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

Authors :
Pistoia L
Meloni A
Ricchi P
Filosa A
Lisi R
Maggio A
Rosso R
Messina G
Iacono ND
Cuccia L
Campisi S
Missere M
Midiri M
Vallone A
Renne S
Schicchi N
Righi R
Mangione M
Positano V
Pepe A
Source :
Blood transfusion = Trasfusione del sangue [Blood Transfus] 2021 Mar; Vol. 19 (2), pp. 168-176. Date of Electronic Publication: 2020 Jul 22.
Publication Year :
2021

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.<br />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.<br />Results: Three groups of patients were identified: β <superscript>+</superscript> homozygotes (n=158), β <superscript>+</superscript> /β° heterozygotes (n=298) and β° homozygotes (n=252). Compared to β <superscript>+</superscript> 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 <superscript>+</superscript> homozygotes of arrhythmias and cardiac complications considered globally.<br />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.

Details

Language :
English
ISSN :
2385-2070
Volume :
19
Issue :
2
Database :
MEDLINE
Journal :
Blood transfusion = Trasfusione del sangue
Publication Type :
Academic Journal
Accession number :
33000750
Full Text :
https://doi.org/10.2450/2020.0023-20