. The association between LVNC and LQTS is uncommon.Case presentationWe report an Italian family with a novel pathogenic KCNH2 variant who presented with clinical features of LVNC and LQTS. The proband came to our attention after two syncopal episodes without prodromal symptoms. His ECG showed QTc prolongation and deep T wave inversion in anterior leads, and the echocardiogram fulfilled LVNC criteria. After that, also his sister was found to have LQTS and LVNC, while his father only presented LQTS.ConclusionsPhysicians should be aware of the possible association between LVNC and LQTS. Even if this association is rare, patients with LVNC should be investigated for LQTS to prevent possible severe or even life-threatening arrhythmic episodes.

Published
2022

40. Anomalous aortic origin of coronary artery: For a challenging diagnosis, a transthoracic echocardiogram is recommended

Author

Daniela Chicco, Biancamaria D'Agata Mottolese, Antimo Tessitore, Thomas Caiffa, Egidio Barbi, Marco Bobbo, Tessitore, Antimo, Caiffa, Thoma, Bobbo, Marco, D'Agata Mottolese, Biancamaria, Barbi, Egidio, and Chicco, Daniela

Subjects
medicine.medical_specialty, Chest Pain, coronary artery, Coronary Vessel Anomalies, anomalous origin, Chest pain, sudden cardiac death, Sudden cardiac death, Left coronary artery, Internal medicine, medicine.artery, medicine, Humans, Child, exertional syncope, Aorta, Paediatric patients, business.industry, Doppler colour flow, General Medicine, medicine.disease, medicine.anatomical_structure, Echocardiography, Anomalous aortic origin of a coronary artery, Pediatrics, Perinatology and Child Health, Cardiology, medicine.symptom, Transthoracic echocardiogram, business, transthoracic echocardiogram, Artery, Human
Abstract

Anomalous aortic origin of a coronary artery (AAOCA), especially the interarterial course of the right or left coronary artery, predisposes paediatric patients to myocardial ischaemia. This rare condition is a leading cause of sudden cardiac death. General paediatricians face challenges when diagnosing this anomaly, and they should pay particular attention to the recurrence of exercise-related syncope without prodromal symptoms, chest pain and dyspnoea. An accurate transthoracic echocardiogram with Doppler colour flow mapping is the best method to use to identify AAOCA. CONCLUSION: Identifying an AAOCA is challenging, and we provide advice on clinical red flags and diagnostic approaches for general paediatricians.

Published
2022

41. Infant with poor growth after cardiac surgery: Do not miss the rhythm!

Author

Thomas Caiffa, Biancamaria D'Agata Mottolese, Marco Bobbo, Egidio Barbi, Antimo Tessitore, Daniela Chicco, Tessitore, Antimo, Caiffa, Thoma, D'Agata Mottolese, Biancamaria, Chicco, Daniela, Barbi, Egidio, and Bobbo, Marco

Subjects
medicine.medical_specialty, business.industry, MEDLINE, Infant, Cardiac surgery, Text mining, Rhythm, Pediatrics, Perinatology and Child Health, medicine, Cardiac Surgical Procedure, Intensive care medicine, business, Sudden Infant Death, Human
Abstract

N/A

Published
2022

42. Infant with rapidly progressive respiratory distress

Author

Giorgio Cozzi, Egidio Barbi, Lorenzo Calligaris, Marco Bobbo, Daniela Chicco, Stefano Pintaldi, Alessia Giuseppina Servidio, Pintaldi, Stefano, Servidio, Alessia Giuseppina, Bobbo, Marco, Chicco, Daniela, Calligaris, Lorenzo, Barbi, Egidio, and Cozzi, Giorgio

Subjects
Respiratory rate, Pleural effusion, Resuscitation, resuscitation, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, medicine, Humans, Respiratory Distress Syndrome, Respiratory Distress Syndrome, Newborn, Lung, Respiratory distress, medicine.diagnostic_test, business.industry, cardiology, pathology, pharmacology, Infant, Newborn, Infant, medicine.disease, medicine.anatomical_structure, Dyspnea, Heart failure, Anesthesia, Pediatrics, Perinatology and Child Health, Crackles, medicine.symptom, Chest radiograph, business, Nasal cannula
Abstract

A 7-month-old girl presented to the emergency department with a 12-hour history of difficult breathing. The girl was alert but with a severe tachy-dyspnoea, chest retractions and nodding. Vital signs showed: respiratory rate 70/min, pulse rate 150/min and oxygen saturation 92% on room air. At chest auscultation, mild bilateral basal crackles were noted. Repeated albuterol inhalations, systemic steroid and oxygen administration through high flow nasal cannula were administered, but respiratory distress worsened in the next 2 hours. Capillary blood gas analysis showed: pH 7.37 pCO2 27 mm Hg, HCO3 17 mm Hg. A chest radiograph was performed (figure 1). Figure 1 Chest X-ray shows enlargement of the cardiac silhouette with abnormal lung fields characterised by alveolar oedema, air bronchogram on the right side and left basal pleural effusion. 1. Which is the most likely diagnosis in this patient? 1. Bronchiolitis 2. Acute respiratory distress syndrome 3. Acute heart failure secondary to dilated cardiomyopathy 4. Diabetic ketoacidosis 2. Which test may help to confirm …

Published
2020

43. Retrospective study showed that palpitations with tachycardia on admission to a paediatric emergency department were related to cardiac arrhythmias

Author

Valentina Gesuete, Gianluca Tamaro, Stefano Amoroso, Marco Bobbo, Egidio Barbi, Biancamaria D'Agata Mottolese, Alessandro Ventura, Bobbo M., Amoroso S., Tamaro G., Gesuete V., D'agata Mottolese B., Barbi E., Ventura A., Bobbo, Marco, Amoroso, Stefano, Tamaro, Gianluca, Gesuete, Valentina, D'agata Mottolese, Biancamaria, Barbi, Egidio, and Ventura, Alessandro

Subjects
Cardiac arrhythmias, Tachycardia, Male, medicine.medical_specialty, Adolescent, Prognosi, Children, Emergency department, Palpitations, Supraventricular tachycardia, Pediatrics, Perinatology and Child Health, Pediatrics, Cardiac arrhythmia, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Heart rate, Prevalence, Humans, Medicine, 030212 general & internal medicine, Child, Palpitation, Retrospective Studies, business.industry, Infant, Retrospective cohort study, Arrhythmias, Cardiac, General Medicine, Perinatology and Child Health, Prognosis, medicine.disease, Hospitals, Pediatric, Triage, Italy, Child, Preschool, Emergency medicine, Female, medicine.symptom, business, Emergency Service, Hospital, Human
Abstract

Aim This retrospective study reviewed the prevalence and long-term prognosis of children aged 0-18 with palpitations who were admitted to the emergency department (ED) of an Italian paediatric hospital. Methods We examined all admissions to the ED of the IRCCS Burlo Garofolo between January 2009 and December 2015 by selecting triage diagnoses of palpitations. The hospital discharge cards were reviewed to assess vital parameters, physical examinations, diagnostic tests, cardiology consultations and final diagnoses. Results Of the 142 803 patients who attended our ED for any reason, 96 (0.07%) complained of palpitations. Despite this low prevalence, it was noteworthy that 13.5% had a real underlying arrhythmic cause and needed medical assistance. Over half (52.1%) were women and the mean age was 12.7 years. At the long-term follow-up, at a mean of 47 ± 23 months, 53.8% of patients with a cardiac arrhythmia had received medical therapy and 46.1% had undergone trans-catheter ablation for supraventricular tachycardia. A heart rate above 146 beats per minute or palpitations for more than an hour was statistically related to a cardiac arrhythmia. Conclusion Palpitations were an infrequent cause of admission to our ED, but 13.5% who displayed them had an underlying cardiac arrhythmia.

Published
2019

44. Comparison of Patient Characteristics and Course of Hypertensive Hypokinetic Cardiomyopathy Versus Idiopathic Dilated Cardiomyopathy

Author

Gianfranco Sinagra, Annamaria Iorio, Marco Merlo, Laura Massa, Andrea Di Lenarda, Bruno Pinamonti, Stefano Poli, Federica Ramani, Davide Stolfo, Giulia Barbati, Marco Bobbo, Sara Scapol, Marta Gigli, Cosimo Carriere, Bobbo, Marco, Pinamonti, Bruno, Merlo, Marco, Stolfo, Davide, Iorio, Annamaria, Ramani, Federica, Barbati, Giulia, Carriere, Cosimo, Massa, Laura, Poli, Stefano, Scapol, Sara, Gigli, Marta, DI LENARDA, Andrea, and Sinagra, Gianfranco

Subjects
Adult, Cardiomyopathy, Dilated, Male, medicine.medical_specialty, Adrenergic beta-Antagonists, Cardiomyopathy, Amiodarone, Angiotensin-Converting Enzyme Inhibitors, 030204 cardiovascular system & hematology, Angiotensin Receptor Antagonists, Ventricular Dysfunction, Left, 03 medical and health sciences, 0302 clinical medicine, Cause of Death, Internal medicine, Idiopathic dilated cardiomyopathy, medicine, Humans, 030212 general & internal medicine, Mortality, Ventricular remodeling, Aged, Mineralocorticoid Receptor Antagonists, Retrospective Studies, Cause of death, Heart Failure, Ejection fraction, Ventricular Remodeling, business.industry, Stroke Volume, Stroke volume, Middle Aged, medicine.disease, Heart failure, Hypertension, Ventricular Fibrillation, Ventricular fibrillation, Disease Progression, Tachycardia, Ventricular, Cardiology, Heart Transplantation, Female, Hypertrophy, Left Ventricular, Heart-Assist Devices, Cardiomyopathies, business, Cardiology and Cardiovascular Medicine, Anti-Arrhythmia Agents
Abstract

Hypertensive hypokinetic cardiomyopathy (HHC) is defined by left ventricular (LV) systolic dysfunction with a history of systemic hypertension as the only possible cause. Although commonly encountered in clinical practice, its characterization and differences with true idiopathic dilated cardiomyopathy (IDC) are lacking. The aim of this study was to characterize the clinical instrumental features and the natural history of HHC. We analyzed the data of 4,191 patients referred to our center for newly diagnosed LV systolic dysfunction from 2005 to 2010. Of them, 310 presented idiopathic LV systolic dysfunction (LV ejection fraction

Published
2017

45. Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

Author

Yuki Bradford, Toshiko Tanaka, Jeffrey R. O'Connell, Florence Kyndt, Unnur Thorsteinsdottir, Ivana Kolcic, Xiaoyan Yin, Vincent Probst, Manolis Kellis, Christopher Newton-Cheh, Stefan Kääb, Argelia Medeiros-Domingo, Markus M. Nöthen, Paolo Gasparini, Jean-Jacques Schott, Ruth J. F. Loos, Thomas W. Mühleisen, Annukka Marjamaa, Morris Brown, Igor Rudan, Runjun D. Kumar, Peter J. Schwartz, Lars Lind, Martina Müller-Nurasyid, Xinchen Wang, Joshua C. Denny, Roberto Insolia, Soumya Raychaudhuri, Stephen W. Scherer, Bruno H. Stricker, Alexander Kluttig, Adamo Pio D'Adamo, Laurie A. Boyer, Moritz F. Sinner, Norbert Frey, Nour Eddine El Mokhtari, Thomas Meitinger, Jesper V. Olsen, Gerjan Navis, Steven R. Cummings, Richard W Morris, Nynke Hofman, Marcel den Hoed, Rudolf A. de Boer, Gonçalo R. Abecasis, Mark J. Daly, Dan M. Roden, Christian Gieger, Lyudmyla Kedenko, Marcus Dörr, Thomas P. Cappola, Afshin Parsa, Kari Stefansson, Markus Perola, Mark Eijgelsheim, Fredrik Nyberg, Robert M. Hamilton, Yalda Jamshidi, W. H. Linda Kao, Terho Lehtimäki, Annette Peters, David Schlessinger, Peter P. Pramstaller, James F. Wilson, Vilmundur Gudnason, Florian Kronenberg, Aroon D. Hingorani, Connie R. Bezzina, Abdennasser Bardai, Marylyn D. Ritchie, Andrew S. Plump, Johan Sundström, Daryl Waggott, Chrysoula Dalageorgou, Paul I.W. de Bakker, Uwe Völker, Aaron Isaacs, Oscar H. Franco, Yongmei Liu, Andrew N. Nicolaides, Lia Crotti, Cornelia M. van Duijn, Ben A. Oostra, Arne Pfeufer, Karl Werdan, Michael Morley, Jan A. Kors, Julien Barc, Lewin Eisele, Siegfried Perz, Stéphanie Chatel, Pieter A. van der Vleuten, Sara L. Pulit, Anna F. Dominiczak, Harry Campbell, Alice Ghidoni, Irene Mateo Leach, Nona Sotoodehnia, Nina Mononen, Henriette E. Meyer zu Schwabedissen, Alvaro Alonso, Fabiola Del Greco M, Dan E. Arking, Vera Adamkova, Mike A. Nalls, Valur Emilsson, Edward G. Lakatta, Kirill Tarasov, Alan F. Wright, Lenore J. Launer, Erik Ingelsson, Karin Halina Greiser, Ozren Polasek, Massimo Carella, Daniel F. Gudbjartsson, Bouwe P. Krijthe, Hanna Prucha, Per Hoffmann, Maura Griffin, Stefan Kiechl, Angel Carracedo, Ilja M. Nolte, Christine E. Moravec, Johann Willeit, Joshua C. Bis, Patricia B. Munroe, Marcello Ricardo Paulista Markus, Hailiang Huang, Mika Kähönen, Albert Hofman, Peter H. Whincup, Dirk J. van Veldhuisen, Michael Knoflach, Alicia Lundby, Serena Sanna, Hagen Kälsch, Bernhard Paulweber, Kamil Slowikowski, Luigi Ferrucci, Melanie Waldenberger, Marco Bobbo, Annukka M. Lahtinen, Ann-Christine Syvänen, J. Gustav Smith, Åsa Torinsson Naluai, Jaroslav A. Hubacek, Jeffrey Brandimarto, Wendy S. Post, Lude Franke, Mark J. Caulfield, Folkert W. Asselbergs, André G. Uitterlinden, Stefan Gustafsson, Pim van der Harst, David J. Tester, David S. Siscovick, David O. Arnar, Sarah H Wild, Elizabeth J. Rossin, Albert V. Smith, Bruce M. Psaty, Georg Ehret, Alan R. Shuldiner, Stephen Newhouse, Kimmo Kontula, Maria Brion, Andre Franke, Peter W. Macfarlane, Mika Kivimäki, Tamara B. Harris, Lasse Oikarinen, Tamara T. Koopmann, Kenneth B. Margulies, Aravinda Chakravarti, Gianfranco Sinagra, Maarten P. van den Berg, Veikko Salomaa, Karl-Heinz Jöckel, Daniel S. Evans, Caroline Hayward, Kimmo Porthan, Michael J. Ackerman, Jacqueline C.M. Witteman, Arthur A.M. Wilde, Martin G. Larson, Kasper Lage, Manuela Uda, Susan R. Heckbert, Joel S. Bader, Graham Watt, María Dolores Torres, Stephan B. Felix, Jerome I. Rotter, Pau Navarro, Meena Kumari, Johan Ärnlöv, Andrew D. Paterson, Antti Jula, Olli T. Raitakari, Raimund Erbel, Christopher J. O'Donnell, Britt M. Beckmann, Peter A. Noseworthy, Tim D. Spector, Wai K. Lee, Leopoldo Zelante, Nilesh J. Samani, John R. Giudicessi, Harold Snieder, Dag S. Thelle, David Ellinghaus, Eimo Martens, James B. Strait, Jorma S. A. Viikari, Andrew D. Johnson, Antonella Mulas, Hilma Holm, Johannes Haerting, Annamaria Iorio, Rebecca L. Zuvich, Sheila Ulivi, Andrew A. Hicks, Elijah R. Behr, Leo-Pekka Lyytikäinen, Bernhard Strohmer, Marco Orru, Claudia Lamina, Sandosh Padmanabhan, Christian Fuchsberger, Andrie G. Panayiotou, Ehret, Georg Benedikt, Internal Medicine, Public Health, Epidemiology, Rehabilitation Medicine, Medical Informatics, Clinical Genetics, Cardiovascular Centre (CVC), Life Course Epidemiology (LCE), Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Lifestyle Medicine (LM), Groningen Kidney Center (GKC), Vascular Ageing Programme (VAP), Ethical, Legal, Social Issues in Genetics (ELSI), Stem Cell Aging Leukemia and Lymphoma (SALL), Arking, D, Pulit, S, Crotti, L, van der Harst, P, Munroe, P, Koopmann, T, Sotoodehnia, N, Rossin, E, Morley, M, Wang, X, Johnson, A, Lundby, A, Gudbjartsson, D, Noseworthy, P, Eijgelsheim, M, Bradford, Y, Tarasov, K, Dörr, M, Müller-Nurasyid, M, Lahtinen, A, Nolte, I, Smith, A, Bis, J, Isaacs, A, Newhouse, S, Evans, D, Post, W, Waggott, D, Lyytikäinen, L, Hicks, A, Eisele, L, Ellinghaus, D, Hayward, C, Navarro, P, Ulivi, S, Tanaka, T, Tester, D, Chatel, S, Gustafsson, S, Kumari, M, Morris, R, Naluai, A, Padmanabhan, S, Kluttig, A, Strohmer, B, Panayiotou, A, Torres, M, Knoflach, M, Hubacek, J, Slowikowski, K, Raychaudhuri, S, Kumar, R, Harris, T, Launer, L, Shuldiner, A, Alonso, A, Bader, J, Ehret, G, Huang, H, Kao, W, Strait, J, Macfarlane, P, Brown, M, Caulfield, M, Samani, N, Kronenberg, F, Willeit, J, Smith, J, Greiser, K, Meyer Zu Schwabedissen, H, Werdan, K, Carella, M, Zelante, L, Heckbert, S, Psaty, B, Rotter, J, Kolcic, I, Polašek, O, Wright, A, Griffin, M, Daly, M, Arnar, D, Hólm, H, Thorsteinsdottir, U, Denny, J, Roden, D, Zuvich, R, Emilsson, V, Plump, A, Larson, M, O'Donnell, C, Yin, X, Bobbo, M, D'Adamo, A, Iorio, A, Sinagra, G, Carracedo, A, Cummings, S, Nalls, M, Jula, A, Kontula, K, Marjamaa, A, Oikarinen, L, Perola, M, Porthan, K, Erbel, R, Hoffmann, P, Jöckel, K, Kälsch, H, Nöthen, M, den Hoed, M, Loos, R, Thelle, D, Gieger, C, Meitinger, T, Perz, S, Peters, A, Prucha, H, Sinner, M, Waldenberger, M, de Boer, R, Franke, L, van der Vleuten, P, Beckmann, B, Martens, E, Bardai, A, Hofman, N, Wilde, A, Behr, E, Dalageorgou, C, Giudicessi, J, Medeiros-Domingo, A, Kyndt, F, Probst, V, Ghidoni, A, Insolia, R, Hamilton, R, Scherer, S, Brandimarto, J, Margulies, K, Moravec, C, Greco, M, Fuchsberger, C, O'Connell, J, Lee, W, Watt, G, Campbell, H, Wild, S, El Mokhtari, N, Frey, N, Asselbergs, F, Mateo Leach, I, Navis, G, van den Berg, M, van Veldhuisen, D, Kellis, M, Krijthe, B, Franco, O, Hofman, A, Kors, J, Uitterlinden, A, Witteman, J, Kedenko, L, Lamina, C, Oostra, B, Abecasis, G, Lakatta, E, Mulas, A, Orrú, M, Schlessinger, D, Uda, M, Markus, M, Völker, U, Snieder, H, Spector, T, Arnlöv, J, Lind, L, Sundström, J, Syvänen, A, Kivimaki, M, Kähönen, M, Mononen, N, Raitakari, O, Viikari, J, Adamkova, V, Kiechl, S, Brion, M, Nicolaides, A, Paulweber, B, Haerting, J, Dominiczak, A, Nyberg, F, Whincup, P, Hingorani, A, Schott, J, Bezzina, C, Ingelsson, E, Ferrucci, L, Gasparini, P, Wilson, J, Rudan, I, Franke, A, Mühleisen, T, Pramstaller, P, Lehtimäki, T, Paterson, A, Parsa, A, Liu, Y, van Duijn, C, Siscovick, D, Gudnason, V, Jamshidi, Y, Salomaa, V, Felix, S, Sanna, S, Ritchie, M, Stricker, B, Stefansson, K, Boyer, L, Cappola, T, Olsen, J, Lage, K, Schwartz, P, Kääb, S, Chakravarti, A, Ackerman, M, Pfeufer, A, de Bakker, P, Newton-Cheh, C, Arking, Dan E., Pulit, Sara L., Crotti, Lia, Van Der Harst, Pim, Munroe, Patricia B., Koopmann, Tamara T., Sotoodehnia, Nona, Rossin, Elizabeth J., Morley, Michael, Wang, Xinchen, Johnson, Andrew D., Lundby, Alicia, Gudbjartsson, Daníel F., Noseworthy, Peter A., Eijgelsheim, Mark, Bradford, Yuki, Tarasov, Kirill V., Dörr, Marcu, Müller Nurasyid, Martina, Lahtinen, Annukka M., Nolte, Ilja M., Smith, Albert Vernon, Bis, Joshua C., Isaacs, Aaron, Newhouse, Stephen J., Evans, Daniel S., Post, Wendy S., Waggott, Daryl, Lyytikäinen, Leo Pekka, Hicks, Andrew A., Eisele, Lewin, Ellinghaus, David, Hayward, Caroline, Navarro, Pau, Ulivi, Sheila, Tanaka, Toshiko, Tester, David J., Chatel, Stéphanie, Gustafsson, Stefan, Kumari, Meena, Morris, Richard W., Naluai, Asa T., Padmanabhan, Sandosh, Kluttig, Alexander, Strohmer, Bernhard, Panayiotou, Andrie G., Torres, Maria, Knoflach, Michael, Hubacek, Jaroslav A., Slowikowski, Kamil, Raychaudhuri, Soumya, Kumar, Runjun D., Harris, Tamara B., Launer, Lenore J., Shuldiner, Alan R., Alonso, Alvaro, Bader, Joel S., Ehret, Georg, Huang, Hailiang, Kao, W. H. Linda, Strait, James B., Macfarlane, Peter W., Brown, Morri, Caulfield, Mark J., Samani, Nilesh J., Kronenberg, Florian, Willeit, Johann, Smith, J. Gustav, Greiser, Karin H., Zu Schwabedissen, Henriette Meyer, Werdan, Karl, Carella, Massimo, Zelante, Leopoldo, Heckbert, Susan R., Psaty, Bruce M., Rotter, Jerome I., Kolcic, Ivana, Polašek, Ozren, Wright, Alan F., Griffin, Maura, Daly, Mark J., Arnar, David O., Hólm, Hilma, Thorsteinsdottir, Unnur, Denny, Joshua C., Roden, Dan M., Zuvich, Rebecca L., Emilsson, Valur, Plump, Andrew S., Larson, Martin G., O'Donnell, Christopher J., Yin, Xiaoyan, Bobbo, Marco, D'Adamo, ADAMO PIO, Iorio, Annamaria, Sinagra, Gianfranco, Carracedo, Angel, Cummings, Steven R., Nalls, Michael A., Jula, Antti, Kontula, Kimmo K., Marjamaa, Annukka, Oikarinen, Lasse, Perola, Marku, Porthan, Kimmo, Erbel, Raimund, Hoffmann, Per, Jöckel, Karl Heinz, Kälsch, Hagen, Nöthen, Markus M., Den Hoed, Marcel, Loos, Ruth J. F., Thelle, Dag S., Gieger, Christian, Meitinger, Thoma, Perz, Siegfried, Peters, Annette, Prucha, Hanna, Sinner, Moritz F., Waldenberger, Melanie, De Boer, Rudolf A., Franke, Lude, Van Der Vleuten, Pieter A., Beckmann, Britt Maria, Martens, Eimo, Bardai, Abdennasser, Hofman, Nynke, Wilde, Arthur A. M., Behr, Elijah R., Dalageorgou, Chrysoula, Giudicessi, John R., Medeiros Domingo, Argelia, Barc, Julien, Kyndt, Florence, Probst, Vincent, Ghidoni, Alice, Insolia, Roberto, Hamilton, Robert M., Scherer, Stephen W., Brandimarto, Jeffrey, Margulies, Kenneth, Moravec, Christine E., Del Greco M, Fabiola, Fuchsberger, Christian, O'Connell, Jeffrey R., Lee, Wai K., Watt, Graham C. M., Campbell, Harry, Wild, Sarah H., El Mokhtari, Nour E., Frey, Norbert, Asselbergs, Folkert W., Leach, Irene Mateo, Navis, Gerjan, Van Den Berg, Maarten P., Van Veldhuisen, Dirk J., Kellis, Manoli, Krijthe, Bouwe P., Franco, Oscar H., Hofman, Albert, Kors, Jan A., Uitterlinden, André G., Witteman, Jacqueline C. M., Kedenko, Lyudmyla, Lamina, Claudia, Oostra, Ben A., Abecasis, Gonçalo R., Lakatta, Edward G., Mulas, Antonella, Orrú, Marco, Schlessinger, David, Uda, Manuela, Markus, Marcello R. P., Völker, Uwe, Snieder, Harold, Spector, Timothy D., Ärnlöv, Johan, Lind, Lar, Sundström, Johan, Syvänen, Ann Christine, Kivimaki, Mika, Kähönen, Mika, Mononen, Nina, Raitakari, Olli T., Viikari, Jorma S., Adamkova, Vera, Kiechl, Stefan, Brion, Maria, Nicolaides, Andrew N., Paulweber, Bernhard, Haerting, Johanne, Dominiczak, Anna F., Nyberg, Fredrik, Whincup, Peter H., Hingorani, Aroon D., Schott, Jean Jacque, Bezzina, Connie R., Ingelsson, Erik, Ferrucci, Luigi, Gasparini, Paolo, Wilson, James F., Rudan, Igor, Franke, Andre, Mühleisen, Thomas W., Pramstaller, Peter P., Lehtimäki, Terho J., Paterson, Andrew D., Parsa, Afshin, Liu, Yongmei, Van Duijn, Cornelia M., Siscovick, David S., Gudnason, Vilmundur, Jamshidi, Yalda, Salomaa, Veikko, Felix, Stephan B., Sanna, Serena, Ritchie, Marylyn D., Stricker, Bruno H., Stefansson, Kari, Boyer, Laurie A., Cappola, Thomas P., Olsen, Jesper V., Lage, Kasper, Schwartz, Peter J., Kääb, Stefan, Chakravarti, Aravinda, Ackerman, Michael J., Pfeufer, Arne, De Bakker, Paul I. W., Newton Cheh, Christopher, Cardiology, ACS - Amsterdam Cardiovascular Sciences, and Human Genetics

Subjects
Male, Candidate gene, Myocardium/metabolism, LOCI, Medizin, Heart electrophysiology, Genome-wide association study, Arrhythmias, Bioinformatics, Medical and Health Sciences, Heart Ventricle, Sudden cardiac death, Electrocardiography, PR INTERVAL, Arrhythmias, Cardiac/genetics, Death, Sudden, Cardiac/etiology, Genetics, ddc:616, Cardiac electrophysiology, Adult, Aged, Arrhythmias, Cardiac, Calcium Signaling, Death, Sudden, Cardiac, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Heart Ventricles, Humans, Long QT Syndrome, Middle Aged, Myocardium, Polymorphism, Single Nucleotide, COMMON VARIANTS, Heart Ventricles/metabolism, Single Nucleotide, Long QT Syndrome/genetics, CHRONIC HEART-FAILURE, Death, Heart ventricle arrhythmia, genetic association study, gene, SNP, heart, Genome-Wide Association Study/methods, Long QT syndrome, QRS DURATION, Cardiac, Cardiac/etiology, Human, QT interval, congenital, hereditary, and neonatal diseases and abnormalities, Electrocardiography/methods, TRPM7, BIO/18 - GENETICA, Cardiac/genetics, Biology, Article, sudden cardiac death, QRS complex, CARDIAC REPOLARIZATION, medicine, Repolarization, cardiovascular diseases, GENOME-WIDE ASSOCIATION, Polymorphism, MED/01 - STATISTICA MEDICA, calcium, ta1184, Calcium signaling, Calcium Signaling/genetics, MED/11 - MALATTIE DELL'APPARATO CARDIOVASCOLARE, ta3121, Cardiovascular risk, medicine.disease, SARCOPLASMIC-RETICULUM, Sudden, MODEL, Genetic association, myocardial repolarization, Genetic variability, Gene expression, Clinical Medicine, genetic, Controlled study
Abstract

The QT interval, an electrocardiographic measure reflecting myocardial repolarization, is a heritable trait. QT prolongation is a risk factor for ventricular arrhythmias and sudden cardiac death (SCD) and could indicate the presence of the potentially lethal mendelian long-QT syndrome (LQTS). Using a genome-wide association and replication study in up to 100,000 individuals, we identified 35 common variant loci associated with QT interval that collectively explain similar to 8-10% of QT-interval variation and highlight the importance of calcium regulation in myocardial repolarization. Rare variant analysis of 6 new QT interval-associated loci in 298 unrelated probands with LQTS identified coding variants not found in controls but of uncertain causality and therefore requiring validation. Several newly identified loci encode proteins that physically interact with other recognized repolarization proteins. Our integration of common variant association, expression and orthogonal protein-protein interaction screens provides new insights into cardiac electrophysiology and identifies new candidate genes for ventricular arrhythmias, LQTS and SCD.

Published
2014

46. Isolation of the left innominate artery: a question of connection

Author

Daniela Sanabor, A. Benettoni, Marco Bobbo, Alessandro Ventura, Valentina Gesuete, Gesuete V., Sanabor D., Benettoni A., Bobbo M., Ventura A., Gesuete, Valentina, Sanabor, Daniela, Benettoni, Alessandra, Bobbo, Marco, and Ventura, Alessandro

Subjects
medicine.medical_specialty, Aorta, Isolation (health care), business.industry, Infant, Newborn, General Medicine, Infant newborn, Surgery, Connection (mathematics), medicine.anatomical_structure, Internal medicine, medicine.artery, medicine, Cardiology, Humans, Female, business, Cardiology and Cardiovascular Medicine, Prader-Willi Syndrome, Brachiocephalic Trunk, Infant, Premature, Human, Artery
Abstract

Non disponibile

Published
2016

47. Insight into genetic determinants of resting heart rate

Author

Marco Merlo, Sheila Ulivi, Angela D'Eustacchio, Gianfranco Sinagra, Massimo Mezzavilla, Marco Bobbo, Paolo Gasparini, Annamaria Iorio, Mezzavilla, Massimo, Iorio, Annamaria, Bobbo, Marco, D'Eustacchio, Angela, Merlo, Marco, Gasparini, Paolo, Ulivi, Sheila, and Sinagra, Gianfranco

Subjects
CANX, Male, Transcription Factor, Calnexin, DNA-Binding Protein, Single-nucleotide polymorphism, Genome-wide association study, Biology, Polymorphism, Single Nucleotide, Genome Wide Association Study, Isolate populations, MAML1, Regression tree analysis, Resting heart rate, Cardiovascular Diseases, DNA-Binding Proteins, Female, Genome-Wide Association Study, Haplotypes, Heart Rate, Humans, Italy, Middle Aged, Regression Analysis, Transcription Factors, Genetics, Regression Analysi, Cardiovascular Disease, Genetic variation, Haplotype, SNP, Polymorphism, Gene, Isolate population, Regression tree analysi, General Medicine, Single Nucleotide, Quartile, Cohort, Human
Abstract

Background Recent studies suggested that resting heart rate (RHR) might be an independent predictor of cardiovascular mortality and morbidity. Nonetheless, the interrelation between RHR and cardiovascular diseases is not clear. In order to resolve this puzzle, the importance of genetic determinants of RHR has been recently suggested, but it needs to be further investigated. Objective The aim of this study was to estimate the contribution of common genetic variations on RHR using Genome Wide Association Study. Methods We performed a Genome Wide Association Study in an isolated population cohort of 1737 individuals, the Italian Network on Genetic Isolates — Friuli Venezia Giulia (INGI-FVG). Moreover, a haplotype analysis was performed. A regression tree analysis was run to highlight the effect of each haplotype combination on the phenotype. Results A significant level of association (p − 8 ) was detected for Single Nucleotide Polymorphisms (SNPs) in two genes expressed in the heart: MAML1 and CANX . Founding that the three different variants of the haplotype, which encompass both genes, yielded a phenotypic correlation. Indeed, a haplotype in homozygosity is significantly associated with the lower quartile of RHR (RHR ≤ 58 bpm). Moreover no significant association was found between cardiovascular risk factors and the different haplotype combinations. Conclusion Mastermind-like 1 and Calnexin were found to be associated with RHR. We demonstrated a relation between a haplotype and the lower quartile of RHR in our populations. Our findings highlight that genetic determinants of RHR may be implicated in determining cardiovascular diseases and could allow a better risk stratification.

Published
2014

48. [Prevention of heart failure].

Author

Di Lenarda A, Tarantini L, Cherubini A, Pirozzi F, Santangelo S, Bobbo M, and Sinagra G

Subjects
Algorithms, Heart Failure diagnosis, Heart Failure etiology, Humans, Mass Screening, Monitoring, Ambulatory, Primary Prevention, Risk Assessment, Risk Factors, Secondary Prevention, Severity of Illness Index, Tertiary Prevention, Heart Failure prevention & control
Published
2010

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