Laura Pistoia1, Antonella Meloni1, Paolo Ricchi2, Aldo Filosa2, Roberto Lisi3, Aurelio Maggio4, Rosamaria Rosso5, Giuseppe Messina6, Nicola Dello Iacono7, Liana Cuccia8, Saveria Campisi9, Massimiliano Missere10, Massimo Midiri11, Antonino Vallone12, Stefania Renne13, Nicolò Schicchi14, Riccardo Righi15, Maurizio Mangione1, Vincenzo Positano1, Alessia Pepe1. 1. "G. Monasterio Foundation", National Research Council - Region of Tuscany, Pisa, Italy. 2. "A. Cardarelli" Hospital, Naples, Italy. 3. "Garibaldi-Centro" Hospital, Catania, Italy. 4. "V. Cervello" Hospital, Palermo, Italy. 5. "Vittorio Emanuele" University Hospital, Catania, Italy. 6. "Bianchi-Melacrino-Morelli" Hospital, Reggio Calabria, Italy. 7. "Casa Sollievo della Sofferenza" Research Hospital, San Giovanni Rotondo (FG), Italy. 8. "Civico-Benfratelli-Di Cristina" Hospital, Palermo, Italy. 9. "Umberto I" Hospital, Siracusa, Italy. 10. "Giovanni Paolo II" Research Hospital, Campobasso, Italy. 11. "Policlinico Paolo Giaccone" University Hospital, Palermo. 12. "Garibaldi-Nesima" Hospital, Catania, Italy. 13. "Giovanni Paolo II" Hospital, Lamezia Terme, Italy. 14. "Umberto I-Lancisi-Salesi" University Hospital, Ancona, Italy. 15. "Delta" Hospital, Lagosanto (FE), Italy.
Abstract
BACKGROUND: The causes and effects of genotypic heterogeneity in beta-thalassemia major (β-TM) have not been fully investigated. The aim of this multicentre study was to determine whether different genotype groups could predict the development of cardiovascular magnetic resonance abnormalities and cardiac complications. MATERIALS AND METHODS: We considered 708 β-TM patients (373 females, age 30.05±9.47 years) consecutively enrolled in the Myocardial Iron Overload in Thalassemia (MIOT) network. Data were collected from birth to the first cardiac magnetic resonance scan. Myocardial iron overload was assessed using a T2* technique. Biventricular function was quantified by cine images. Macroscopic myocardial fibrosis was evaluated by a late gadolinium enhancement technique. RESULTS: Three groups of patients were identified: β+ homozygotes (n=158), β+/β° heterozygotes (n=298) and β° homozygotes (n=252). Compared to β+ homozygotes, the other two groups showed a significantly higher risk of myocardial iron overload and left ventricular dysfunction. We recorded 90 (13.0%) cardiac events: 46 episodes of heart failures, 38 arrhythmias (33 supraventricular, 3 ventricular and 2 hypokinetic) and 6 cases of pulmonary hypertensions. β° homozygotes showed a significantly higher risk than β+ homozygotes of arrhythmias and cardiac complications considered globally. DISCUSSION: Different genotype groups predicted the development of myocardial iron overload, left ventricular dysfunction, arrhythmias and cardiac complications in β-TM patients. These data support the importance of genotype knowledge in the management of β-TM patients.
BACKGROUND: The causes and effects of genotypic heterogeneity in beta-thalassemia major (β-TM) have not been fully investigated. The aim of this multicentre study was to determine whether different genotype groups could predict the development of cardiovascular magnetic resonance abnormalities and cardiac complications. MATERIALS AND METHODS: We considered 708 β-TM patients (373 females, age 30.05±9.47 years) consecutively enrolled in the Myocardial Iron Overload in Thalassemia (MIOT) network. Data were collected from birth to the first cardiac magnetic resonance scan. Myocardial iron overload was assessed using a T2* technique. Biventricular function was quantified by cine images. Macroscopic myocardial fibrosis was evaluated by a late gadolinium enhancement technique. RESULTS: Three groups of patients were identified: β+ homozygotes (n=158), β+/β° heterozygotes (n=298) and β° homozygotes (n=252). Compared to β+ homozygotes, the other two groups showed a significantly higher risk of myocardial iron overload and left ventricular dysfunction. We recorded 90 (13.0%) cardiac events: 46 episodes of heart failures, 38 arrhythmias (33 supraventricular, 3 ventricular and 2 hypokinetic) and 6 cases of pulmonary hypertensions. β° homozygotes showed a significantly higher risk than β+ homozygotes of arrhythmias and cardiac complications considered globally. DISCUSSION: Different genotype groups predicted the development of myocardial iron overload, left ventricular dysfunction, arrhythmias and cardiac complications in β-TM patients. These data support the importance of genotype knowledge in the management of β-TM patients.
Authors: Alfred E Buxton; Hugh Calkins; David J Callans; John P DiMarco; John D Fisher; H Leon Greene; David E Haines; David L Hayes; Paul A Heidenreich; John M Miller; Athena Poppas; Eric N Prystowsky; Mark H Schoenfeld; Peter J Zimetbaum; Paul A Heidenreich; David C Goff; Frederick L Grover; David J Malenka; Eric D Peterson; Martha J Radford; Rita F Redberg Journal: J Am Coll Cardiol Date: 2006-12-05 Impact factor: 24.094
Authors: Antonella Meloni; Laura Pistoia; Paolo Ricchi; Maria Caterina Putti; Maria Rita Gamberini; Liana Cuccia; Giuseppe Messina; Francesco Massei; Elena Facchini; Riccardo Righi; Stefania Renne; Giuseppe Peritore; Vincenzo Positano; Filippo Cademartiri Journal: J Pers Med Date: 2022-03-04