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Mahjoub S.,University of Monastir | Mehri S.,University of Monastir | Ourda F.,Service de Cardiologie Pediatrique | Boussaada R.,Services des Explorations Fonctionnelles Cardiologiques | And 2 more authors.
Annales de Cardiologie et d'Angeiologie

Aims of the study: Idiopathic dilated cardiomyopathy (IDC) is a complex disease. The interest of this study were to investigate the epidemiology characteristics of the disease and to evaluate the prognostic echocardiographic markers by region in order to highlight the existence of genetic risk factors and/or environmental and to identify those patients who could benefit from early treatment and better care to avoid further complications of the disease. Patients and methods: This is a retrospective study based on the Fischer exact and bilateral Mann-Whitney test. Results: We included 526 patients with dilated cardiomyopathies of them we detected 50 cases of IDC including 12 families: The average age was 39,3±15.2 years. The sex ratio was 2.6. Mean left ventricular end-diastolic diameter (DIVGd) was higher in patients from the North East region (44.3±6.2mm/m 2). Using Receiver Operating Characteristics (ROC) curve, we found a threshold value of 40mm/m 2. The odds ratio associated with this cutoff was 9.2. Conclusion: Our results suggest that the prevalence and severity of IDC were higher in the North East region of Tunisia. Furthermore, large-scale prospective studies are needed to confirm these findings. In confirmation of a higher prevalence, a genetic study should be undertaken in this region. © 2011 Elsevier Masson SAS. Source

Zarrouk Mahjoub S.,Unite dEpidemiologie Genetique et Moleculaire | Mehri S.,Unite dEpidemiologie Genetique et Moleculaire | Ourda F.,Services des Explorations Fonctionnelles Cardiologiques | Boussaada R.,Services des Explorations Fonctionnelles Cardiologiques | And 3 more authors.

Though left ventricular hypertrabeculation/noncompaction (LVNC) is frequently associated with mitochondrial DNA (mtDNA) mutations, it has not been reported in association with the transition m.3308T>C of the NADH dehydrogenase subunit 1 (ND1) gene. The index patient is a 16-year-old Tunisian female who was investigated for a systolic murmur and cardiomegaly. Echocardiography revealed tricuspid insufficiency, moderate left ventricular dilatation, Ebstein's anomaly, a superior caval vein draining into the coronary sinus and, surprisingly, LVNC of the apex and the lateral wall. LVNC was absent in all other cardiologically investigated siblings. RNA and mtDNA sequence analysis revealed the known homoplasmic mutation m.3308T>C resulting in the replacement of the first amino acid methionine by threonine in the ND1 subunit of respiratory chain complex I. The m.3308T>C mutation was also present in the patient's mother and several other family members but absent in 350 controls. Additionally, the index patient carried the polymorphisms m.8248A>G in the COX2 gene and m.8468C>T in the ATP8 gene. It is concluded that LVNC may be associated with the known homoplasmic m.3308T>C mutation in the ND1 gene. However, the pathogenetic role of this mutation in the development of LVNC remains elusive. © 2011 S. Karger AG, Basel. Source

Mahjoub S.,Unite dEpidemiologie Genetique | Mehri S.,Unite dEpidemiologie Genetique | Mehri S.,University of Monastir | Ghazouani E.,Service dimmunologie | And 6 more authors.
Tissue Antigens

Cardiomyopathies (CMs) are primary disorders of cardiac muscle. They are a major cause of morbidity and mortality for all ages and, like acquired forms of cardiovascular disease, often result in heart failure. Molecular genetic studies have made remarkable progress in defining the pathogenesis of CM. The present study was the first report to evaluate the relationship between class II major histocompatibility complex (MHC) genes (HLA-DRB1 and HLA-DQB1) and the genetic susceptibility to primary dilated cardiomyopathy (DCM) in Tunisian patients. The human leukocyte antigen (HLA)-DRB1 and -DQB1 alleles were analyzed in 76 patients with primary DCM and 111 ethnically matched healthy controls using polymerase chain reaction-sequence specific primers technique. An increased frequencies of HLA-DRB1*0401 (OR = 2.67, P < 0.001), HLA-DQB1*0302 (OR = 3.28, P = 0.001) and HLA-DQB1*0401 (OR = 6.26, P = 0.005) alleles were found in the patients with primary DCM compared with healthy controls. Individuals with HLA-DRB1*1301 (OR = 0.24, P < 0.001) and HLA-DQB1*0201 (OR = 0.49, P = 0.002) alleles have a protective effect against primary DCM. Two haplotypes were associated with increased risk of primary DCM: DRB1*0401/DQB1*0302 (OR = 4.53, P = 0.002) and DRB1*0401/DQB1*0401 (OR = 9.42, P = 0.004). In conclusion, our data suggest that the variation in class II HLA alleles could be a genetic factor involved in the susceptibility to primary DCM in the Tunisian population. © 2010 John Wiley & Sons A/S. Source

Mahjoub S.,University of Monastir | Mehri S.,University of Monastir | Bousaada R.,Services des Explorations Fonctionnelles Cardiologiques | Ouarda F.,Services des Explorations Fonctionnelles Cardiologiques | And 5 more authors.
JRAAS - Journal of the Renin-Angiotensin-Aldosterone System

Primary cardiomyopathies are multifactorial diseases. Genetic factors other than the causal mutations in the modified genes affect the phenotypic expression of dilated cardiomyopathy. The aim of this study was to determine the association of angiotensin-converting enzyme I/D polymorphism with the risk of dilated cardiomyopathy in a Tunisian population. A total of 76 patients with dilated cardiomyopathy was compared to 151 ethnically, age- and gender-matched controls. The frequencies of the DD genotype and D allele were significantly higher in patients as compared with controls, and were associated with increased risk of dilated cardiomyopathy (ACE DD versus ID and II: OR = 3.05 (95% CI, 1.58-5.87; p = 0.001)); D versus I: OR = 2 (95% CI: 1.35-2.97; p = 0.001)). No association was found between the combined genotypes (DD+ID) or D allele and left ventricular end diastolic diameter in dilated cardiomyopathy patients with severe and moderate clinical phenotypes. DD genotype and D allele of angiotensin-converting enzyme I/D gene polymorphism are associated with increased risk of dilated cardiomyopathy in a Tunisian population but do not influence the cardiac phenotype severity. © 2010 The Authors. Source

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