Abdeddayem Haggui

Lack of association between factor V Leiden and prothrombin G20210A polymorphisms in Tunisian subjects with a history of myocardial infarction

BACKGROUNDnMyocardial infarction is a multifactorial disease. It is provoked by occlusions in the coronary arteries resulting from exposure to multiple risk factors.nnnOBJECTIVEnTo study the risk of myocardial infarction associated with the gene polymorphisms of factor V Leiden and factor II (G20210A).nnnMATERIALS AND METHODSnCases consisted of 100 myocardial infarction patients who were hospitalized in the Principal Military Hospital of Tunis and 200 control subjects with no history of myocardial infarction.nnnRESULTSnThe prevalence of the factor V Leiden was higher in myocardial infarction patients (9%) than in control subjects (6%) with an OR=1.55 (95% CI=0.58-4.12), whereas the prevalence of prothrombin G20210A mutation was 3% and 2.5% in the patient and control groups, respectively [OR=1.21 (95% CI=0.22-5.94)].nnnCONCLUSIONnOur results indicate that neither factor V Leiden nor the prothrombin G20210A contributed to the risk factors for myocardial infarction.

The Effect of ACE I/D Polymorphisms Alone and With Concomitant Risk Factors on Coronary Artery Disease:

Background: Coronary artery disease (CAD), also known as atherosclerotic heart disease, is a leading cause of mortality and morbidity throughout the world. The role of insertion/deletion (I/D) polymorphisms of the angiotensin-converting enzyme (ACE) gene in the etiology of CAD remains to be more completely clarified. The aim of this study was to determine the role of the ACE I/D polymorphism in patients with CAD and to study the association together with traditional risk factors in assessing the risk of CAD. Methods: Our study population included 145 Tunisian patients with symptomatic CAD and a control group of 300 people matched for age and sex. All participants in the study were genotyped for the ACE I/D polymorphisms obtained by polymerase chain reaction amplification on genomic DNA. Results: Our analysis showed that the ACE D allele frequency (P < 10−3; odds ratio [OR] = 5.2; 95% confidence interval [CI] = 3.6-7.6) and DD genotype (P < 10−3; OR = 6.8; 95% CI = 4.4-10) are significantly more prevalent among patients with CAD than in controls and may be predisposing to CAD. We further found that the risk of CAD is greatly potentiated by several concomitant risk factors (smoking, diabetes, hypertension, dyslipidemia, and a family history of CAD). Conclusion: The ACE D allele may be predictive in individuals who may be at risk of developing CAD. Further investigations of these polymorphisms and their possible synergisms with traditional risk factors for CAD could help to ascertain better predictability for CAD susceptibility.

Association of methylenetetrahydrofolate reductase C677T and A1298C polymorphisms with myocardial infarction in Tunisian young patients

Myocardial infarction (MI) is an important clinical problem because of its large contribution to mortality. The objective of this study is to assess whether two methylenetetrahydrofolate reductase (MTHFR) polymorphisms, C677T and A1298C, were associated with MI among Tunisian patients. One hundred young patients (<47xa0years old) with MI were recruited and compared with 200 control subjects with no history of MI. The most common MI risk factors were investigated. Fasting plasma homocysteine levels were measured. Genotypes of the MTHFR C677T and A1298 polymorphisms were studied by polymerase chain reaction. The mean plasma homocysteine level in the study group was raised when compared with the control group. Homozygous MTHFR C677T mutation was observed in 2 (2xa0%) patients and in 17 (8.5xa0%) control subjects, whereas heterozygous MTHFR C677T mutation was detected in 82 (82xa0%) patients versus only 79 (39.5xa0%) in control subjects. The mean total homocysteine concentrations were significantly higher in individuals with the 677TT and CT genotypes. Our results indicate that C677T and A1298C MTHFR mutations and hyperhomocysteinemia contributed to the risk factors for MI.

Multimodality imaging assessment of a caseous calcification of the mitral valve annulus

Caseous calcification of the mitral annulus (CCMA) is a rare echocardiographic finding. It is commonly misdiagnosed as an abscess, tumor or infective vegetation on the mitral valve. Since it is a benign process, differentiating it from malignant intra-cardiac mass is primordial to avoid unnecessary surgery. Various imaging modalities can be complimentary for definitive diagnosis. We present a case of CCMA in a 71-year-old female patient. Her medical history revealed hypertension, diabetes mellitus, hyperlipidaemia and coronary artery disease. She was referred to our department for coronary catheterization because of angina symptoms upon minimal exertion. The lesion was detected during echocardiography and was defined as a mass of heterogeneous content with calcification points, located at the posterior side of the mitral valve annulus. Restricted motion of the posterior leaflet and the mass effect caused only minimal mitral regurgitation. To establish the correct diagnosis, we performed the full spectrum of noninvasive cardiac imaging modalities. Transesophageal echocardiography identified well-organized, composite lesion with regular edges, markedly calcified margins and more echolucent central portion. A computed tomography (CT) was performed, showing a hyperdense mass with hypodense center and a calcified peripheral rim located at the posterior mitral ring. Cardiac magnetic resonance imaging (MRI) showed that the mass was hypointense with respect to the myocardium in the T1 and T2-weighted sequences and only presented late-phase enhancement in the surrounding capsule. Based on the CT and MRI findings, the diagnosis of CCMA was established. The patient was managed conservatively.

Design and Rationale of the National Tunisian Registry of Atrial Fibrillation: Protocol for a Prospective, Multicenter Trial

Background Atrial fibrillation (AF) is an important health problem in Tunisia. A significant change in the epidemiological pattern of heart disease has been seen in the last 3 decades; however, no large prospective multicenter trial reflecting national data has been published so far. Robust data on the contemporary epidemiological profile and management of AF patients in Tunisia are limited. Objective The aim of this study is to analyze, follow, and evaluate patients with AF in a large multicenter nationwide trial. Methods A total of 1800 consecutive patients with AF by electrocardiogram, reflecting all populations of all geographical regions of Tunisia, will be included in the study, with the objective of describing the epidemiological pattern of AF. Patients will be officially enrolled in the National Tunisian Registry of Atrial Fibrillation (NATURE-AF) only if an electrocardiogram diagnosis (12-lead, 24-hour Holter, or other electrocardiographic documentation) confirming AF is made. The qualifying episode of AF should have occurred within the last year, and patients do not need to be in AF at the time of enrollment. Patients will be followed for 1 year. Incidence of stroke or transient ischemic attack, thromboembolic events, and cardiovascular death will be recorded as the primary end point, and hemorrhagic accidents, measurement of international normalized ratio, and time in therapeutic range will be recorded as secondary end points. Results Results will be available at the end of the study; the demographic profile and general risk profile of Tunisian AF patients, frequency of anticoagulation, frequency of effective treatment, and risks of thromboembolism and bleeding will be evaluated according to the current guidelines. Major adverse events will be determined. NATURE-AF will be the largest registry for North African AF patients. Conclusions This study would add data and provide a valuable opportunity for real-world clinical epidemiology in North African AF patients with insights into the uptake of contemporary AF management in this developing region. Trial Registration ClinicalTrials.gov NCT03085576; https://clinicaltrials.gov/ct2/show/NCT03085576 (Archived by WebCite at http://www.webcitation.org/6zN2DN2QX) Registered Report Identifier RR1-10.2196/8523

Association of FV G1691A Polymorphism but not A4070G With Coronary Artery Disease

Coronary artery disease (CAD) is one of the chief causes of death in the world. Several hypotheses have been promoted as for the origin of the disease, among which are genetic predispositions and/or environmental factors. The aim of this study was to determine the effect of factor V (FV) gene polymorphisms (Leiden, G1691A [FVL] and HR2 A4070G) and to analyze their association with traditional risk factors in assessing the risk of CAD. Our study population included 200 Tunisian patients with symptomatic CAD and a control group of 300 participants matched for age and sex. All participants were genotyped for the FVL and HR2 polymorphisms. Multivariate logistic regression was applied to analyze independent factors associated with the risk of CAD. Our analysis showed that the FVL A allele frequency (P < 10–3, odds ratio [OR] = 2.81, 95% confidence interval [CI] = 1.6-4.9) and GA genotype (P < 10–3, OR = 4.03, 95% CI = 2.1-7.6) are significantly more prevalent among patients with CAD compared to those controls and may be predisposing to CAD. We further found that the FVL mutation is an independent risk factor whose effect is not modified by other factors (smoking, diabetes, hypertension, dyslipidemia, and a family history of CAD) in increasing the risk of the disease. However, analysis of FV HR2 variation does not show any statistically significant association with CAD. The FVL polymorphism may be an independent risk factor for CAD. However, further investigations on these polymorphisms and their possible synergisms with traditional risk factors for CAD could help to ascertain better predictability for CAD susceptibility.

Combination of factor V Leiden and MTHFR mutations in myocardial infarction.

Identifying patients who are at high risk of suffering myocardial infarction can be done by determining risk factors or by the adoption of molecular genetic testing for inherited thrombophilia. We report a case of myocardial infarction at a young age. The patient complained of dyspnea (stage III) and a burning pain of severe intensity that radiated to the left retrosternal side, but was not associated with palpitations or diaphoresis. A number of biochemical parameters were normal except for an elevated creatinine phosphokinase (CPK) level. Genetic testing revealed the subject to be heterozygous for both the factor V leiden and MTHFR C677T polymorphisms. The combination of these two mutations may be a high risk factor for myocardial infarction. Genetic screening for inherited thrombophilia in young patients, especially in the presence of a common risk factor, may be useful for primary thromboprophylaxis and in asymptomatic relatives of patients.