19 results on '"Miszalski-Jamka K"'
Search Results
2. The value of regional myocardial function assessment in patients with acute myocarditis at baseline and mid term follow-up
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Boidol, J, primary, Koziel, M, additional, Miszalski-Jamka, K, additional, Klys, J, additional, Kalarus, Z, additional, and Kukulski, T, additional
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- 2020
- Full Text
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3. These abstracts have been selected for VIEWING only as ePosters and in print. ePosters will be available on Screen A & B throughout the meeting, Print Posters at the times indicated below. Please refer to the PROGRAM for more details.
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Secchi, F., primary, Cannao, P., additional, Pluchinotta, F., additional, Butera, G., additional, Carminati, M., additional, Sardanelli, F., additional, Lombardi, M., additional, Monney, P., additional, Piccini, D., additional, Rutz, T., additional, Vincenti, G., additional, Coppo, S., additional, Koestner, S., additional, Stuber, M., additional, Schwitter, J., additional, Romana, P., additional, Francesco, S., additional, Gianfranco, B., additional, Mario, C., additional, Massimo, L., additional, Alizadeh Sani, Z., additional, Vojdan-Parast, M., additional, Alimohammadi, M., additional, Sarafan-Sadeghi, S., additional, Seifi, A., additional, Fallahabadi, H., additional, Karami Tanha, F., additional, Jamshidi, M., additional, Hesamy, M., additional, Bonello, B., additional, Sorensen, C., additional, Fouilloux, V., additional, Gorincour, G., additional, Mace, L., additional, Fraisse, A., additional, Jacquier, A., additional, de Meester, C., additional, Amzulescu, M., additional, Bouzin, C., additional, Boileau, L., additional, Melchior, J., additional, Boulif, J., additional, Lazam, S., additional, Pasquet, A., additional, Vancrayenest, D., additional, Vanoverschelde, J., additional, Gerber, B., additional, Loudon, M., additional, Bull, S., additional, Bissell, M., additional, Joseph, J., additional, Neubauer, S., additional, Myerson, S., additional, Dorniak, K., additional, Hellmann, M., additional, Rawicz-Zegrzda, D., additional, W sierska, M., additional, Sabisz, A., additional, Szurowska, E., additional, Heiberg, E., additional, Dudziak, M., additional, Kwok, T., additional, Chin, C., additional, Dweck, M., additional, Hadamitzky, M., additional, Nadjiri, J., additional, Hendrich, E., additional, Pankalla, C., additional, Will, A., additional, Schunkert, H., additional, Martinoff, S., additional, Sonne, C., additional, Pepe, A., additional, Meloni, A., additional, Terrazzino, F., additional, Spasiano, A., additional, Filosa, A., additional, Bitti, P., additional, Tangari, C., additional, Restaino, G., additional, Resta, M., additional, Ricchi, P., additional, Tudisca, C., additional, Grassedonio, E., additional, Positano, V., additional, Piraino, B., additional, Romano, N., additional, Keilberg, P., additional, Midiri, M., additional, Macchi, S., additional, Ambrosio, D., additional, De Marchi, D., additional, Chiodi, E., additional, Salvatori, C., additional, Artang, R., additional, Bogachkov, A., additional, Botelho, M., additional, Bou-Ayache, J., additional, Vazquez, M., additional, Carr, J., additional, Collins, J., additional, Maret, E., additional, Ahlander, B., additional, Bjorklund, P., additional, Engvall, J., additional, Cimermancic, R., additional, Inage, A., additional, Mizuno, N., additional, Santarelli, M., additional, Izzi, G., additional, Maddaloni, D., additional, Landini, L., additional, Carulli, G., additional, Oliva, E., additional, Arcioni, F., additional, Fraticelli, V., additional, Toia, P., additional, Renne, S., additional, Rizzo, M., additional, Reinstadler, S., additional, Klug, G., additional, Feistritzer, H., additional, Aschauer, A., additional, Schocke, M., additional, Franz, W., additional, Metzler, B., additional, Melonil, A., additional, Positanol, V., additional, Roccamo, G., additional, Argento, C., additional, Benni, M., additional, De Marchil, D., additional, Missere, M., additional, Prezios, P., additional, Salvatoril, C., additional, Pepel, A., additional, Rossi, G., additional, Cirotto, C., additional, Filati, G., additional, Preziosi, P., additional, Mongeon, F., additional, Fischer, K., additional, Teixeira, T., additional, Friedrich, M., additional, Marcotte, F., additional, Zenge, M., additional, Schmidt, M., additional, Nadar, M., additional, Chevre, P., additional, Rohner, C., additional, Mouratoglou, S., additional, Kallifatidis, A., additional, Giannakoulas, G., additional, Grapsa, J., additional, Kamperidis, V., additional, Pitsiou, G., additional, Stanopoulos, I., additional, Hadjimiltiades, S., additional, Karvounis, H., additional, Ahmed, N., additional, Lawton, C., additional, Ghosh Dastidar, A., additional, Frontera, A., additional, Jackson, A., additional, Cripps, T., additional, Diab, I., additional, Duncan, E., additional, Thomas, G., additional, Bucciarelli-Ducci, C., additional, Kannoly, S., additional, Gosling, O., additional, Ninan, T., additional, Fulford, J., additional, Dalrymple-Haym, M., additional, Shore, A., additional, Bellenger, N., additional, Alegret, J., additional, Beltran, R., additional, Martin, M., additional, Mendoza, M., additional, Elisabetta, C., additional, Teresa, C., additional, Zairo, F., additional, Marcello, N., additional, Clorinda, M., additional, Bruna, M., additional, Vincenzo, P., additional, Alessia, P., additional, Giorgio, B., additional, Mair, J., additional, Kremser, C., additional, Aschauer, S., additional, Tufaro, C., additional, Kammerlander, A., additional, Pfaffenberger, S., additional, Marzluf, B., additional, Bonderman, D., additional, Mascherbauer, J., additional, Kliegel, A., additional, Sailer, A., additional, Brustbauer, R., additional, Sedivy, R., additional, Mayr, H., additional, Manessi, M., additional, Castelvecchio, S., additional, Votta, E., additional, Stevanella, M., additional, Menicanti, L., additional, Secchi, F., additional, Redaelli, A., additional, Reiter, U., additional, Reiter, G., additional, Kovacs, G., additional, Greiser, A., additional, Olschewski, H., additional, Fuchsjager, M., additional, Babayev, J., additional, Mlynarski, R., additional, Mlynarska, A., additional, Sosnowski, M., additional, Pontone, G., additional, Bertella, E., additional, Petulla, M., additional, Russo, E., additional, Innocenti, E., additional, Baggiano, A., additional, Mushtaq, S., additional, Gripari, P., additional, Andreini, D., additional, Tondo, C., additional, Nyktari, E., additional, Izgi, C., additional, Haidar, S., additional, Wage, R., additional, Keegan, J., additional, Wong, T., additional, Mohiaddin, R., additional, Durante, A., additional, Rimoldi, O., additional, Laforgia, P., additional, Gianni, U., additional, Benedetti, G., additional, Cava, M., additional, Damascelli, A., additional, Laricchia, A., additional, Ancona, M., additional, Aurelio, A., additional, Pizzetti, G., additional, Esposito, A., additional, Margonato, A., additional, Colombo, A., additional, De Cobelli, F., additional, Camici, P., additional, Zvaigzne, L., additional, Sergejenko, S., additional, Kal js, O., additional, Ripley, D., additional, Swarbrick, D., additional, Hossain, E., additional, Chawner, R., additional, Moore, J., additional, Aquaro, G., additional, Barison, A., additional, Masci, P., additional, Todiere, G., additional, Strata, E., additional, Di Bella, G., additional, Monasterio, F., additional, Levelt, E., additional, Mahmod, M., additional, Ntusi, N., additional, Ariga, R., additional, Upton, R., additional, Piechnick, S., additional, Francis, J., additional, Schneider, J., additional, Stoll, V., additional, Davis, A., additional, Karamitsos, T., additional, Leeson, P., additional, Holloway, C., additional, Clarke, K., additional, Karwat, K., additional, Tomala, M., additional, Miszalski-Jamka, K., additional, Mrozi ska, S., additional, Kowalczyk, M., additional, Mazur, W., additional, Kereiakes, D., additional, Nessler, J., additional, Zmudka, K., additional, Ja wiec, P., additional, Miszalski-Jamka, T., additional, Ben Yaacoub-Kzadri, I., additional, Harguem, S., additional, Bennaceur, R., additional, Ganzoui, I., additional, Ben Miled, A., additional, Mnif, N., additional, Rodriguez Palomares, J., additional, Ortiz, J., additional, Tejedor, P., additional, Lee, D., additional, Wu, E., additional, Bonow, R., additional, Khanji, M., additional, Castiello, T., additional, Westwood, M., additional, Petersen, S., additional, Storti, S., additional, Quota, A., additional, Smacchia, M., additional, Paci, C., additional, Vallone, A., additional, Valeri, G., additional, keilberg, P., additional, Gargani, L., additional, Guiducci, S., additional, Pugliese, N., additional, Pingitore, A., additional, Cole, B., additional, Douglas, H., additional, Rodden, S., additional, Horan, P., additional, Harbinson, M., additional, Johnston, N., additional, Dixon, L., additional, Choudhary, P., additional, Hsu, C., additional, Grieve, S., additional, Semsarian, C., additional, Richmond, D., additional, Celermajer, D., additional, Puranik, R., additional, Hinojar Baydes, R., additional, Varma, N., additional, Goodman, B., additional, Khan, S., additional, Arroyo Ucar, E., additional, Dabir, D., additional, Schaeffter, T., additional, Nagel, E., additional, Puntmann, V., additional, Hinojar, R., additional, Ucar, E., additional, Ngah, N., additional, Kuo, N., additional, D'Cruz, D., additional, Gaddum, N., additional, Foote, L., additional, Schnackenburg, B., additional, Higgins, D., additional, Nucifora, G., additional, Muser, D., additional, Morocutti, G., additional, Gianfagna, P., additional, Zanuttini, D., additional, Piccoli, G., additional, Proclemer, A., additional, Prati, G., additional, Vitrella, G., additional, Allocca, G., additional, Buttignoni, S., additional, Delise, P., additional, Sinagra, G., additional, Silva, G., additional, Almeida, A., additional, David, C., additional, Francisco, A., additional, Magalhaes, A., additional, Placido, R., additional, Menezes, M., additional, Guimaraes, T., additional, Mendes, A., additional, Nunes Diogo, A., additional, Aneq, M., additional, Papavassiliu, T., additional, Sandberg, R., additional, Schimpf, R., additional, Schoenberg, S., additional, Borggrefe, M., additional, Doesch, C., additional, Tamin, S., additional, Tan, L., additional, Joshi, S., additional, Memon, S., additional, Tangcharoen, T., additional, Prasertkulchai, W., additional, Yamwong, S., additional, Sritara, P., additional, Binti Ngah, N., additional, Cruz, D., additional, Rebellato, L., additional, Daleffe, E., additional, Facchin, D., additional, Melao, F., additional, Paiva, M., additional, Pinho, T., additional, Martins, E., additional, Vasconcelos, M., additional, Madureira, A., additional, Macedo, F., additional, Ramos, I., additional, Maciel, M., additional, Agoston-Coldea, L., additional, Marjanovic, Z., additional, Hadj Khelifa, S., additional, Kachenoura, N., additional, Lupu, S., additional, Soulat, G., additional, Farge-Bancel, D., additional, Mousseaux, E., additional, Dastidar, A., additional, Augustine, D., additional, McAlindon, E., additional, Leite, S., additional, Sousa, C., additional, Rangel, I., additional, El ghannudi, S., additional, Lefoulon, A., additional, Noel, E., additional, Germain, P., additional, Doutreleau, S., additional, Jeung, M., additional, Gangi, A., additional, Roy, C., additional, Pisciella, L., additional, Zachara, E., additional, Federica, R., additional, Emdin, M., additional, Baydes, R., additional, Mahmoud, I., additional, and Jackson, T., additional
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- 2014
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4. 1054Cardiac magnetic resonance evidence of heart involvement in females with hypereosinophilic syndrome of undefined etiology
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Sokołowska, B, primary, Miszalski-Jamka, T, additional, Szczeklik, W, additional, Karwat, K, additional, Miszalski-Jamka, K, additional, Belzak, K, additional, Mazur, W, additional, Kereiakes, DJ, additional, Jaźwiec, P, additional, and Musiał, J, additional
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- 2013
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5. 1065Cardiac magnetic resonance predictors of LV remodeling early after STEMI
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Karwat, K, primary, Tomala, M, additional, Miszalski-Jamka, K, additional, Lichołaj, S, additional, Mazur, W, additional, Kereiakes, DJ, additional, Nessler, J, additional, Żmudka, K, additional, Jaźwiec, P, additional, and Miszalski-Jamka, T, additional
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- 2013
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6. 1052Cardiac involvement in subjects with Churg-Strauss syndrome in clinical remission
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Miszalski-Jamka, T, primary, Sokołowska, B, additional, Szczeklik, W, additional, Karwat, K, additional, Miszalski-Jamka, K, additional, Belzak, K, additional, Małek, Ł, additional, Mazur, W, additional, Kereiakes, DJ, additional, Jaźwiec, P, additional, and Musiał, J, additional
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- 2013
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7. 969Prognostic value of cardiac magnetic resonance imaging in patients with suspected or known left ventricular non-compaction
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Miszalski-Jamka, K, primary, Kłyś, J, additional, Głowacki, J, additional, Kijas, M, additional, Miszalski-Jamka, T, additional, Adamczyk, T, additional, Kwieciński, R, additional, Bogucka-Czapska, J, additional, Ozaist, M, additional, Mazur, W, additional, Kluczewska, E, additional, Kalarus, Z, additional, and Kukulski, T, additional
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- 2013
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8. Left ventricular twist abnormalities in patients with left ventricular non-compaction. A cardiovascular magnetic resonance study
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Miszalski-Jamka Karol, Taylor Michael, Glowacki Jan, Hor Kan N, Miszalski-Jamka Tomasz, Rycaj Jaroslaw, Adamczyk Tomasz, Kwiecinski Radoslaw, Klys Jan, Williams Kathleen I, Huang Victoria M, Kluczewska Ewa, Kalarus Zbigniew, and Mazur Wojciech
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Diseases of the circulatory (Cardiovascular) system ,RC666-701 - Published
- 2012
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9. Echocardiographic predictors of positive left ventricular remodeling in patients with a history of active myocarditis.
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Kozieł-Siołkowska M, Boidol J, Miszalski-Jamka K, Kalarus Z, and Kukulski T
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- Humans, Ventricular Remodeling physiology, Echocardiography methods, Electrocardiography, Heart Ventricles diagnostic imaging, Myocarditis diagnostic imaging
- Abstract
Introduction: Myocarditis may be difficult to diagnose because of the variety of its clinical manifestations, and the clinical course of the disease can be unpredictable. Nevertheless, some patients may exhibit partial or full contractile recovery following myocarditis. Standard and speckle-tracking echocardiography may serve as tools to follow this recovery., Objectives: We aimed to evaluate predictors of positive left ventricular (LV) remodeling after active myocarditis (AM)., Patients and Methods: A database of a high‑volume, tertiary cardiology center was searched for patients with AM hospitalized between 2016 and 2019. They were included in the analysis based on clinical manifestations and presence of at least 1 of the following diagnostic criteria: positive findings on electrocardiography / Holter monitoring, echocardiography, elevated troponin T/I levels, functional or structural abnormalities on cardiac imaging, or tissue characterization by cardiac magnetic resonance. LV global longitudinal strain and mechanical dispersion (MD; defined as SD of the time to peak longitudinal strain derived from all LV segments in 3 apical views) were determined. Echocardiographic response (positive LV remodeling measured by transthoracic echocardiography) was defined as end‑systolic volume (ESV) reduction by 15% or greater or end-diastolic volume (EDV) reduction by 15% or greater from the baseline values., Results: A total of 61 consecutive patients were recruited. The median follow‑up was 1.4 years (range, 0.3-4). The mortality rate was 1.6%. Echocardiographic response was noted in 24 patients (39.4%). A multivariable Cox regression model including significant baseline differences as covariates showed that QRS duration (hazard ratio [HR], 1.31; 95% CI, 1.17-1.57; P = 0.049), MD (HR, 1.03; 95% CI, 1.01-1.07; P = 0.04), and mineralocorticoid receptor antagonist [MRA] use (HR, 8.60; 95% CI, 1.50-46.49; P = 0.01) were independently associated with positive LV remodeling with ESV reduction. MD (HR, 1.04; 95% CI, 1.02-1.06; P = 0.04) was also independently associated with positive LV remodeling with EDV reduction., Conclusions: Mechanical dispersion, QRS duration, and MRA use are independent predictors of positive LV remodeling in individuals with a history of AM.
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- 2024
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10. Perimyocardial Injury Specific for SARS-CoV-2-Induced Myocarditis in Comparison With Non-COVID-19 Myocarditis: A Multicenter CMR Study.
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Haberka M, Rajewska-Tabor J, Wojtowicz D, Jankowska A, Miszalski-Jamka K, Janus M, Dorniak K, Kulawiak-Gałąska D, Stasiow B, Rozmiarek S, Szurowska E, Elikowski W, Ławrynowicz M, Śpiewak M, Koziński M, and Pyda M
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- Humans, Predictive Value of Tests, Registries, SARS-CoV-2, COVID-19 complications, Myocarditis diagnostic imaging
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- 2022
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11. Cardiac magnetic resonance in myocarditis.
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Śpiewak M, Dorniak K, Miszalski-Jamka K, Haberka M, Pyda M, and Marczak M
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- Heart, Humans, Magnetic Resonance Spectroscopy, Myocardium, Myocarditis diagnostic imaging
- Published
- 2021
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12. Correction to: The evaluation of annuloplasty in bicuspid aortic valve repair using cardiac magnetic resonance.
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Jasinski MJ, Miszalski-Jamka K, Kosiorowska K, Gocol R, Wenzel-Jasinska I, Bielicki G, Berezowski M, Lukaszewski M, Kansy A, and Deja MA
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- 2021
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13. The evaluation of annuloplasty in bicuspid aortic valve repair using cardiac magnetic resonance.
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Jasinski MJ, Miszalski-Jamka K, Kosiorowska K, Gocol R, Wenzel-Jasinska I, Bielicki G, Berezowski M, Lukaszewski M, Kansy A, and Deja MA
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- Adult, Aged, Aortic Valve Insufficiency diagnostic imaging, Aortic Valve Insufficiency physiopathology, Bicuspid Aortic Valve Disease diagnostic imaging, Bicuspid Aortic Valve Disease physiopathology, Echocardiography, Female, Hemodynamics, Humans, Male, Middle Aged, Predictive Value of Tests, Prospective Studies, Recovery of Function, Time Factors, Treatment Outcome, Ventricular Function, Left, Ventricular Remodeling, Aortic Valve Insufficiency surgery, Bicuspid Aortic Valve Disease surgery, Cardiac Valve Annuloplasty adverse effects, Magnetic Resonance Imaging, Cine
- Abstract
Background: The incompetent bicuspid aortic valve (BAV) can be replaced or repaired using various surgical techniques. This study sought to assess the efficacy of external annuloplasty and postoperative reverse remodelling using cardiac magnetic resonance (CMR) and compare the results of external and subcommissural annuloplasty., Methods: Out of a total of 200 BAV repair performed between 2004 and 2018, 21 consecutive patients (median age 54 years) with regurgitation requiring valve repair with annuloplasty without concomitant aortic root surgery were prospectively referred for CMR and transthoracic echocardiography (TTE) one year after the operation. Two aortic annulus stabilization techniques were used: external, circumferential annuloplasty (EA), and subcommissural annuloplasty (SCA)., Results: 11 patients received EA and 10 patients were treated using SCA. There was no in-hospital mortality and all patients survived the follow-up period (median: 12.6 months (first quartile: 6.6; third quartile: 14.1). CMR showed strong correlation between postoperative aortic recurrent regurgitant fraction and left ventricular end-diastolic volume (r = 0.62; p = 0.003) as well as left ventricular ejection fraction (r = -0.53; p = 0.01). Patients treated with EA as compared with SCA had larger anatomic aortic valve area measured by CMR (3.5 (2.5; 4.0) vs. 2.5 cm
2 (2.0; 3.4); p = 0.04). In both EA and SCA group, aortic valve area below 3.5 cm2 correlated with no regurgitation recurrency. EA (vs. SCA) was associated with lower peak transvalvular aortic gradients (10 (6; 17) vs. 21 mmHg (15; 27); p = 0.04)., Conclusions: The repair of the bicuspid aortic valve provides significant postoperative reverse remodelling, provided no recurrent regurgitation and durable reduction annuloplasty can be achieved. EA is associated with lower transvalvular gradients and higher aortic valve area assessed by CMR, compared to SCA.- Published
- 2021
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14. Variability in Ejection Fraction Measured By Echocardiography, Gated Single-Photon Emission Computed Tomography, and Cardiac Magnetic Resonance in Patients With Coronary Artery Disease and Left Ventricular Dysfunction.
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Pellikka PA, She L, Holly TA, Lin G, Varadarajan P, Pai RG, Bonow RO, Pohost GM, Panza JA, Berman DS, Prior DL, Asch FM, Borges-Neto S, Grayburn P, Al-Khalidi HR, Miszalski-Jamka K, Desvigne-Nickens P, Lee KL, Velazquez EJ, and Oh JK
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- Cardiac Imaging Techniques, Female, Humans, Male, Middle Aged, Cardiac-Gated Single-Photon Emission Computer-Assisted Tomography, Coronary Artery Disease diagnostic imaging, Coronary Artery Disease physiopathology, Echocardiography, Magnetic Resonance Imaging, Stroke Volume, Ventricular Dysfunction, Left diagnostic imaging, Ventricular Dysfunction, Left physiopathology
- Abstract
Importance: Clinical decisions are frequently based on measurement of left ventricular ejection fraction (LVEF). Limited information exists regarding inconsistencies in LVEF measurements when determined by various imaging modalities and the potential impact of such variability., Objective: To determine the intermodality variability of LVEF measured by echocardiography, gated single-photon emission computed tomography (SPECT), and cardiovascular magnetic resonance (CMR) in patients with left ventricular dysfunction., Design, Setting, and Participants: International multicenter diagnostic study with LVEF imaging performed at 127 clinical sites in 26 countries from July 24, 2002, to May 5, 2007, and measured by core laboratories. Secondary study of clinical diagnostic measurements of LVEF in the Surgical Treatment for Ischemic Heart Failure (STICH), a randomized trial to identify the optimal treatment strategy for patients with LVEF of 35% or less and coronary artery disease. Data analysis was conducted from March 19, 2016, to May 29, 2018., Main Outcomes and Measures: At baseline, most patients had an echocardiogram and subsets of patients underwent SPECT and/or CMR. Left ventricular ejection fraction was measured by a core laboratory for each modality independent of the results of other modalities, and measurements were compared among imaging methods using correlation, Bland-Altman plots, and coverage probability methods. Association of LVEF by each method and death was assessed., Results: A total of 2032 patients (mean [SD] age, 60.9 [9.6] years; 1759 [86.6%] male) with baseline LVEF data were included. Correlation of LVEF between modalities was r = 0.601 (for biplane echocardiography and SPECT [n = 385]), r = 0.493 (for biplane echocardiography and CMR [n = 204]), and r = 0.660 (for CMR and SPECT [n = 134]). Bland-Altman plots showed only moderate agreement in LVEF measurements from all 3 core laboratories with no substantial overestimation or underestimation of LVEF by any modality. The percentage of observations that fell within a range of 5% ranged from 43% to 54% between different imaging modalities., Conclusions and Relevance: In this international multicenter study of patients with coronary artery disease and reduced LVEF, there was substantial variation between modalities in LVEF determination by core laboratories. This variability should be considered in clinical management and trial design., Trial Registration: Clinicaltrials.gov Identifier: NCT00023595.
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- 2018
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15. Primary pericardial mesothelioma in a 48-year-old patient.
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Kowalczuk-Wieteska A, Filipiak K, Miszalski-Jamka K, Nozynski J, and Zembala M
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- Heart Neoplasms surgery, Humans, Mesothelioma surgery, Middle Aged, Pericardium diagnostic imaging, Pericardium surgery, Heart Neoplasms diagnosis, Mesothelioma diagnosis
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- 2017
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16. Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
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Bostwick BL, McLean S, Posey JE, Streff HE, Gripp KW, Blesson A, Powell-Hamilton N, Tusi J, Stevenson DA, Farrelly E, Hudgins L, Yang Y, Xia F, Wang X, Liu P, Walkiewicz M, McGuire M, Grange DK, Andrews MV, Hummel M, Madan-Khetarpal S, Infante E, Coban-Akdemir Z, Miszalski-Jamka K, Jefferies JL, Rosenfeld JA, Emrick L, Nugent KM, Lupski JR, Belmont JW, Lee B, and Lalani SR
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- Adolescent, Adult, Child, Child, Preschool, Female, Heart Defects, Congenital genetics, Humans, Infant, Intellectual Disability genetics, Male, Syndrome, CDC2 Protein Kinase genetics, Face abnormalities, Heart Defects, Congenital metabolism, Intellectual Disability metabolism, Mutation, Phenotype
- Abstract
Background: De novo missense variants in CDK13 have been described as the cause of syndromic congenital heart defects in seven individuals ascertained from a large congenital cardiovascular malformations cohort. We aimed to further define the phenotypic and molecular spectrum of this newly described disorder., Methods: To minimise ascertainment bias, we recruited nine additional individuals with CDK13 pathogenic variants from clinical and research exome laboratory sequencing cohorts. Each individual underwent dysmorphology exam and comprehensive medical history review., Results: We demonstrate greater than expected phenotypic heterogeneity, including 33% (3/9) of individuals without structural heart disease on echocardiogram. There was a high penetrance for a unique constellation of facial dysmorphism and global developmental delay, as well as less frequently seen renal and sacral anomalies. Two individuals had novel CDK13 variants (p.Asn842Asp, p.Lys734Glu), while the remaining seven unrelated individuals had a recurrent, previously published p.Asn842Ser variant. Summary of all variants published to date demonstrates apparent restriction of pathogenic variants to the protein kinase domain with clustering in the ATP and magnesium binding sites., Conclusions: Here we provide detailed phenotypic and molecular characterisation of individuals with pathogenic variants in CDK13 and propose management guidelines based upon the estimated prevalence of anomalies identified.
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- 2017
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17. No-reflow and platelet reactivity in diabetic patients with ST-segment elevation myocardial infarction: is there a link?
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Kuliczkowski W, Miszalski-Jamka K, Kaczmarski J, Pres D, and Gąsior M
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Competing Interests: The authors declare no conflict of interest.
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- 2017
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18. Noncorticosteroid immunosuppression limits myocardial damage and contractile dysfunction in eosinophilic granulomatosis with polyangiitis (Churg-Strauss syndrome).
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Miszalski-Jamka T, Szczeklik W, Sokołowska B, Karwat K, Miszalski-Jamka K, Jaźwiec P, Małek ŁA, Al-Khalidi H, Schulz-Menger J, Mavrogeni S, Mahr A, Mazur W, Kereiakes DJ, and Musiał J
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- Churg-Strauss Syndrome diagnostic imaging, Churg-Strauss Syndrome pathology, Churg-Strauss Syndrome physiopathology, Heart Ventricles diagnostic imaging, Humans, Immunosuppressive Agents therapeutic use, Myocardial Contraction, Myocardium pathology, Ultrasonography, Churg-Strauss Syndrome drug therapy, Churg-Strauss Syndrome economics
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- 2015
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19. The relationship between late gadolinium enhancement imaging and myocardial biopsy in the evaluation of chronic heart failure patients with suspected myocarditis.
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Nowak J, Wasilewski J, Reichman-Warmusz E, Spinczyk B, Głowacki J, Miszalski-Jamka K, Segiet O, Szyguła-Jurkiewicz B, Tajstra M, Badziński A, Wojnicz R, and Poloński L
- Abstract
Aim: The aim of this study was to assess the relationship between late gadolinium-enhanced (LGE) cardiovascular magnetic resonance (CMR) and immunohistochemical markers of inflammation in patients with heart failure and a reduced ejection fraction (HFrEF)., Material and Methods: Endomyocardial biopsy and CMR were performed in 38 consecutive patients (24 males, average age 43.2 ± 6.9 years, New York Heart Association [NYHA] class II) with HFrEF and suspected myocarditis. The immunohistochemical evaluation was done by the En-Vision system using DAKO monoclonal antibodies. The presence of > 14 infiltrating cells together with myocardial damage and ≥ 2 + up-regulation of HLA class II was considered diagnostic for myocarditis. The results of LGE were compared with the immunohistochemical markers of inflammation. All patients underwent coronary angiography., Results: Twelve out of 38 (31.6%) patients met the immunohistological criteria for the diagnosis of myocarditis. Late gadolinium enhancement was present in 23 of 38 (60.5%) patients, mostly at the interventricular septum. No correlation was found between LGE and immunohistochemistry results (Kendall's tau; r = 0.21, p = 0.09)., Conclusions: Our study revealed no significant relationship between LGE cardiovascular magnetic resonance imaging and immunohistochemical markers of inflammation in patients with HFrEF.
- Published
- 2014
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