APOLIPOPROTEIN E Ε4 ALLELE AS a RISK FACTOR FOR LEFT VENTRICULAR FAILURE IN Β-Thalassaemia HOMOZYGOTES. 97

Economou-Petersen, Effrosini; Karagiorga-Lagana, Markissia; Kladi, Athina; Aessopos, Athanasios; Flevari, Panagiota; Karabatsos, Fotis; Fragodimitri, Christina; Drosou, Marouso; Avramopoulos, Dimitris; Kremastinos, D.; Vassilopoulos, D.; Petersen, Marc

doi:10.1203/00006450-199705000-00116

Cited by 18 publications

(21 citation statements)

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“…20 -22 More specifically, myocarditis was identified as a cause of LV failure, whereas the HLA-DQA1*0501 allele and the apolipoprotein E e4 allele were both associated with an increased prevalence of adverse LV remodeling and reduced LVEF in patients with thalassemia major. [23][24][25] Besides direct myocardial injury, iron overload may also affect the heart indirectly through its effects on other organs. Thus, hepatic dysfunction, endocrinopathies (diabetes mellitus, hypothyroidism, hypoparathyroidism), and immune deficiency resulting from iron overload may contribute to the pathophysiology of IOC.…”

Section: Pathogenetic Mechanismsmentioning

confidence: 99%

“…5,32 Whether a patient follows the dilated or the restrictive pathway seems to be crucially dependent on the interaction between the main disease and the additional immunoinflammatory and molecular factors discussed above. [23][24][25] The interference of some of those factors, such as myocarditis, leads to the dilated phenotype, which is believed to be multifactorial in pathophysiology. 10,32 Cardiovascular magnetic resonance imaging (CMR) with T2* relaxometry made possible the quantitative assessment of iron load and confirmed the close correlation between LVEF and myocardial iron deposition.…”

Section: Kremastinos and Farmakis Iron Overload Cardiomyopathy 2255mentioning

confidence: 99%

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Iron Overload Cardiomyopathy in Clinical Practice

2011

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Section: Pathogenetic Mechanismsmentioning

confidence: 99%

Section: Kremastinos and Farmakis Iron Overload Cardiomyopathy 2255mentioning

confidence: 99%

Iron Overload Cardiomyopathy in Clinical Practice

2011

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“…26 In this respect, we have also recently found a significantly higher frequency of the ApoE ⑀4 allele in patients with ␤-thalassemia major with left-sided heart failure. 27 This allele is related with a decreased antioxidant activity and may represent an important genetic risk factor for the development of myocardial damage caused by iron myocardial deposition or myocarditis. 28 -30 Among the most widely recognized functions of the major histocompatibility complex is the presentation of antigens to the immune system and the determination of antigen immunogenicity.…”

Section: Heart Failure In ␤-Thalassemia Majormentioning

confidence: 99%

Association of Heart Failure in Homozygous β-Thalassemia With the Major Histocompatibility Complex

et al. 1999

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Background —In β-thalassemia major, heart failure primarily affecting left ventricular systolic function is the most common complication and cause of death. Apart from iron deposition, it has been recently reported that myocarditis might be another contributing factor in the pathogenesis of acute or chronic heart failure, acting possibly through an autoimmune mechanism. In an attempt to assess the role of immunogenetic factors in the development of heart failure associated with β-thalassemia major, we studied the frequency of major histocompatibility antigens/alleles A, B, DR, and DQ in homozygous β-thalassemic patients with and without heart failure primarily affecting the left ventricle. Methods and Results —Forty-five consecutive unrelated Greek patients with homozygous β-thalassemia and left-sided chronic heart failure were studied. Fifty-eight unrelated Greek patients with homozygous β-thalassemia without heart failure and 130 unrelated Greek healthy controls were also studied. In all subjects, class I HLA-A and -B typing was performed by the complement-mediated lymphocytotoxicity assay, whereas class II HLA-DR and -DQ typing was performed by polymerase chain reaction. HLA-DRB1*1401 allele frequency was significantly increased in patients with β-thalassemia major without left-sided heart failure compared with those with heart failure (corrected P [ P c ]=0.02, odds ratio 0.1) and healthy controls ( P c =0.001). HLA-DQA1*0501 allele frequency was increased in patients with heart failure compared with patients without heart failure ( P c =0.04, odds ratio 14) and healthy controls ( P c =0.004). Conclusions —Differences exist in the immunogenetic profile between homozygous β-thalassemic patients with and without left-sided heart failure, raising the possibility that genetically defined immune mechanisms may play an important role in the pathogenesis of heart failure in β-thalassemia.

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“…2,3 In this study, we investigated the role of the apoE gene polymorphism on LV function in thalassemic patients from southern Iran. We enrolled 202 patients with thalassemia major (age ≥10 years) selected mainly on the basis of their echocardiographic findings.…”

mentioning

confidence: 99%