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Genotype and cardiac findings in non transfusion dependent thalassemia patients

Session Poster Session 6

Speaker Antonella Meloni

Event : ESC Congress 2019

  • Topic : imaging
  • Sub-topic : Cardiac Magnetic Resonance (CMR)
  • Session type : Poster Session

Authors : A Meloni (Pisa,IT), L Pistoia (Pisa,IT), N Giunta (Palermo,IT), S Renne (Lamezia Terme,IT), M Missere (Campobasso,IT), E Grassedonio (Palermo,IT), G Peritore (Palermo,IT), S Pulini (Pescara,IT), M Pasin (Rome,IT), PMG Sanna (Sassari,IT), V Positano (Pisa,IT), A Pepe (Pisa,IT)

A. Meloni1 , L. Pistoia1 , N. Giunta2 , S. Renne3 , M. Missere4 , E. Grassedonio5 , G. Peritore2 , S. Pulini6 , M. Pasin7 , P.M.G. Sanna8 , V. Positano1 , A. Pepe1 , 1Fondazione Toscana Gabriele Monasterio - Pisa - Italy , 2Ospedale Civico - Palermo - Italy , 3Presidio Ospedaliero “Giovanni Paolo II” - Lamezia Terme - Italy , 4Centro di Ricerca e Formazione ad Alta Tecnologia nelle Scienze Biomediche - “Giovanni Paolo II” - Campobasso - Italy , 5University Hospital Paolo Giaccone - Palermo - Italy , 6Ospedale Civile “Spirito Santo” - Pescara - Italy , 7Sandro Pertini Hospital - Rome - Italy , 8University of Sassari - Sassari - Italy ,

Cardiac Magnetic Resonance

European Heart Journal ( 2019 ) 40 ( Supplement ), 3162

Background: In non transfusion dependent thalassemia (NTDT) the lack of a clear genotype-phenotype relationship complicates the already complex and extensive scenario in clinical practice.

Purpose: Our aim was to detect if the presence of a β°/β° homozygous genotype was associated to different rate of cardiac findings by Cardiovascular Magnetic Resonance (CMR) and cardiac complications.

Methods: We considered 81 patients with thalassemia intermedia never transfused o who received occasional transfusions (37.7±11.4 years, 39 females) consecutively enrolled in the Myocardial Iron Overload in Thalassemia project. CMR was used to quantify iron overload (T2* technique), biventricular morphological and functional parameters (cine sequences), and the presence of myocardial fibrosis (late gadolinium enhancement-LGE technique). All cardiac complications were classified according to international guidelines.

Results: Two groups of patients were identified: non homozygous β°/β° genotype (N=61) and homozygous β°/β° genotype (N=20.) No significant differences for sex and age were found between the groups.

Patients with homozygous β°/β° genotype had lower mean haemoglobin levels (8.6±1.1g/dl vs 9.2±1.2 g/dl) but the difference did not reach the statistical significance (P=0.060).

No patient showed cardiac iron and global heart T2* values were comparable between the two groups. Left atrial area index, left ventricular (LV) end-diastolic, end-systolic and stroke volume indexes, LV mass index, right ventricular end-diastolic and end-systolic volume indexes were significantly higher in the homozygous β°/β° group (see Table).

Frequencies of heart failure and arrhythmias were comparable between the groups.

Conclusions: Heart remodelling related to a high cardiac output state cardiomyopathy was more pronounced in patients with homozygous β°/β° genotype. These data can support the knowledge of different phenotypic groups in the management of NTDT patients.

Non-β0/β0 homozygous genotypeβ0/β0 homozygous genotypeP
Left Atrial Area (cm2/m2)13.87±2.5916.63±2.590.001
LV EDVI (ml/m2)94.88±15.59112.94±21.520.003
LV ESVI (ml/m2)35.22±9.5541.88±9.700.018
LV SVI (ml/m2)61.98±12.5769.81±11.200.029
LV mass index (g/m2)61.26±10.1568.63±15.890.030
RV EDVI (ml/m2)91.27±23.50107.53±23.870.019
RV ESVI (ml/m2)33.93±17.5540.81±15.200.043

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