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21 results on '"Locati, E T"'

1. Standardised assessment of evidence supporting the adoption of mobile health solutions: A Clinical Consensus Statement of the ESC Regulatory Affairs Committee

Author

Caiani, E G, primary, Kemps, H, additional, Hoogendoorn, P, additional, Asteggiano, R, additional, Böhm, A, additional, Borregaard, B, additional, Boriani, G, additional, Brunner La Rocca, H P, additional, Casado-Arroyo, R, additional, Castelletti, S, additional, Christodorescu, R, additional, Cowie, M R, additional, Dendale, P, additional, Dunn, F, additional, Fraser, A G, additional, Lane, D A, additional, Locati, E T, additional, Małaczyńska-Rajpold, K, additional, Merșa, C, additional, Neubeck, L, additional, Parati, G, additional, Plummer, C, additional, Rosano, G, additional, Scherrenberg, M, additional, Smirthwaite, A, additional, and Szymanski, P, additional

Published
2024
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2. Critical appraisal of technologies to assess electrical activity during atrial fibrillation: a position paper from the European Heart Rhythm Association and European Society of Cardiology Working Group on eCardiology in collaboration with the Heart Rhythm Society, Asia Pacific Heart Rhythm Society, Latin American Heart Rhythm Society and Computing in Cardiology

Author

Groot, N. M. S. de, Shah, D., Boyle, P. M., Anter, E., Clifford, G. D., Deisenhofer, I., Deneke, T., Dessel, P. van, Doessel, O., Dilaveris, P., Heinzel, F. R., Kapa, S., Lambiase, P. D., Lumens, J., Platonov, P. G., Ngarmukos, T., Martinez, J. P., Sanchez, A. O., Takahashi, Y., Valdigem, B. P., Veen, A.-J. van der, Vernooy, K., Casado-Arroyo, R., De Potter, T., Dinov, B., Kosiuk, J., Linz, D., Neubeck, L., Svennberg, E., Kim, Y.-H., Wan, E., Lopez-Cabanillas, N., Locati, E. T., Macfarlane, P., and Group, E. S. C. Scientific Document

Subjects
ddc:620, Engineering & allied operations
Abstract

We aim to provide a critical appraisal of basic concepts underlying signal recording and processing technologies applied for (i) atrial fibrillation (AF) mapping to unravel AF mechanisms and/or identifying target sites for AF therapy and (ii) AF detection, to optimize usage of technologies, stimulate research aimed at closing knowledge gaps, and developing ideal AF recording and processing technologies. Recording and processing techniques for assessment of electrical activity during AF essential for diagnosis and guiding ablative therapy including body surface electrocardiograms (ECG) and endo- or epicardial electrograms (EGM) are evaluated. Discussion of (i) differences in uni-, bi-, and multi-polar (omnipolar/Laplacian) recording modes, (ii) impact of recording technologies on EGM morphology, (iii) global or local mapping using various types of EGM involving signal processing techniques including isochronal-, voltage- fractionation-, dipole density-, and rotor mapping, enabling derivation of parameters like atrial rate, entropy, conduction velocity/direction, (iv) value of epicardial and optical mapping, (v) AF detection by cardiac implantable electronic devices containing various detection algorithms applicable to stored EGMs, (vi) contribution of machine learning (ML) to further improvement of signals processing technologies. Recording and processing of EGM (or ECG) are the cornerstones of (body surface) mapping of AF. Currently available AF recording and processing technologies are mainly restricted to specific applications or have technological limitations. Improvements in AF mapping by obtaining highest fidelity source signals (e.g. catheter���electrode combinations) for signal processing (e.g. filtering, digitization, and noise elimination) is of utmost importance. Novel acquisition instruments (multi-polar catheters combined with improved physical modelling and ML techniques) will enable enhanced and automated interpretation of EGM recordings in the near future.

Published
2022
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4. Surface Electrocardiogram Recording: Baseline 12-lead and Ambulatory Electrocardiogram Monitoring

Author

Padeletti, M., Bagliani, G., De Ponti, R., Leonelli, F. M., and Locati, E. T.

Subjects
Body surface mapping, Adult, Aged, 80 and over, Male, Ambulatory ECG recording, Vectorcardiography, Signal Processing, Computer-Assisted, Middle Aged, Electrocardiography, Child, Preschool, Standard ECG, Humans, Female, Child
Abstract

The 12-lead standard electrocardiogram (ECG) is a 10 second recording of human myocytes electrical activity. Filters and oversampling are necessary in order to acquire a smooth signal without distortion. ECG recordings may display ongoing arrhythmias, and some leads may be helpful in formulating the diagnosis. Advanced modalities of baseline ECG recording can be used to extract additional information with significant prognostic value. Ambulatory ECG (AECG) recording is a long-term and low-cost external recording obtained with 1 to 12 leads lasting from 24 to 30 days. For patient comfort, longer AECG recordings use fewer leads.

Published
2019

7. External prolonged electrocardiogram monitoring in unexplained syncope and palpitations: results of the SYNARR-Flash study.

Author

Locati, E. T., Moya, A., Oliveira, M., Tanner, H., Willems, R., Lunati, M., and Brignole, M.

Subjects
ARRHYTHMIA diagnosis, SYNCOPE diagnosis, AMBULATORY electrocardiography, COMPARATIVE studies, INTERNATIONAL relations, LONGITUDINAL method, RESEARCH methodology, MEDICAL cooperation, MULTIVARIATE analysis, RESEARCH, SURVIVAL analysis (Biometry), EVALUATION research
Abstract

Aims: SYNARR-Flash study (Monitoring of SYNcopes and/or sustained palpitations of suspected ARRhythmic origin) is an international, multicentre, observational, prospective trial designed to evaluate the role of external 4-week electrocardiogram (ECG) monitoring in clinical work-up of unexplained syncope and/or sustained palpitations of suspected arrhythmic origin.Methods and Results: Consecutive patients were enrolled within 1 month after unexplained syncope or palpitations (index event) after being discharged from emergency room or hospitalization without a conclusive diagnosis. A 4-week ECG monitoring was obtained by external high-capacity loop recorder (SpiderFlash-T(®), Sorin) storing patient-activated and auto-triggered tracings. Diagnostic monitorings included (i) conclusive events with reoccurrence of syncope or palpitation with concomitant ECG recording (with/without arrhythmias) and (ii) events with asymptomatic predefined significant arrhythmias (sustained supraventricular or ventricular tachycardia, advanced atrio-ventricular block, sinus bradycardia <30 b.p.m., pauses >6 s). SYNARR-Flash study enrolled 395 patients (57.7% females, 56.9 ± 18.7 years, 28.1% with syncope, and 71.9% with palpitations) from 10 European centres. For syncope, the 4-week diagnostic yield was 24.5%, and predictors of diagnostic events were early start of recording (0-15 vs. >15 days after index event) (OR 6.2, 95% CI 1.3-29.6, P = 0.021) and previous history of supraventricular arrhythmias (OR 3.6, 95% CI 1.4-9.7, P = 0.018). For palpitations, the 4-week diagnostic yield was 71.6% and predictors of diagnostic events were history of recurrent palpitations (P < 0.001) and early start of recording (P = 0.001).Conclusion: The 4-week external ECG monitoring can be considered as first-line tool in the diagnostic work-up of syncope and palpitation. Early recorder use, history of supraventricular arrhythmia, and frequent previous events increased the likelihood of diagnostic events during the 4-week external ECG monitoring. [ABSTRACT FROM AUTHOR]

Published
2016
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8. Poster Session 2

Author

Andersson, T., primary, Magnusson, A., additional, Bryngelsson, I.- L., additional, Frobert, O., additional, Henriksson, K. M., additional, Edvardsson, N., additional, Poci, D., additional, Polovina, M., additional, Potpara, T., additional, Licina, M., additional, Mujovic, N., additional, Kocijancic, A., additional, Simic, D., additional, Ostojic, M. C., additional, Providencia, R. A., additional, Botelho, A., additional, Trigo, J., additional, Nascimento, J., additional, Quintal, N., additional, Mota, P., additional, Leitao-Marques, A. M., additional, Bosch, R. F., additional, Kirch, W., additional, Rosin, L., additional, Willich, S. N., additional, Pittrow, D., additional, Bonnemeier, H., additional, Valenza, M. C., additional, Martin, L., additional, Munoz Casaubon, T., additional, Valenza, G., additional, Botella, M., additional, Serrano, M., additional, Valenza, B., additional, Cabrera, I., additional, Anderson, K., additional, Benzaquen, B. S., additional, Koziolova, N., additional, Nikonova, J., additional, Shilova, Y., additional, Scherr, D., additional, Narayan, S., additional, Wright, M., additional, Krummen, D., additional, Jadidi, A., additional, Jais, P., additional, Haissaguerre, M., additional, Hocini, M., additional, Hunter, R., additional, Liu, Y., additional, Lu, Y., additional, Wang, W., additional, Schilling, R. J., additional, Bernstein, S., additional, Wong, B., additional, Rooke, R., additional, Vasquez, C., additional, Shah, R., additional, Rosenberg, S., additional, Chinitz, L., additional, Morley, G., additional, Bashir Choudhary, M., additional, Holmqvist, F., additional, Carlson, J., additional, Nilsson, H.- J., additional, Platonov, P. G., additional, Jadidi, A. S., additional, Cochet, H., additional, Miyazaki, S., additional, Shah, A. J., additional, Marrouche, N., additional, Calvo, N., additional, Nadal, M., additional, Andreu, D., additional, Tamborero, D., additional, Diaz, F. E., additional, Berruezo, A., additional, Brugada, J., additional, Mont, L., additional, Fichtner, S., additional, Hessling, G., additional, Estner, H. L., additional, Jilek, C., additional, Reents, T., additional, Ammar, S., additional, Wu, J., additional, Deisenhofer, I., additional, Nakanishi, H., additional, Kashiwase, K., additional, Hirata, A., additional, Wada, M., additional, Ueda, Y., additional, Skoda, J., additional, Neuzil, P., additional, Popelova, J., additional, Petru, J., additional, Sediva, L., additional, Reddy, V. Y., additional, Uldry, L., additional, Forclaz, A., additional, Virag, N., additional, Vesin, J.- M., additional, Kappenberger, L., additional, Sehra, R., additional, Briggs, C., additional, Rappel, W.- J., additional, Janotka, M., additional, Chovanec, M., additional, Yamashiro, K., additional, Takami, K., additional, Sakamoto, Y., additional, Satoh, K., additional, Suzuki, T., additional, Nakagawa, H., additional, Romanov, A., additional, Pokushalov, E., additional, Artemenko, S., additional, Shabanov, V., additional, Stenin, I., additional, Elesin, D., additional, Turov, A., additional, Yakubov, A., additional, Hioki, M., additional, Matsuo, S., additional, Ito, K., additional, Narui, R., additional, Yamashita, S., additional, Sugimoto, K., additional, Yoshimura, M., additional, Yamane, T., additional, Di Biase, L., additional, Gallinghouse, J. D., additional, Rajappan, K., additional, Kautzner, J., additional, Dello Russo, A., additional, Tondo, C., additional, Lorgat, F., additional, Natale, A., additional, Balta, O., additional, Buenz, K., additional, Paessler, M., additional, Anders, H., additional, Horlitz, M., additional, Deneke, T., additional, Lickfett, L., additional, Liberman, I., additional, Linhart, M., additional, Andrie, R., additional, Mittmann-Braun, E., additional, Stockigt, F., additional, Nickenig, G., additional, Schrickel, J., additional, Tilz, R., additional, Rillig, A., additional, Feige, B., additional, Metzner, A., additional, Fuernkranz, A., additional, Burchard, A., additional, Wissner, E., additional, Ouyang, F., additional, Betts, T. R., additional, Jones, M. A., additional, Wong, K. C. K., additional, Qureshi, N., additional, Bashir, Y., additional, Corbucci, G., additional, Losik, D., additional, Selina, V., additional, Crandall, M. A., additional, Daniels, C., additional, Daoud, E., additional, Kalbfleisch, S., additional, Yamaji, H., additional, Murakami, T., additional, Kawamura, H., additional, Murakami, M., additional, Hina, K., additional, Kusachi, S., additional, Dakos, G., additional, Vassilikos, V., additional, Paraskevaidis, S., additional, Mantziari, A., additional, Theophylogiannakos, S., additional, Chouvarda, I., additional, Chatzizisis, I., additional, Styliadis, I., additional, Kimura, T., additional, Fukumoto, K., additional, Nishiyama, N., additional, Aizawa, Y., additional, Fukuda, Y., additional, Sato, T., additional, Miyoshi, S., additional, Takatsuki, S., additional, Navarrete Casas, A. J., additional, Ali, I., additional, Conte, F. C., additional, Moran, M., additional, Graham, B. G., additional, Kalejs, O., additional, Lacis, R., additional, Stradins, P., additional, Koris, A., additional, Putnins, I., additional, Vikmane, M., additional, Lejnieks, A., additional, Erglis, A., additional, Estrada, A., additional, Perez Silva, A., additional, Castrejon, S., additional, Doiny, D., additional, Merino, J. L., additional, Baranchuk, A., additional, Greiss, I., additional, Simpson, C. S., additional, Abdollah, H., additional, Redfearn, D. P., additional, Buys-Topart, M., additional, Nitzsche, R., additional, Thibault, B., additional, Kathan, S., additional, Kolb, C., additional, Reif, S., additional, Schade, S., additional, Taggeselle, J., additional, Frey, A., additional, Birkenhagen, A., additional, Kohler, S., additional, Schmidt, M., additional, Cano Perez, O., additional, Buendia, F., additional, Igual, B., additional, Osca, J. M., additional, Sanchez, J. M., additional, Sancho-Tello, M. J., additional, Olague, J. M., additional, Salvador, A., additional, Tolosana, J. M., additional, Fernandez-Armenta, J., additional, Matas, M., additional, Barbarin, M. C., additional, Habibovic, M., additional, Van Den Broek, K. C., additional, Theuns, D. A. M. J., additional, Jordaens, L., additional, Alings, M., additional, Van Der Voort, P. H., additional, Pedersen, S. S., additional, Pupita, G., additional, Molini, S., additional, Brambatti, M., additional, Capucci, A., additional, Molodykh, S., additional, Idov, E. M., additional, Belyaev, O. V., additional, Segreti, L., additional, Soldati, E., additional, Zucchelli, G., additional, Di Cori, A., additional, Viani, S., additional, Paperini, L., additional, De Lucia, R., additional, Bongiorni, M. G., additional, Binner, L., additional, Taborsky, M., additional, Bello, D., additional, Heuer, H., additional, Ramza, B., additional, Jenniskens, I., additional, Johnson, W. B., additional, Silvetti, M. S., additional, Rava', L., additional, Russo, M. S., additional, Di Mambro, C., additional, Ammirati, A., additional, Gimigliano, G., additional, Prosperi, M., additional, Drago, F., additional, Santos, A. R., additional, Picarra, B., additional, Semedo, P., additional, Dionisio, P., additional, Matos, R., additional, Leitao, M., additional, Jacinto, A., additional, Trinca, M., additional, Mazzone, P., additional, Ciconte, G., additional, Marzi, A., additional, Paglino, G., additional, Vergara, P., additional, Sora, N., additional, Gulletta, S., additional, Della Bella, P., additional, Koppitz, P., additional, Fach, A., additional, Hobbiesiefken, S., additional, Fiehn, E., additional, Hambrecht, R., additional, Sperzel, J., additional, Jung, M., additional, Schmitt, J., additional, Pajitnev, D., additional, Burger, H., additional, Goebel, G., additional, Ehrlich, W., additional, Walther, T., additional, Ziegelhoeffer, T., additional, Vancura, V., additional, Wichterle, D., additional, Melenovsky, V., additional, Glikson, M., additional, Goldenberg, G., additional, Segev, A., additional, Dvir, D., additional, Kuzniec, J., additional, Finkelstein, A., additional, Hay, I., additional, Guetta, V., additional, Choo, W. K., additional, Gupta, S., additional, Kirkfeldt, R., additional, Johansen, J., additional, Nohr, E., additional, Moller, M., additional, Arnsbo, P., additional, Nielsen, J., additional, Banha, M., additional, Stojanov, P., additional, Raspopovic, S., additional, Vasic, D., additional, Savic, D., additional, Nikcevic, G., additional, Jovanovic, V., additional, Defaye, P., additional, Mondesert, B., additional, Mbaye, A., additional, Cassagneau, R., additional, Gagniere, V., additional, Jacon, J., additional, Sanfins, V., additional, Reis, H. R., additional, Nobre, J. N., additional, Martins, V. M., additional, Duarte, L. D., additional, Morais, C. M., additional, Conceicao, J. C., additional, Hero, M., additional, Rey, J. L., additional, Ducharme, A., additional, Simpson, C., additional, Stuglin, C., additional, Blier, L., additional, Senaratne, M., additional, Khaykin, Y., additional, Pinter, A., additional, Mlynarska, A., additional, Mlynarski, R., additional, Sosnowski, M., additional, Wilczek, J., additional, Iorgulescu, C., additional, Bogdan, S., additional, Constantinescu, D., additional, Caldararu, C., additional, Dorobantu, M., additional, Radu, A., additional, Vatasescu, R.- G., additional, Yusu, S., additional, Ikeda, T., additional, Mera, H., additional, Miwa, Y., additional, Abe, A., additional, Miyakoshi, M., additional, Tsukada, T., additional, Yoshino, H., additional, Nayar, V., additional, Cantelon, P., additional, Rawling, A., additional, Belham, M. R. D., additional, Pugh, P. J., additional, Osca Asensi, J., additional, Cano, O., additional, Tejada, D., additional, Munoz, B., additional, Rodriguez, M., additional, Olague, J., additional, Wecke, L., additional, Van Hunnik, A., additional, Thompson, T., additional, Di Carlo, L., additional, Zdeblick, M., additional, Auricchio, A., additional, Prinzen, F., additional, Doltra Magarolas, A., additional, Bijnens, B., additional, Silva, E., additional, Penela, D., additional, Sitges, M., additional, Ofman, P., additional, Navaravong, L., additional, Leng, J., additional, Peralta, A., additional, Hoffmeister, P., additional, Levine, R., additional, Cook, J., additional, Stoenescu, M., additional, Tettamanti, M. E., additional, Revilla Orodea, A., additional, Lopez Diaz, J., additional, De La Fuente Galan, L., additional, Arnold, R., additional, Garcia Moran, E., additional, San Roman Calvar, J. A., additional, Gomez Salvador, I., additional, Nakamura, K., additional, Takami, M., additional, Keida, T., additional, Mesato, A., additional, Higa, S., additional, Shimabukuro, M., additional, Masuzaki, H., additional, Proietti, R., additional, Sagone, A., additional, Domenichini, G., additional, Burri, H., additional, Valzania, C., additional, Biffi, M., additional, Sunthorn, H., additional, Gavaruzzi, G., additional, Foulkes, H., additional, Boriani, G., additional, Koh, S., additional, Hou, W., additional, Snell, J., additional, Poore, J., additional, Dalal, N., additional, Bornzin, G., additional, Kloppe, A., additional, Mijic, D., additional, Bogossian, H., additional, Ninios, I., additional, Zarse, M., additional, Lemke, B., additional, Guedon-Moreau, L., additional, Kouakam, C., additional, Klug, D., additional, Marquie, C., additional, Ziglio, F., additional, Kacet, S., additional, Mohamed Fereig Hamed, H., additional, Hamdy, A. M. A. L., additional, Abd El Aziz, A. H. M. E. D., additional, Nabih, M. R. V. A. T., additional, Hamdy, R. E. H. A. B., additional, Yaminisaharif, A., additional, Davoudi, G. H., additional, Kasemisaeid, A., additional, Sadeghian, S., additional, Vasheghani Farahani, A., additional, Yazdanifard, P., additional, Shafiee, A., additional, Alonso, C., additional, Grimard, C., additional, Jauvert, G., additional, Lazarus, A., additional, Mont, L. L., additional, Ortiz-Perez, J., additional, Caralt, T., additional, Escudero, J., additional, Perez, F., additional, Griffith, K. M., additional, Ferreyra, R., additional, Urena, P., additional, Demas, M., additional, Muratore, C., additional, Mazzetti, H., additional, Guardado, J., additional, Fernandes, M., additional, Pereira, V. H., additional, Canario-Almeida, F., additional, Ferreira, F., additional, Rodrigues, B., additional, Almeida, J., additional, Sokal, A., additional, Jedrzejczyk, E., additional, Lenarczyk, R., additional, Pluta, S., additional, Kowalski, O., additional, Pruszkowska, P., additional, Swiatkowski, A., additional, Kalarus, Z., additional, Heinke, M., additional, Ismer, B., additional, Kuehnert, H., additional, Heinke, T., additional, Surber, R., additional, Osypka, N., additional, Prochnau, D., additional, Figulla, H. R., additional, Iacopino, S., additional, Landolina, M., additional, Proclemer, A., additional, Padeletti, L., additional, Calvi, V., additional, Pierantozzi, A., additional, Di Stefano, P., additional, Bauer, A., additional, Bode, F., additional, Le Gal, F., additional, Deharo, J. C., additional, Delay, M., additional, Clementy, J., additional, Kawamura, M., additional, Munetsugu, Y., additional, Tanno, K., additional, Kobayashi, Y., additional, Cannom, D., additional, Hosoda, J., additional, Ishikawa, T., additional, Andoh, K., additional, Nobuyoshi, M., additional, Fujii, S., additional, Shizuta, S., additional, Isshiki, T., additional, Castel, M. A., additional, Perez-Villa, F., additional, Vidal, B., additional, Pruszkowska-Skrzep, P., additional, Szulik, M., additional, Kukulski, T., additional, Gianfranchi, L., additional, Bettiol, K., additional, Pacchioni, F., additional, Alboni, P., additional, Abu Sham'a, R., additional, Buber, J., additional, Nof, E., additional, Kuperstein, R., additional, Feinberg, M., additional, Luria, D., additional, Eldar, M., additional, Parks, K., additional, Stone, J. R., additional, Singh, J. P., additional, Hatzinikolaou-Kotsakou, E., additional, Kotsakou, M., additional, Beleveslis, T. H., additional, Moschos, G., additional, Reppas, E., additional, Latsios, P., additional, Tsakiridis, K., additional, Kazemisaeid, A., additional, Davoodi, G., additional, Yamini Sharif, A., additional, Sheikhvatan, M., additional, Toniolo, M., additional, Zanotto, G., additional, Rossi, A., additional, Tomasi, L., additional, Vassanelli, C., additional, Versteeg, H., additional, Mommersteeg, P. M. C., additional, Vergara, G., additional, Blauer, J., additional, Ranjan, R., additional, Vijayakumar, S., additional, Kholmovski, E., additional, Volland, N., additional, Macleod, R., additional, Aguinaga Arrascue, L. E., additional, Bravo, A., additional, Garcia Freire, P., additional, Gallardo, P., additional, Hasbani, E., additional, Dantur, J., additional, Quintana, R., additional, Adragao, P. P., additional, Cavaco, D., additional, Parreira, L., additional, Reis Santos, K., additional, Carmo, P., additional, Miranda, R., additional, Marcelino, S., additional, Cabrita, D., additional, Sommer, P., additional, Gaspar, T., additional, Rolf, S., additional, Arya, A., additional, Piorkowski, C., additional, Hindricks, G., additional, Valles Gras, E., additional, Bazan, V., additional, Portillo, L., additional, Suarez, F., additional, Bruguera, J., additional, Marti, J., additional, Huo, Y., additional, Richter, S., additional, Schoenbauer, R., additional, Rivas, N., additional, Casaldaliga, J., additional, Roca, I., additional, Dos, L., additional, Perez-Rodon, J., additional, Pijuan, A., additional, Garcia-Dorado, D., additional, Moya, A., additional, Carter, H. B., additional, Garg, A., additional, Hegrenes, J., additional, Sih, H. J., additional, Teplitsky, L. R., additional, Kuroki, K., additional, Tada, H., additional, Seo, Y., additional, Ishizu, T., additional, Igawa, M., additional, Sekiguchi, Y., additional, Kuga, K., additional, Aonuma, K., additional, Rodriguez A, C., additional, Mejias, J., additional, Hidalgo, P., additional, Hidalgo L, J. A., additional, Orczykowski, M., additional, Derejko, P., additional, Walczak, F., additional, Szufladowicz, E., additional, Urbanek, P., additional, Bodalski, R., additional, Bieganowska, K., additional, Szumowski, L., additional, Peichl, P., additional, Cihak, R., additional, Skalsky, I., additional, Kubus, P., additional, Vit, P., additional, Zaoral, L., additional, Gebauer, R. A., additional, Fiala, M., additional, Janousek, J., additional, Hiroshima, K., additional, Goya, M., additional, Ohe, M., additional, Hayashi, K., additional, Makihara, Y., additional, Nagashima, M., additional, An, Y., additional, Schloesser, M., additional, Lawrenz, T., additional, Meyer Zu Vilsendorf, D., additional, Strunk-Mueller, C., additional, Stellbrink, C., additional, Papagiannis, J., additional, Avramidis, D., additional, Kokkinakis, C., additional, Kirvassilis, G., additional, Eidelman, G., additional, Arenal, A., additional, Datino, T., additional, Atienza, F., additional, Gonzalez Torrecilla, E., additional, Miracle, A., additional, Hernandez, J., additional, Fernandez Aviles, F., additional, Ene, E., additional, Insulander, P., additional, Bastani, H., additional, Braunschweig, F., additional, Drca, N., additional, Kenneback, G., additional, Schwieler, J., additional, Tapanainen, J., additional, Jensen-Urstad, M., additional, Andrea, B., additional, Andrea, E. M. A., additional, Maciel, W. M., additional, Siqueira, L. S., additional, Cosenza, R. C., additional, Mittidieri, F. M., additional, Farah, S. F., additional, Atie, J. A., additional, Kanoupakis, E., additional, Kallergis, E., additional, Mavrakis, H., additional, Goudis, C., additional, Saloustros, I., additional, Malliaraki, N., additional, Chlouverakis, G., additional, Vardas, P., additional, Bonnes, J. L., additional, Jaspers Focks, J., additional, Westra, S. W., additional, Brouwer, M. A., additional, Smeets, J. L. R. M., additional, Inama, G., additional, Pedrinazzi, C., additional, Oliva, F., additional, Senni, M., additional, Zoni Berisso, M., additional, Mostov, S., additional, Haim, M., additional, Nevzorov, R., additional, Hasadi, D., additional, Starsberg, B., additional, Porter, A., additional, Kuschyk, J., additional, Schoene, A., additional, Streitner, F., additional, Veltmann, C. G., additional, Schimpf, R., additional, Borggrefe, M., additional, Luesebrink, U., additional, Gardiwal, A., additional, Oswald, H., additional, Koenig, T., additional, Duncker, D., additional, Klein, G., additional, Bastiaenen, R., additional, Batchvarov, V., additional, Atty, O., additional, Cheng, J. H., additional, Behr, E. R., additional, Gallagher, M. M., additional, Starrenburg, A. H., additional, Kraaier, K., additional, Scholten, M. F., additional, Van Der Palen, J., additional, Adhya, S., additional, Smith, L. A., additional, Zhao, T., additional, Bannister, C., additional, Kamdar, R. H., additional, Martinelli, M., additional, Siqueira, S., additional, Greco, R., additional, Nishioka, S. A. D., additional, Pedrosa, A. A. A., additional, Alkmim-Teixeira, R., additional, Peixoto, G. L., additional, Costa, R., additional, Nielsen, J. C., additional, Mortensen, P. T., additional, Johansen, J. B., additional, Kwasniewski, W., additional, Filipecki, A., additional, Urbanczyk-Swic, D., additional, Orszulak, W., additional, Trusz - Gluza, M., additional, Jimenez-Candil, J., additional, Morinigo, J., additional, Ledesma, C., additional, Martin-Luengo, C., additional, Vogtmann, T., additional, Gomer, M., additional, Stiller, S., additional, Kuehlkamp, V., additional, Zach, G., additional, Loescher, S., additional, Kespohl, S., additional, Baumann, G., additional, Snell, J. D., additional, Korsun, N., additional, Snell, J. R., additional, Morley, B., additional, Bharmi, R., additional, Nabutovsky, Y., additional, Mollerus, M., additional, Naslund, L., additional, Meyer, A., additional, Lipinski, M., additional, Libey, B., additional, Dornfeld, K., additional, Martin, A., additional, Gallego, M., additional, De Bie, M. K., additional, Van Rees, J. B., additional, Borleffs, C. J., additional, Thijssen, J., additional, Jukema, J. W., additional, Schalij, M. J., additional, Van Erven, L., additional, Van Der Velde, E. T., additional, Witteman, T. A., additional, Foeken, H., additional, Szili-Torok, T., additional, Akca, F., additional, Caliskan, K., additional, Ten Cate, F., additional, Michels, M., additional, Cozma, D. C., additional, Petrescu, L., additional, Mornos, C., additional, Dragulescu, S. I., additional, Groeneweg, J. A., additional, Velthuis, B. K., additional, Cox, M. G. P. J., additional, Loh, P., additional, Dooijes, D., additional, Cramer, M. J., additional, De Bakker, J. M. T., additional, Hauer, R. N. W., additional, Park, S. D., additional, Shin, S. H., additional, Woo, S. I., additional, Kwan, J., additional, Park, K. S., additional, Kim, D. H., additional, Iorio, A., additional, Vitali Serdoz, L., additional, Brun, F., additional, Daleffe, E., additional, Zecchin, M., additional, Dal Ferro, M., additional, Santangelo, S., additional, Sinagra, G. F., additional, Ouali, S., additional, Hammemi, R., additional, Hammas, S., additional, Kacem, S., additional, Gribaa, R., additional, Neffeti, E., additional, Remedi, F., additional, Boughzela, E., additional, Korantzopoulos, P., additional, Letsas, K., additional, Christogiannis, Z., additional, Kalantzi, K., additional, Ntorkos, A., additional, Goudevenos, J., additional, Foley, P. W. X., additional, Yung, L., additional, Barnes, E., additional, Kikuchi, M., additional, Ito, H., additional, Miyoshi, F., additional, Pecini, R., additional, Marott, J. M., additional, Jensen, G. B., additional, Theilade, J., additional, Mine, T., additional, Kodani, T., additional, Masuyama, T., additional, Mozos, I. M., additional, Serban, C., additional, Costea, C., additional, Susan, L., additional, Barthel, P., additional, Mueller, A., additional, Malik, M., additional, Schmidt, G., additional, Karakurt, O., additional, Kilic, H., additional, Munevver Sari, D. R., additional, Mroczek-Czernecka, D., additional, Pietrucha, A. Z., additional, Borowiec, A., additional, Wnuk, M., additional, Bzukala, I., additional, Kruszelnicka, O., additional, Konduracka, E., additional, Nessler, J., additional, Kikuchi, Y., additional, Meireles, A., additional, Gomes, C., additional, Anjo, D., additional, Roque, C., additional, Pinheiro Vieira, A., additional, Lagarto, V., additional, Hipolito Reis, A., additional, Torres, S., additional, Miller, L., additional, Vedrenne, G., additional, Bruguiere, E., additional, Redheuil, A., additional, Lavergne, T., additional, Le Heuzey, J. Y., additional, Mousseaux, E., additional, Hersi, A., additional, Alhabib, K., additional, Alfaleh, H., additional, Sulaiman, K., additional, Almahmeed, W., additional, Alsuwidi, J., additional, Amin, H., additional, Almotarreb, A., additional, Pang, H. W. K., additional, Michael, K., additional, Pereira, E. J., additional, Munt, P. W., additional, Fitzpatrick, M. F., additional, Revishvili, A. S., additional, Simonyan, G., additional, Dzhordzhikiya, T., additional, Sopov, O., additional, Kalinin, V., additional, Locati, E. T., additional, Vecchi, A. M., additional, Cattafi, G., additional, Sachero, A., additional, Lunati, M., additional, Sayah, S., additional, Alizadeh, A., additional, Nazari, N., additional, Hekmat, M., additional, Moradi, M., additional, Zeighami, M., additional, Ghanji, H., additional, Suzuki, K., additional, Takagi, M., additional, Maeda, K., additional, Tatsumi, H., additional, Vieira, P., additional, Reis, H., additional, Toth, A., additional, Vago, H., additional, Takacs, P., additional, Edes, E., additional, Marki, A., additional, Balazs, G. Y., additional, Huttl, K., additional, Merkely, B., additional, Lainis, F., additional, Buckley, M. M., additional, Johns, E. J., additional, Seifer, C. M., additional, Daba, L., additional, Liebrecht, K., additional, Piwowarska, W., additional, Toquero Ramos, J., additional, Perez Pereira, E., additional, Mitroi, C., additional, Castro Urda, V., additional, Fernandez Villanueva, J. M., additional, Corona Figueroa, A., additional, Hernandez Reina, L., additional, Fernandez Lozano, I., additional, Bartoletti, A., additional, Bocconcelli, P., additional, Giuli, S., additional, Massa, R., additional, Svetlich, C., additional, Tarsi, G., additional, Tronconi, F., additional, Vitale, E., additional, Stryjewski, P., additional, Wegrzynowska, M., additional, Lousinha, A., additional, Labandeiro, J., additional, Antunes, E., additional, Silva, S., additional, Alves, S., additional, Timoteo, A., additional, Oliveira, M., additional, Cruz Ferreira, R., additional, and Jedrzejczyk-Spaho, J., additional

Published
2011
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11. Role of Pharmacogenetics in Adverse Drug Reactions: An Update towards Personalized Medicine

Author

Emanuele Micaglio, Emanuela T. Locati, Michelle M. Monasky, Federico Romani, Francesca Heilbron, Carlo Pappone, Micaglio, E., Locati, E. T., Monasky, M. M., Romani, F., Heilbron, F., and Pappone, C.

Subjects
0301 basic medicine, medicine.medical_specialty, seizure, Long QT syndrome, adverse drug reaction, Review, RM1-950, 030204 cardiovascular system & hematology, 03 medical and health sciences, 0302 clinical medicine, long QT syndrome, medicine, Genetic predisposition, Pharmacology (medical), Aplastic anemia, proarrhythmia, Intensive care medicine, Brugada syndrome, Pharmacology, Proarrhythmia, diabetes, business.industry, personalized medicine, medicine.disease, 030104 developmental biology, genetic test, Therapeutics. Pharmacology, Personalized medicine, business, brugada syndrome, Pharmacogenetics, Adverse drug reaction
Abstract

Adverse drug reactions (ADRs) are an important and frequent cause of morbidity and mortality. ADR can be related to a variety of drugs, including anticonvulsants, anaesthetics, antibiotics, antiretroviral, anticancer, and antiarrhythmics, and can involve every organ or apparatus. The causes of ADRs are still poorly understood due to their clinical heterogeneity and complexity. In this scenario, genetic predisposition toward ADRs is an emerging issue, not only in anticancer chemotherapy, but also in many other fields of medicine, including hemolytic anemia due to glucose-6-phosphate dehydrogenase (G6PD) deficiency, aplastic anemia, porphyria, malignant hyperthermia, epidermal tissue necrosis (Lyell’s Syndrome and Stevens-Johnson Syndrome), epilepsy, thyroid diseases, diabetes, Long QT and Brugada Syndromes. The role of genetic mutations in the ADRs pathogenesis has been shown either for dose-dependent or for dose-independent reactions. In this review, we present an update of the genetic background of ADRs, with phenotypic manifestations involving blood, muscles, heart, thyroid, liver, and skin disorders. This review aims to illustrate the growing usefulness of genetics both to prevent ADRs and to optimize the safe therapeutic use of many common drugs. In this prospective, ADRs could become an untoward “stress test,” leading to new diagnosis of genetic-determined diseases. Thus, the wider use of pharmacogenetic testing in the work-up of ADRs will lead to new clinical diagnosis of previously unsuspected diseases and to improved safety and efficacy of therapies. Improving the genotype-phenotype correlation through new lab techniques and implementation of artificial intelligence in the future may lead to personalized medicine, able to predict ADR and consequently to choose the appropriate compound and dosage for each patient.

Published
2021
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12. Evaluating the Use of Genetics in Brugada Syndrome Risk Stratification

Author

Michelle M. Monasky, Emanuele Micaglio, Emanuela T. Locati, Carlo Pappone, Monasky, M. M., Micaglio, E., Locati, E. T., and Pappone, C.

Subjects
Genetic testing, Disease, Biology, Cardiovascular Medicine, arrhythmia, sudden cardiac death, Sudden cardiac death, genetic testing, Genotype, medicine, Diseases of the circulatory (Cardiovascular) system, Brugada syndrome, Variant, Exome, SCN5A, Genetics, medicine.diagnostic_test, Sodium channel, Inheritance (genetic algorithm), medicine.disease, variant, RC666-701, Mutation, Mutation (genetic algorithm), Perspective, mutation, Cardiology and Cardiovascular Medicine, Arrhythmia, sodium channel
Abstract

The evolution of the current dogma surrounding Brugada syndrome (BrS) has led to a significant debate about the real usefulness of genetic testing in this syndrome. Since BrS is defined by a particular electrocardiogram (ECG) pattern, after ruling out certain possible causes, this disease has come to be defined more for what it is not than for what it is. Extensive research is required to understand the effects of specific individual variants, including modifiers, rather than necessarily grouping together, for example, “all SCN5A variants” when trying to determine genotype-phenotype relationships, because not all variants within a particular gene act similarly. Genetic testing, including whole exome or whole genome testing, and family segregation analysis should always be performed when possible, as this is necessary to advance our understanding of the genetics of this condition. All considered, BrS should no longer be considered a pure autosomal dominant disorder, but an oligogenic condition. Less common patterns of inheritance, such as recessive, X–linked, or mitochondrial may exist. Genetic testing, in our opinion, should not be used for diagnostic purposes. However, variants in SCN5A can have a prognostic value. Patients should be diagnosed and treated per the current guidelines, after an arrhythmologic examination, based on the presence of the specific BrS ECG pattern. The genotype characterization should come in a second stage, particularly in order to guide the familial diagnostic work-up. In families in which an SCN5A pathogenic variant is found, genetic testing could possibly contribute to the prognostic risk stratification.

Published
2021

13. The omics of channelopathies and cardiomyopathies: What we know and how they are useful

Author

Carlo Pappone, Michelle M. Monasky, Emanuele Micaglio, Emanuela T. Locati, Pappone, C., Micaglio, E., Locati, E. T., and Monasky, M. M.

Subjects
Cardiomyopathy, Systems biology, Genomics, Disease, Computational biology, 030204 cardiovascular system & hematology, Proteomics, 03 medical and health sciences, 0302 clinical medicine, Channelopathy, medicine, Genetics, AcademicSubjects/MED00200, Brugada syndrome, 030304 developmental biology, Epigenomics, 0303 health sciences, business.industry, Articles, medicine.disease, Omics, Sudden cardiac death, Channelopathies, Cardiology and Cardiovascular Medicine, business
Abstract

Sudden cardiac death results from arrhythmias commonly caused by channelopathies and cardiomyopathies, often due to several genetic factors. An emerging concept is that these disease states may in fact overlap, with variants in traditionally classified ‘cardiomyopathy genes’ resulting in ‘channelopathies phenotypes’. Another important concept is the influence of both genetic and non-genetic factors in disease expression, leading to the utilization of systems biology approaches, such as genomics/epigenomics, transcriptomics, proteomics, metabolomics, lipidomics, and glycomics, to understand the disease severity and progression and to determine the prognosis and the best course of treatment. In fact, our group has discovered significant differences in metabolites, proteins, and lipids between controls and Brugada syndrome patients. Omics approaches are useful in overcoming the dogma that both channelopathies and cardiomyopathies exist as Mendelian disorders (caused by a mutation in a single gene). This shift in understanding could lead to new diagnostic and therapeutic approaches.

Published
2021

14. Novel CineECG Derived From Standard 12-Lead ECG Enables Right Ventricle Outflow Tract Localization of Electrical Substrate in Patients With Brugada Syndrome

Author

Emanuela T Locati, Luigi Anastasia, Žarko Ćalović, Giuseppe Ciconte, Peter M van Dam, Valeria Borrelli, Valerio Mecarocci, Michelle M. Monasky, Gabriele Vicedomini, Vincenzo Santinelli, Luigi Giannelli, Francesca Heilbron, Carlo Pappone, Emanuele Micaglio, Van Dam, P. M., Locati, E. T., Ciconte, G., Borrelli, V., Heilbron, F., Santinelli, V., Vicedomini, G., Monasky, M. M., Micaglio, E., Giannelli, L., Mecarocci, V., Calovic, Z., Anastasia, L., and Pappone, C.

Subjects
Adult, Male, medicine.medical_specialty, Heart Ventricles, Bundle-Branch Block, Vectorcardiography, 12 lead ecg, Action Potentials, electrocardiogram, 030204 cardiovascular system & hematology, sudden cardiac death, Sudden cardiac death, Electrocardiography, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Heart Rate, Predictive Value of Tests, Physiology (medical), Internal medicine, bundle branch block, medicine, Humans, Brugada syndrome, In patient, Registries, 030212 general & internal medicine, ajmaline, Right ventricle outflow tract, Brugada Syndrome, medicine.diagnostic_test, Bundle branch block, business.industry, Signal Processing, Computer-Assisted, vectorcardiography, Middle Aged, medicine.disease, Ajmaline, Case-Control Studies, Cardiology, Female, Cardiology and Cardiovascular Medicine, business, Algorithms, medicine.drug
Abstract

Background: In Brugada syndrome (BrS), diagnosed in presence of a spontaneous or ajmaline-induced type-1 pattern, ventricular arrhythmias originate from the right ventricle outflow tract (RVOT). We developed a novel CineECG method, obtained by inverse electrocardiogram (ECG) from standard 12-lead ECG, to localize the electrical activity pathway in patients with BrS. Methods: The CineECG enabled the temporospatial localization of the ECG waveforms, deriving the mean temporospatial isochrone from standard 12-lead ECG. The study sample included (1) 15 patients with spontaneous type-1 Brugada pattern, and (2) 18 patients with ajmaline-induced BrS (at baseline and after ajmaline), in whom epicardial potential duration maps were available; (3) 17 type-3 BrS pattern patients not showing type-1 BrS pattern after ajmaline (ajmaline-negative); (4) 47 normal subjects; (5) 18 patients with right bundle branch block (RBBB). According to CineECG algorithm, each ECG was classified as Normal, Brugada, RBBB, or Undetermined. Results: In patients with spontaneous or ajmaline-induced BrS, CineECG localized the terminal mean temporospatial isochrone forces in the RVOT, congruent with the arrhythmogenic substrate location detected by epicardial potential duration maps. The RVOT location was never observed in normal, RBBB, or ajmaline-negative patients. In most patients with ajmaline-induced BrS (78%), the RVOT location was already evident at baseline. The CineECG classified all normal subjects and ajmaline-negative patients at baseline as Normal or Undetermined, all patients with RBBB as RBBB, whereas all patients with spontaneous and ajmaline-induced BrS as Brugada. Compared with standard 12-lead ECG, CineECG at baseline had a 100% positive predictive value and 81% negative predictive value in predicting ajmaline test results. Conclusions: In patients with spontaneous and ajmaline-induced BrS, the CineECG localized the late QRS activity in the RVOT, a phenomenon never observed in normal, RBBB, or ajmaline-negative patients. The possibility to identify the RVOT as the location of the arrhythmogenic substrate by the noninvasive CineECG, based on the standard 12-lead ECG, opens new prospective for diagnosing patients with BrS.

Published
2020
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15. Novel SCN5A p.V1429M Variant Segregation in a Family with Brugada Syndrome

Author

Carlo Pappone, Emanuela T Locati, Luigi Anastasia, Giorgio Casari, Giuseppe Ciconte, Chiara Di Resta, Sara Benedetti, Gabriele Vicedomini, Emanuele Micaglio, Andrea Ghiroldi, Luigi Giannelli, Michelle M. Monasky, Valeria Borrelli, Monasky, M. M., Micaglio, E., Ciconte, G., Borrelli, V., Giannelli, L., Vicedomini, G., Ghiroldi, A., Anastasia, L., Locati, E. T., Benedetti, S., Di Resta, C., Casari, G., and Pappone, C.

Subjects
0301 basic medicine, Genetic testing, family, Case Report, 030204 cardiovascular system & hematology, medicine.disease_cause, Sudden cardiac death, lcsh:Chemistry, 0302 clinical medicine, Channelopathy, Variant, lcsh:QH301-705.5, Spectroscopy, SCN5A, Brugada syndrome, Genetics, Mutation, medicine.diagnostic_test, Sodium channel, General Medicine, Computer Science Applications, Medical genetics, Arrhythmia, Human, sodium channel, medicine.medical_specialty, Disease Association, Biology, arrhythmia, Catalysis, sudden cardiac death, genetic testing, Inorganic Chemistry, 03 medical and health sciences, channelopathy, medicine, Family, human, Physical and Theoretical Chemistry, Molecular Biology, Gene, Organic Chemistry, fungi, medicine.disease, 030104 developmental biology, lcsh:Biology (General), lcsh:QD1-999, variant, mutation
Abstract

Brugada syndrome (BrS) is diagnosed by the presence of an elevated ST-segment and can result in sudden cardiac death. The most commonly found mutated gene is SCN5A, which some argue is the only gene that has been definitively confirmed to cause BrS, while the potential causative effect of other genes is still under debate. While the issue of BrS genetics is currently a hot topic, current knowledge is not able to result in molecular confirmation of over half of BrS cases. Therefore, it is difficult to develop research models with wide potential. Instead, the clinical genetics first need to be better understood. In this study, we provide crucial human data on the novel heterozygous variant NM_198056.2:c.4285G>A (p.Val1429Met) in the SCN5A gene, and demonstrate its segregation with BrS, suggesting a pathogenic effect. These results provide the first disease association with this variant and are crucial clinical data to communicate to basic scientists, who could perform functional studies to better understand the molecular effects of this clinically-relevant variant in BrS.

Published
2020

16. Assessing QT interval in COVID-19 patients:safety of hydroxychloroquine-azithromycin combination regimen

Author

Massimiliano M. Marrocco-Trischitta, Valerio Mecarocci, Ewa Witkowska, Andrea Bernardini, Carlo Pappone, Francesca Santini, Serenella Castelvecchio, Roberto Rondine, Emanuela T. Locati, Gabriele Vicedomini, Carlo de Innocentiis, Lorenzo Menicanti, Giuseppe Ciconte, Gabriele Negro, Tommaso Viva, Luigi Giannelli, Bernardini, A., Ciconte, G., Negro, G., Rondine, R., Mecarocci, V., Viva, T., Santini, F., de Innocentiis, C., Giannelli, L., Witkowska, E., Locati, E. T., Castelvecchio, S., Marrocco-Trischitta, M. M., Vicedomini, G., Menicanti, L., and Pappone, C.

Subjects
QT interval, Male, medicine.medical_specialty, Coronavirus disease 2019 (COVID-19), Combination therapy, Population, 030204 cardiovascular system & hematology, Azithromycin, Article, 03 medical and health sciences, Antimalarials, Electrocardiography, 0302 clinical medicine, Age, Internal medicine, medicine, Humans, 030212 general & internal medicine, education, Aged, Retrospective Studies, Aged, 80 and over, education.field_of_study, business.industry, ECG, COVID-19, Retrospective cohort study, Hydroxychloroquine, Middle Aged, Anti-Bacterial Agents, Regimen, Long QT Syndrome, Drug Therapy, Combination, Female, Patient Safety, business, Cardiology and Cardiovascular Medicine, medicine.drug, Follow-Up Studies
Abstract

Background Hydroxychloroquine (HCQ) and azithromycin (AZT) have been proposed for COVID-19 treatment. Data available in the literature reported a potential increased risk of fatal arrhythmias under these therapies. The aim of this study was to assess the effects of these drugs on QT interval and outcome in a COVID-19 population. Methods A total of 112 consecutive COVID-19 patients were included in this analysis and were divided in 3 groups according to the receiving therapeutic regimens: 19 (17%) patients in Group 1 (no treatment), 40 (36%) in Group 2 (HCQ only), 53 (47%) in Group 3 (HCQ/AZT). Results A prolonged QTc interval was found in 61% of patients treated with HCQ alone or in combination with AZT, but only 4 (4%) patients showed a QTc > 500 ms. HCQ/AZT combination determined a greater increase of QTc duration compared to the other two strategies (Group 3452 ± 26.4 vs Group 2436.3 ± 28.4 vs Group 1424.4 ± 24.3 ms, respectively; p, Highlights • Only the use of HCQ in combination with AZT causes a significant increase of QT interval. • Older patients are at higher risk of prolonged QT when treated with HCQ with/without AZT. • The use of HCQ alone or in combination with AZT might be considered as safe relating to arrhythmic risk in the treatment of COVID-19 patients.

Published
2020

17. Novel SCN5A p.W697X Nonsense Mutation Segregation in a Family with Brugada Syndrome

Author

Giuseppe Ciconte, Emanuela T Locati, Luigi Giannelli, Nicoletta Resta, Luigi Anastasia, Valeria Borrelli, Michelle M. Monasky, Gabriele Vicedomini, Andrea Ghiroldi, Chiara Di Resta, Rosanna Bagnulo, Sara Benedetti, Maurizio Ferrari, Carlo Pappone, Emanuele Micaglio, Micaglio, E, Monasky, M M, Resta, N, Bagnulo, R, Ciconte, G, Gianelli, L, Locati, E T, Vicedomini, G, Borrelli, V, Ghiroldi, A, Anastasia, L, Benedetti, S, Di Resta, C, Ferrari, M, and Pappone, C

Subjects
0301 basic medicine, Male, Genetic testing, family, Case Report, 030204 cardiovascular system & hematology, Sudden cardiac death, NAV1.5 Voltage-Gated Sodium Channel, lcsh:Chemistry, 0302 clinical medicine, Channelopathy, lcsh:QH301-705.5, Spectroscopy, SCN5A, Brugada syndrome, Genetics, medicine.diagnostic_test, Sodium channel, scn5a, General Medicine, Middle Aged, Computer Science Applications, Pedigree, Codon, Nonsense, Mutation (genetic algorithm), Female, Arrhythmia, point-nonsense mutation, Human, sodium channel, Adult, Nonsense mutation, Biology, arrhythmia, Catalysis, sudden cardiac death, genetic testing, Inorganic Chemistry, 03 medical and health sciences, channelopathy, medicine, Family, Functional studies, Physical and Theoretical Chemistry, Molecular Biology, Gene, Organic Chemistry, fungi, Point-nonsense mutation, medicine.disease, 030104 developmental biology, lcsh:Biology (General), lcsh:QD1-999, Mutation, mutation, brugada syndrome
Abstract

Brugada syndrome (BrS) is marked by an elevated ST-segment elevation and increased risk of sudden cardiac death. Variants in the SCN5A gene are considered to be molecular confirmation of the syndrome in about one third of cases, while the genetics remain a mystery in about half of the cases, with the remaining cases being attributed to variants in any of a number of genes. Before research models can be developed, it is imperative to understand the genetics in patients. Even data from humans is complicated, since variants in the most common gene in BrS, SCN5A, are associated with a number of pathologies, or could even be considered benign, depending on the variant. Here, we provide crucial human data on a novel NM_198056.2:c.2091G>A (p.Trp697X) point-nonsense heterozygous variant in the SCN5A gene, as well as its segregation with BrS. The results herein suggest a pathogenic effect of this variant. These results could be used as a stepping stone for functional studies to better understand the molecular effects of this variant in BrS.

Published
2019

18. Arrhythmias due to Inherited and Acquired Abnormalities of Ventricular Repolarization

Author

Maurizio Lunati, Giuseppe Bagliani, Helou Johny, Carlo Pappone, Emanuela T. Locati, Franco Cecchi, Locati, E. T., Bagliani, G., Cecchi, F., Johny, H., Lunati, M., and Pappone, C.

Subjects
QT interval, Short QT Syndrome, medicine.medical_specialty, Benign early repolarization, Long QT syndrome, Torsades de pointes, 030204 cardiovascular system & hematology, Ventricular tachycardia, Sudden death, 03 medical and health sciences, Electrocardiography, 0302 clinical medicine, T-wave alternan, Physiology (medical), Internal medicine, Medicine, Humans, cardiovascular diseases, 030212 general & internal medicine, business.industry, Short QT syndrome, Arrhythmias, Cardiac, medicine.disease, Ventricular repolarization, Ventricular fibrillation, Ventricular Fibrillation, cardiovascular system, Cardiology, Ventricular arrhythmia, Cardiology and Cardiovascular Medicine, business, Human
Abstract

Several acquired and congenital disease conditions and many cardiac and noncardiac drugs affect ventricular repolarization and increase susceptibility to ventricular arrhythmias. Abnormal ventricular repolarization can be reflected on the surface ECG by prolonged or shortened QT interval, early repolarization, and abnormal T-wave configuration. Reduced outward K+ currents and abnormal or increased sodium or calcium currents increase the vulnerability to ventricular arrhythmias. Multiple mechanisms give rise to ventricular arrhythmias in conditions of congenital or acquired abnormal ventricular repolarization. Ventricular arrhythmias associated with abnormalities of ventricular repolarization typically are rapid, usually polymorphic, ventricular tachycardia or torsades de pointes, often degenerating into ventricular fibrillation.

Published
2019

19. Clinical Considerations for a Family with Dilated Cardiomyopathy, Sudden Cardiac Death, and a Novel TTN Frameshift Mutation

Author

Michelle M. Monasky, Marco Piccoli, Giuseppe Ciconte, Andrea Bernardini, Carlo Pappone, Emanuele Micaglio, Valerio Mecarocci, Luigi Anastasia, Andrea Ghiroldi, Emanuela T Locati, Valeria Borrelli, Micaglio, E., Monasky, M. M., Bernardini, A., Mecarocci, V., Borrelli, V., Ciconte, G., Locati, E. T., Piccoli, M., Ghiroldi, A., Anastasia, L., and Pappone, C.

Subjects
Male, family, Genetic testing, Titin, DNA Mutational Analysis, Dilated cardiomyopathy, Case Report, 030204 cardiovascular system & hematology, medicine.disease_cause, Sudden cardiac death, lcsh:Chemistry, Electrocardiography, 0302 clinical medicine, Connectin, deletion, humans, Frameshift Mutation, lcsh:QH301-705.5, Spectroscopy, Genetics, Mutation, medicine.diagnostic_test, biology, General Medicine, Middle Aged, Computer Science Applications, Heart Function Tests, Female, Cardiomyopathy, Dilated, Diagnostic Imaging, TTN, Sudden death, sudden cardiac death, Catalysis, genetic testing, Frameshift mutation, Deletion, Inorganic Chemistry, 03 medical and health sciences, medicine, Humans, titin, Family, Genetic Predisposition to Disease, Physical and Theoretical Chemistry, Molecular Biology, Gene, Genetic Association Studies, business.industry, Organic Chemistry, medicine.disease, Truncating, dilated cardiomyopathy, Death, Sudden, Cardiac, lcsh:Biology (General), lcsh:QD1-999, biology.protein, mutation, truncating, business, Biomarkers, 030217 neurology & neurosurgery
Abstract

Dilated cardiomyopathy (DCM) is the leading indication for heart transplantation. TTN gene truncating mutations account for about 25% of familial DCM cases and for 18% of sporadic DCM cases. The clinical relevance of specific variants in TTN has been difficult to determine because of the sheer size of the protein for which TTN encodes, as well as existing extensive genetic variation. Clinicians should communicate novel clinically-relevant variants and genotype–phenotype associations, so that animal studies evaluating the molecular mechanisms are always conducted with a focus on clinical significance. In the present study, we report for the first time the novel truncating heterozygous variant NM_001256850.1:c.72777_72783del (p.Phe24259Leufs*51) in the TTN gene and its association with DCM in a family with sudden death. This variant occurs in the A-band region of the sarcomere, in a known mutational hotspot of the gene. Truncating titin variants that occur in this region are the most common cause of DCM and have been rarely reported in asymptomatic individuals, differently from other pathogenic TTN gene variants. Further studies are warranted to better understand this particular clinically-relevant variant.

Published
2021
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20. Novel JAG1 Deletion Variant in Patient with Atypical Alagille Syndrome

Author

Emanuela T Locati, Silvia Presi, Paola Carrera, Mario Carminati, Michelle M. Monasky, Barbara Pirola, Emanuele Micaglio, Alessandro Giamberti, Maurizio Ferrari, Andreea Alina Andronache, Carlo Pappone, Micaglio, E., Andronache, A. A., Carrera, P., Monasky, M. M., Locati, E. T., Pirola, B., Presi, S., Carminati, M., Ferrari, M., Giamberti, A., and Pappone, C.

Subjects
Male, 0301 basic medicine, Pathology, Genetic testing, Heart disease, Case Report, 030105 genetics & heredity, neural tube defect, jaundice, Electrocardiography, Ductus arteriosus, Alagille syndrome, Variant, Pulmonary branche, Spectroscopy, Neural tube defect, Heart, General Medicine, Hypoplasia, Pedigree, Computer Science Applications, medicine.anatomical_structure, Liver, Cholestasi, Female, bilirubin, Pulmonary atresia, Cardiac, JAG1, Human, medicine.medical_specialty, cardiac, Jaundice, heart, Pulmonary Artery, liver, Catalysis, genetic testing, Inorganic Chemistry, 03 medical and health sciences, medicine, Physical and Theoretical Chemistry, Craniofacial, Molecular Biology, hypoplasia, Cyanosi, Base Sequence, business.industry, cyanosis, Organic Chemistry, Infant, Newborn, Bilirubin, medicine.disease, 030104 developmental biology, variant, pulmonary branches, Mutation, mutation, cholestasis, business, Jagged-1 Protein, Gene Deletion
Abstract

Alagille syndrome (AGS) is an autosomal-dominant disorder characterized by various degrees of abnormalities in the liver, heart, eyes, vertebrae, kidneys, face, vasculature, skeleton, and pancreas. This case report describes a newborn child exhibiting a congenital neural tube defect and peculiar craniofacial appearance characterized by a prominent forehead, deep-set eyes, bulbous nasal tip, and subtle upper lip. Just a few hours after birth, congenital heart disease was suspected for cyanosis and confirmed by heart evaluation. In particular, echocardiography indicated pulmonary atresia with ventricular septal defect with severe hypoplasia of the pulmonary branches (1.5 mm), large patent ductus arteriosus and several major aortopulmonary collateral arteries. Due to the association of peculiar craniofacial appearance and congenital heart disease, a form of Alagille syndrome was suspected. In addition, on the fifth day after birth, the patient developed jaundice, had acholic stools, and high levels of conjugated bilirubin and gamma-glutamyltransferase (GGT) were detected in the blood. Genetic testing revealed the novel variant c.802del in a single copy of the JAG1 gene. No variants in the NOTCH2 gene were detected. To the best of our knowledge, this is the first clinical description of a congenital neural tube defect in a molecularly confirmed Alagille patient. This work demonstrates a novel pathogenic heterozygous JAG1 mutation is associated with an atypical form of Alagille syndrome, suggesting an increased risk for neural tube defects compared to other Alagille patients.

Published
2019
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21. External prolonged electrocardiogram monitoring in unexplained syncope and palpitations: results of the SYNARR-Flash study.

Author

Locati ET, Moya A, Oliveira M, Tanner H, Willems R, Lunati M, and Brignole M

Subjects
Adult, Aged, Aged, 80 and over, Europe, Female, Humans, International Cooperation, Male, Middle Aged, Multivariate Analysis, Prospective Studies, Survival Analysis, Arrhythmias, Cardiac diagnosis, Electrocardiography, Ambulatory, Syncope diagnosis
Abstract

Aims: SYNARR-Flash study (Monitoring of SYNcopes and/or sustained palpitations of suspected ARRhythmic origin) is an international, multicentre, observational, prospective trial designed to evaluate the role of external 4-week electrocardiogram (ECG) monitoring in clinical work-up of unexplained syncope and/or sustained palpitations of suspected arrhythmic origin., Methods and Results: Consecutive patients were enrolled within 1 month after unexplained syncope or palpitations (index event) after being discharged from emergency room or hospitalization without a conclusive diagnosis. A 4-week ECG monitoring was obtained by external high-capacity loop recorder (SpiderFlash-T(®), Sorin) storing patient-activated and auto-triggered tracings. Diagnostic monitorings included (i) conclusive events with reoccurrence of syncope or palpitation with concomitant ECG recording (with/without arrhythmias) and (ii) events with asymptomatic predefined significant arrhythmias (sustained supraventricular or ventricular tachycardia, advanced atrio-ventricular block, sinus bradycardia <30 b.p.m., pauses >6 s). SYNARR-Flash study enrolled 395 patients (57.7% females, 56.9 ± 18.7 years, 28.1% with syncope, and 71.9% with palpitations) from 10 European centres. For syncope, the 4-week diagnostic yield was 24.5%, and predictors of diagnostic events were early start of recording (0-15 vs. >15 days after index event) (OR 6.2, 95% CI 1.3-29.6, P = 0.021) and previous history of supraventricular arrhythmias (OR 3.6, 95% CI 1.4-9.7, P = 0.018). For palpitations, the 4-week diagnostic yield was 71.6% and predictors of diagnostic events were history of recurrent palpitations (P < 0.001) and early start of recording (P = 0.001)., Conclusion: The 4-week external ECG monitoring can be considered as first-line tool in the diagnostic work-up of syncope and palpitation. Early recorder use, history of supraventricular arrhythmia, and frequent previous events increased the likelihood of diagnostic events during the 4-week external ECG monitoring., (© The Author 2015. Published by Oxford University Press on behalf of the European Society of Cardiology.)

Published
2016
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