Cardiac involvement by CMR in different genotypic groups of thalassemia major patients.
Blood Cells Mol Dis
; 77: 1-7, 2019 07.
Article
in En
| MEDLINE
| ID: mdl-30878912
ABSTRACT
Beta thalassemia major (ß-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 ß-TM patients (age 30.1â¯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 ß+/ß° (Nâ¯=â¯279), homozygotes ßâ¯+â¯(Nâ¯=â¯154), homozygotes ß° (Nâ¯=â¯238). Transfusional needs resulted significantly lower in homozygous ßâ¯+â¯TM patients when compared to the other groups. The homozygous ßâ¯+â¯group versus the heterozygous and homozygous ß° groups showed higher global heart T2* values (Pâ¯<â¯0.0001) and a lower number of patients with a global heart T2* value<20â¯ms (Pâ¯<â¯0.001). The homozygotes ßâ¯+â¯showed a lower number of patients with a pathological left ventricular ejection fraction (LVEF) than the other two groups (Pâ¯<â¯0.05). The ß+/ßâ¯+â¯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 ß-TM patients.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Magnetic Resonance Imaging
/
Beta-Thalassemia
/
Beta-Globins
/
Genotype
/
Heart Diseases
Type of study:
Diagnostic_studies
/
Etiology_studies
/
Prognostic_studies
Limits:
Adult
/
Female
/
Humans
/
Male
/
Middle aged
Language:
En
Journal:
Blood Cells Mol Dis
Journal subject:
HEMATOLOGIA
Year:
2019
Document type:
Article
Affiliation country:
Italia