Original article

Blood Transfusion - 2 2021 (March-April)

Genotypic groups as risk factors for cardiac magnetic resonance abnormalities and complications in thalassemia major: a large, multicentre study

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Key words: beta-thalassemia, genotype, magnetic resonance imaging, prognosis
Publication Date: 2020-07-22

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.

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Authors

Laura Pistoia - “G. Monasterio Foundation”, National Research Council - Region of Tuscany, Pisa, Italy

Antonella Meloni - “G. Monasterio Foundation”, National Research Council - Region of Tuscany, Pisa, Italy

Paolo Ricchi - “A. Cardarelli” Hospital, Naples, Italy

Aldo Filosa - “A. Cardarelli” Hospital, Naples, Italy

Roberto Lisi - “Garibaldi-Centro" Hospital, Catania, Italy

Aurelio Maggio - “V. Cervello” Hospital, Palermo, Italy

Rosamaria Rosso - “Vittorio Emanuele” University Hospital, Catania, Italy

Giuseppe Messina - “Bianchi-Melacrino-Morelli” Hospital, Reggio Calabria, Italy

Nicola Dello Iacono - ”Casa Sollievo della Sofferenza” Research Hospital, San Giovanni Rotondo (FG), Italy

Liana Cuccia - “Civico-Benfratelli-Di Cristina” Hospital, Palermo, Italy

Saveria Campisi - “Umberto I” Hospital, Siracusa, Italy

Massimiliano Missere - “Giovanni Paolo II” Research Hospital, Campobasso, Italy

Massimo Midiri - “Policlinico Paolo Giaccone” University Hospital, Palermo

Antonino Vallone - “Garibaldi-Nesima” Hospital, Catania, Italy

Stefania Renne - “Giovanni Paolo II” Hospital, Lamezia Terme, Italy

Nicolò Schicchi - "Umberto I-Lancisi-Salesi" University Hospital, Ancona, Italy

Riccardo Righi - “Delta” Hospital, Lagosanto (FE), Italy

Maurizio Mangione - “G. Monasterio Foundation”, National Research Council - Region of Tuscany, Pisa, Italy

Vincenzo Positano - “G. Monasterio Foundation”, National Research Council - Region of Tuscany, Pisa, Italy

Alessia Pepe - “G. Monasterio Foundation”, National Research Council - Region of Tuscany, Pisa, Italy

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