PMID- 30878912
OWN - NLM
STAT- MEDLINE
DCOM- 20200114
LR  - 20220409
IS  - 1096-0961 (Electronic)
IS  - 1079-9796 (Linking)
VI  - 77
DP  - 2019 Jul
TI  - Cardiac involvement by CMR in different genotypic groups of thalassemia major 
      patients.
PG  - 1-7
LID - S1079-9796(18)30442-X [pii]
LID - 10.1016/j.bcmd.2019.01.008 [doi]
AB  - Beta thalassemia major (beta-TM) displays a great deal of phenotypic heterogeneity, 
      not fully investigated in terms of cause-effect. We aimed to detect if different 
      genotypic groups could be related to different levels of cardiac impairment, 
      evaluated by cardiovascular magnetic resonance (CMR). We considered 671 beta-TM 
      patients (age 30.1 years, 52.9% females) consecutively enrolled in the Myocardial 
      Iron Overload (MIO) in Thalassemia network. MIO was assessed by T2* technique. 
      Biventricular function was quantified by cine images. Myocardial fibrosis was 
      evaluated by late gadolinium enhancement (LGE) technique. Three groups of 
      patients were identified: heterozygotes beta(+)/beta degrees  (N = 279), homozygotes 
      beta (+) (N = 154), homozygotes beta degrees  (N = 238). Transfusional needs resulted 
      significantly lower in homozygous beta (+) TM patients when compared to the other 
      groups. The homozygous beta (+) group versus the heterozygous and homozygous beta degrees  
      groups showed higher global heart T2* values (P < 0.0001) and a lower number of 
      patients with a global heart T2* value<20 ms (P < 0.001). The homozygotes 
      beta (+) showed a lower number of patients with a pathological left ventricular 
      ejection fraction (LVEF) than the other two groups (P < 0.05). The beta(+)/beta (+) TM 
      patients showed less MIO and a concordant better systolic heart function. These 
      data support the knowledge of different genotypic groups in the management of 
      beta-TM patients.
CI  - Copyright (c) 2019. Published by Elsevier Inc.
FAU - Pistoia, Laura
AU  - Pistoia L
AD  - Fondazione G. Monasterio CNR-Regione Toscana, Pisa, Italy.
FAU - Meloni, Antonella
AU  - Meloni A
AD  - Fondazione G. Monasterio CNR-Regione Toscana, Pisa, Italy.
FAU - Salvadori, Stefano
AU  - Salvadori S
AD  - Istituto di Fisiologia Clinica, Consiglio Nazionale delle Ricerche, Pisa, Italy.
FAU - Spasiano, Anna
AU  - Spasiano A
AD  - AORN A. Cardarelli, Napoli, Italy.
FAU - Lisi, Roberto
AU  - Lisi R
AD  - Presidio Ospedaliero Garibaldi - Centro - ARNAS Garibaldi, Catania, Italy.
FAU - Rosso, Rosamaria
AU  - Rosso R
AD  - Ospedale Ferrarotto - Azienda Ospedaliero-Universitaria Policlinico Vittorio 
      Emanuele, Catania, Italy.
FAU - Maggio, Aurelio
AU  - Maggio A
AD  - Ospedale V. Cervello, Palermo, Italy.
FAU - D'Ascola, Domenico Giuseppe
AU  - D'Ascola DG
AD  - Azienda Ospedaliera Bianchi-Melacrino-Morelli, Reggio Calabria, Italy.
FAU - Cuccia, Liana
AU  - Cuccia L
AD  - ARNAS Civico Benfratelli-Di Cristina, Palermo, Italy.
FAU - Mangione, Maurizio
AU  - Mangione M
AD  - Fondazione G. Monasterio CNR-Regione Toscana, Pisa, Italy.
FAU - Vallone, Antonino
AU  - Vallone A
AD  - Azienda Ospedaliera Garibaldi Presidio Ospedaliero Nesima, Catania, Italy.
FAU - Restaino, Gennaro
AU  - Restaino G
AD  - Fondazione di Ricerca e Cura Giovanni Paolo II, Campobasso, Italy.
FAU - Midiri, Massimo
AU  - Midiri M
AD  - Policlinico "Paolo Giaccone", Palermo, Italy.
FAU - Pepe, Alessia
AU  - Pepe A
AD  - Fondazione G. Monasterio CNR-Regione Toscana, Pisa, Italy. Electronic address: 
      alessia.pepe@ftgm.it.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20190307
PL  - United States
TA  - Blood Cells Mol Dis
JT  - Blood cells, molecules & diseases
JID - 9509932
RN  - 0 (Biomarkers)
RN  - 0 (beta-Globins)
SB  - IM
MH  - Adult
MH  - Alleles
MH  - Biomarkers
MH  - Blood Transfusion
MH  - Erythrocyte Indices
MH  - Female
MH  - *Genotype
MH  - Heart Diseases/*diagnosis/*etiology
MH  - Heart Function Tests
MH  - Humans
MH  - Iron Overload/complications/diagnosis/etiology/therapy
MH  - *Magnetic Resonance Imaging/methods
MH  - Male
MH  - Middle Aged
MH  - Young Adult
MH  - beta-Globins/*genetics
MH  - beta-Thalassemia/*complications/diagnosis/*genetics/therapy
OTO - NOTNLM
OT  - Beta-thalassemia
OT  - Genotype
OT  - Iron Overload
OT  - Magnetic Resonance Imaging
EDAT- 2019/03/18 06:00
MHDA- 2020/01/15 06:00
CRDT- 2019/03/18 06:00
PHST- 2018/11/27 00:00 [received]
PHST- 2019/01/16 00:00 [revised]
PHST- 2019/01/16 00:00 [accepted]
PHST- 2019/03/18 06:00 [pubmed]
PHST- 2020/01/15 06:00 [medline]
PHST- 2019/03/18 06:00 [entrez]
AID - S1079-9796(18)30442-X [pii]
AID - 10.1016/j.bcmd.2019.01.008 [doi]
PST - ppublish
SO  - Blood Cells Mol Dis. 2019 Jul;77:1-7. doi: 10.1016/j.bcmd.2019.01.008. Epub 2019 
      Mar 7.