Systolic Pulmonary Artery Pressure Thresholds Predictive of Dyspnea on Stress Doppler Echocardiography in Mitral Stenosis.

Background: On Stress Doppler Echocardiography (SDE) in mitral stenosis, the systolic pulmonary artery pressure (SPAP) threshold at peak exercise recommended by the guidelines as an indication for percutaneous mitral commissurotomy (PMC) used to be 60 mmHg. However, because of the paucity of studies, that threshold has been controversial. The Europeans stopped using the value in 2007, followed by the Americans in 2014. Objective: Determine SPAP thresholds on SDE at peak exercise and post-exercise predictive of dyspnea as an indication for PMC in mitral stenosis. Method and results: Three hundred mitral stenosis patients with a mitral valve area (MVA) ≤ 2 cm2 and NYHA I-II-III were included. A treadmill stress test (Bruce protocol) was used in all cases to distinguish dyspneic patients (n = 182) from non dyspneic patients (n = 118). SDE was performed on a stress echocardiography bed, starting at 30 W and increasing by 30 W every 3 min. At peak exercise, the best SPAP threshold obtained was 75 mmHg: specificity (Sp) = 0.98 (0.94-1), positive likelihood ratio (LR+) = 47 (41-50), positive predictive value (PPV) = 0.99 (0.95-1), and positive predictive error (PPE) = 0.01 (0.002-0.05). This compared with, respectively, 0.34, 1, 0.69 and 0.31 at 60 mmHg. Post-exercise, the best SPAP threshold found was 60 mmHg: Sp = .94 (0.88-0.97), LR = 9 (4-10), PPV = 0.94 (0.87-0.97), and PPE = 0.06 (0.03-0.13). Conclusion: Regarding the prediction of dyspnea as an indication for PMC, our study shows that a SPAP value at peak exercise of 60 mmHg lacks predictive power (LR+=1). The optimal threshold observed was 75 mmHg at peak exercise (LR+ = 47 [41-50]) and 60 mmHg post-exercise (LR+ = 9 [4-10]).

Epidemiological characteristics, management, and outcomes of atrial fibrillation in TUNISIA: Results from the National Tunisian Registry of Atrial Fibrillation (NATURE-AF).

BACKGROUND: Contemporary registries on atrial fibrillation (AF) are scare in North African countries. HYPOTHESIS: In the context of the epidemiological transition, prevalence of valvular AF in Tunisia has decreased and the quality of management is still suboptimal. METHODS: NATURE-AF is a prospective Tunisian registry, involving consecutive patients with AF from March 1, 2017 to May 31, 2017, with a one-year follow-up period. All the patients with an Electrocardiogram-documented AF, confirmed in the year prior to enrolment were eligible. The epidemiological characteristics and outcomes were described. RESULTS: A total of 915 patients were included in this study, with a mean age of 64.3 ± 22 years and a male/female sex ratio of 0.93. Valvular AF was identified in 22.4% of the patients. The mean CHA2 DS2 VASC score in nonvalvular AF was 2.4 ± 1.6. Monotherapy with antiplatelet agents was prescribed for 13.8% of the patients. However, 21.7% of the subjects did not receive any antithrombotic agent. Oral anticoagulants were prescribed for half of the patients with a low embolic risk score. In 341 patients, the mean time in therapeutic range was 48.87 ± 28.69%. Amiodarone was the most common antiarrhythmic agent used (52.6%). During a 12-month follow-up period, 15 patients (1.64%) had thromboembolism, 53 patients (5.8%) had major hemorrhage, and 52 patients (5.7%) died. CONCLUSIONS: NATURE-AF has provided systematic collection of contemporary data regarding the epidemiological and clinical characteristics as well as the management of AF by cardiologists in Tunisia. Valvular AF is still prevalent and the quality of anticoagulation was suboptimal.

Multiallelic rare variants support an oligogenic origin of sudden cardiac death in the young.

Unexplained sudden death in the young is cardiovascular in most cases. Structural and conduction defects in cardiac-related genes can conspire to underlie sudden cardiac death. Here we report a clinical investigation and an extensive genetic assessment of a Tunisian family with sudden cardiac death in young members. In order to identify the family-genetic basis of sudden cardiac death, we performed Whole Exome Sequencing (WES), read depth copy-number-variation (CNV) screening and segregation analysis. We identify 6 ultra-rare pathogenic heterozygous variants in OBSCN, RYR2, DSC2, AKAP9, CACNA1C and RBM20 genes, and one homozygous splicing variant in TECRL gene consistent with an oligogenic model of inheritance. CNV analysis did not reveal any causative CNV consistent with the family phenotype. Overall, our results are highly suggestive for a cumulative effect of heterozygous missense variants as disease causation and to account for a greater disease severity among offspring. Our study further confirms the complexity of the inheritance of sudden cardiac death and highlights the utility of family-based WES and segregation analysis in the identification of family specific mutations within different cardiac genes pathways.

Matrix metalloproteinase-3 predicts clinical cardiovascular outcomes in patients with coronary artery disease: a 5 years cohort study.

Matrix metalloproteinases (MMPs) are implicated in atherosclerosis evolution into a coronary artery disease (CAD). They could be used as biomarkers for a predictive approach when they are studied simultaneously. We aim in our study to demonstrate prospectively in patients with history of CAD that MMPs level is linked to clinical cardiovascular outcomes. Two hundred and eighteen patients diagnosed with CAD were followed prospectively for 5 years in the Cardiology Department of la Rabta Hospital University. Clinical cardiovascular outcomes during the period of the cohort were recorded. Measures were performed for biological and matrix markers at baseline. MMP-3, MMP-8, MMP-9, TIMP-1 and TIMP-2 were measured by ELISA in Sandwich assay. Fifty-nine cardiovascular outcomes occurred during the cohort period. By multivariate analysis, only MMP-3 persisted as a predictor for cardiovascular events even after adjustment. This metalloproteinase have been shown to be an independent predictor for cardiovascular outcomes (HR = 3.01; CI (1.3-6.95). The found cut-off value by receiver operating curve (ROC) was used for Kaplan-Meier analysis and revealed that patients with MMP-3 level higher than 9.3 ng/mL had a lower survival rate (p = 0.03). MMP-3 baseline level in patients with history of CAD is a potential predictor for cardiovascular outcomes.

Late mitral restenosis after percutaneous commissurotomy: Predictive value of inflammation and extracellular matrix remodeling biomarkers.

BACKGROUND: The role of chronic inflammation in mitral restenosis after percutaneous mitral commissurotomy (PMC) is still controversial. AIMS: We sought to assess the predictive value of inflammation and extracellular matrix (ECM) remodeling biomarkers in late mitral restenosis after PMC. METHODS: We prospectively enrolled 155 patients (mean age 46.2±11 years) with at least 5 year follow up after primary PMC. Serum levels of high sensitive C-Reactive Protein (hs-CRP), matrix metalloproteinases MMPs, tissue-specific inhibitors of matrix metalloproteinases TIMPs, and tumor necrosis factor α (TNFα)] were measured. RESULTS: Late mitral restenosis occurred in 55 patients (35.5%). The independent predictors of late mitral stenosis were: age> 55 years [HR10.51 (95%CI 1.12-95.9); p=0.037]; no long acting penicillin therapy [HR 18.1 (95% CI 2.6-122.9); p=0.003]; TNFα > 80 ng/ml [HR 5.85 (95% CI 1.1-31.42); p=0.039]; and TIMP-2 > 289 ng/ml [HR 0.52 (95% CI 0.22-0.95); p=0.045]. CONCLUSION: Chronic inflammation and ECM remodeling are involved in late mitral restenosis after PMC.

Association Between the G20210A Polymorphism of Prothrombin Gene and Myocardial Infarction in Tunisian Population.

The prothrombin is the precursor of the serine protease thrombin, a key enzyme in homeostasis. Prothrombin G20210A polymorphism (rs1799963) was described as a moderate risk factor for venous thrombosis because this mutation is associated with prothrombin elevated levels which may lead to an imbalance between the procoagulant, anticoagulant, and fibrinolytic system. 20210A carriers have an increased risk of thrombosis. In this study, we proposed to determine the prevalence of 20210A prothrombin variant among Tunisian population, and to evaluate the potential relevance of this variant with myocardial infarction. This study included 1290 unrelated Tunisians (1007 male and 283 female) divided in two groups: Four hundred and eighty-seven MI patients (mean age: 52.64 ± 8.98 years) and 803 apparently healthy controls (mean age: 51 ± 8.99). The prothrombin G20210A polymorphism was carried out by polymerase chain reaction/restriction fragment length polymorphism (PCR-RFLP) analysis. The distribution of genotypes was in accordance with Hardy-Weinberg equilibrium (p > 0.05). A significant difference in genotype distribution and allele frequency was observed between patients and controls. Male patients with MI had a frequency of 97 % for GG genotype and 3 % for GA+AA genotypes. The control group had a frequency of 99 % for the GG genotype and 1 % for the GA+AA genotypes which is significantly lower than the frequency found in patients (p = 0.01). The same genotype frequencies were found in women (p = 0.032). The MI patient group showed a significantly higher frequency of 20210A allele compared to controls 0.02 versus 0.01 [OR = 3.60 (95 % CI = 1.29-10.53), p = 0.005] in men and 0.015 versus 0.068 [OR = 4.68 (95 % CI = 1.60-14.26), p = 0.001] in women. Our work showed a significant but not independent association between the G20210A polymorphism of the prothrombin gene and MI in the Tunisian population.

Metabolic Syndrome, Independent Predictor for Coronary Artery Disease.

BACKGROUND: Metabolic syndrome (MS) was reported to be associated with coronary artery disease (CAD). The aim of the present study was to assess the association between MS and CAD angiographic severity and to search the predictive value of MS and its individual components for CAD. METHODS: 428 patients who underwent elective coronary angiography at the Cardiology Department were included in the study. MS was defined according to National Cholesterol Education Program (NCEP) Adult Treatment Panel III criteria. CAD severity was determined by Gensini scors. RESULTS: The proportion of CAD (+) who had MS was significantly higher compared to CAD (-) (63.6% vs. 48.6%, p = 0.020). Gensini score and number of MS components were positively correlated (r = 0.144, p = 0.019). The adjusted predictive abilities for angiographic CAD of MS and its individual components showed that high FBG and high TG are predictive factors for CAD in binary logistic regression analysis (OR = 2.238, 95% CI 1.111 - 4.508, p = 0.024 vs. OR = 2.200, 95% CI 1.078 - 4.492, p = 0.030). The OR for CAD risk of different phenotypes in high FBG and/or HTG shows that this combination increased the OR significantly to 2.307. Among the quartets, the cluster with high BP and low HDL-C was the highest risk (OR = 4.879). However, the combination including all components of MS was a significant contributor to CAD risk. CONCLUSIONS: The MS score correlates with the angiographic severity of CAD. The predictive ability for CAD was stronger with high FBG and high TG and associated low HDL-C and high BP, which seem to act synergistically as risk factors for CAD. Therefore, to prevent or decrease this risk of CAD, clinicians should screen for individual abnormalities of MS, mainly elevated blood glucose level and TG.

Left main coronary artery thrombosis revealing angio-Behçet syndrome.

Although acute myocardial infarction commonly results from coronary atherothrombosis, there are several other etiologies that should be taken initially into account, especially in young adults without significant atherosclerotic risk factors. Thrombophilia and coronary arteritis are, in this context, examples of etiologies that should be looked after. Through this article, we present a case of Behçet's disease with arterial involvement diagnosed after myocardial infarction resulting from thrombosis of the left main coronary artery in a 38-year-old young man without any particular past medical history.

The measurement of circulating matrix metalloproteinase-8 and its tissue inhibitor and their association with inflammatory mediators in patients with acute coronary syndrome.

BACKGROUND: The aim of the present study was to investigate differences of matrix metalloproteinase-8 and tissue inhibitor of metalloproteinase-1 in the peripheral blood of patients admitted with acute coronary syndrome (ACS) and its correlation with the widely accepted markers of inflammatory activity, C-reactive protein, fibrinogen, and white blood cell number. METHODS: 315 patients with ACS (165 unstable angina pectoris/non-ST-elevation myocardial infarction, 150 ST elevation myocardial infarction), 111 stable angina (SA) patients, and 296 control subjects were enrolled in the study. All biochemical analyses were carried out using a Hitachi 912 analyzer (Roche). Matrix metalloproteinase-8 (MMP-8) and tissue inhibitor of metalloproteinase-1 (TIMP-1) levels were determined in citrate plasma by ELISA methods. White blood cells (WBC) and fibrinogen were also determined. RESULTS: The plasma concentrations of matrix metalloproteinase-8, tissue inhibitor of metalloproteinase-1, C-reactive protein, fibrinogen, and WBCs in patients with acute coronary syndrome were significantly higher than those in the control group (p < 0.001). Strong positive associations were observed between MMP-8 and TIMP-1 (r = 0.328, p < 0.001), MMP-8 and CRP (r = 0.171, p < 0.001), MMP-8 and Fibrinogen (r = 0.267, p < 0.001), MMP-8 and WBC (r = 0.163, p < 0.01), TIMP-1 and CRP (r = 0.219, p < 0.01), TIMP-1 and fibrinogen (r = 0.226, p < 0.01), TIMP-1 and WBC (r = 0.094, p < 0.1). Other positive correlations were observed between CRP and fibrinogen, CRP and WBC and fibrinogen and WBC in the patients with ACS. CONCLUSIONS: Observations suggest that ACS show an increase in both remodeling and inflammation markers. In addition, the strong relationship with MMP-8 and inflammatory mediators such as CRP, fibrinogen and WBC in ACS patients suggests that MMP-8 might be an additional marker and/or consequence of inflammatory components in ACS.

Polymorphisms of the NOS3 gene and risk of myocardial infarction in the Tunisian population.

Controversial results regarding the association of eNOS gene (NOS3) polymorphisms with myocardial infarction (MI) have been reported. This study investigated the relationship of the -786T>C (rs2070744), 894G>T (rs1799983) and 4a4b polymorphisms of the NOS3 gene with the presence of MI in the Tunisian population. In addition, we also examined the association of NOS3 gene haplotypes with MI in Tunisian subjects. A total of 303 patients with MI and 225 controls were included in the study. The 894G>T and -786T>C single nucleotide polymorphisms were analyzed by PCR-RFLP, and 4a4b polymorphism just for PCR. There was significant linkage disequilibrium between the three NOS3 polymorphisms (p<0.0001). The genotype distribution and allele frequency of NOS3 4a4b, but not -786T>C and 894G>T, polymorphism was significantly different between MI patients and controls. The univariate logistic regression analysis showed a significant association of the 4a4b polymorphism and MI according to co-dominant, dominant and recessive models (co-dominant model OR: 4.38, 95%CI: 1.24-15.41; p=0.021, dominant model OR: 1.66, 95%CI: 1.14-2.42); p=0.007, and recessive model OR: 3.85, 95%CI: 1.10-13.47; p=0.035). The multivariate analysis, adjusted for traditional cardiovascular risk factors, revealed that the NOS3 4a4a genotype was an independent predisposing factor to MI, according to the models considered. In addition, a haplotype 7 (C-T-4a), (OR=12.05, p=0.010) was a risk factor of MI after controlling for classical risk factors. These finding suggest that the 4a4b polymorphism of the NOS3 gene was associated with MI in Tunisian patients.

Management of acute coronary syndromes in Maghreb countries: The ACCESS (ACute Coronary Events - a multinational Survey of current management Strategies) registry.

BACKGROUND: The burden of cardiovascular diseases is anticipated to rise in developing countries. We sought to describe the epidemiology, management, and clinical outcomes of patients hospitalized with acute coronary syndromes (ACS) in three countries in western North Africa. METHODS: Adult patients hospitalized with a diagnosis of ACS were enrolled in the prospective ACute Coronary Events - a multinational Survey of current management Strategies (ACCESS) registry over a 13-month period (January 2007 to January 2008). We report on patients enrolled at sites in Algeria, Morocco and Tunisia. A standardized form was used to collect data on patient characteristics, treatments and outcomes. RESULTS: A total of 1687 patients with confirmed ACS were enrolled (median age 59 [interquartile range 52, 68] years; 76% men), 59% with ST-elevation myocardial infarction (STEMI) and 41% with non-ST-elevation ACS (NSTE-ACS). During hospitalization, most patients received aspirin (96%) and a statin (90%), 83% received a beta-blocker and 74% an angiotensin-converting enzyme inhibitor. Among eligible STEMI patients, 42% (419/989) did not receive fibrinolysis or undergo percutaneous coronary intervention. All-cause death at 12 months was 8.1% and did not differ significantly between patients with STEMI or NSTE-ACS (8.3% vs 7.7%, respectively; Log-rank test P=0.82). Clinical factors associated with higher risk of death at 12 months included cardiac arrest, cardiogenic shock, bleeding episodes and diabetes, while percutaneous coronary intervention and male sex were associated with lower risk. CONCLUSIONS: In this observational study of ACS patients from three Maghreb countries, the use of evidence-based pharmacological therapies for ACS was quite high; however, 42% of the patients with STEMI were not given any form of reperfusion therapy.

Association between endothelial nitric oxide gene intron 4a4b VNTR polymorphism and plasma homocysteine concentrations in Tunisian male patients with myocardial infarction.

Many studies have shown that hyperhomocysteinemia may be an independent risk factor for coronary artery disease. However, not all prospective studies support an association between elevated plasma homocysteine levels and coronary artery disease. Nitric oxide (NO) plays a relevant role in various events during atherogenesis, and in vitro data suggest that NO may modulate total homocysteine (tHcy) concentrations, whereas polymorphisms of the endothelial nitric oxide (NOS3) gene have been reported to be related to an increased risk of myocardial infarction (MI) and hyperhomocysteinemia, but the results have been controversial. We hypothesized that the NOS3 synthase 4a4b VNTR polymorphism is a determinant of tHcy concentrations and tested this in 310 patients with MI and 250 controls. The NOS3 gene intron 4a4b VNTR polymorphism was analyzed by polymerase chain reaction analysis. There was no significant difference in the homocysteine levels between patients with MI and controls. The frequencies of the NOS34b4b, 4b4a, and 4a4a genotypes in the MI group were significantly different from those in the control group. In patients with MI, plasma tHcy concentrations were significantly different among the NOS3 genotypes (13.5±4.5, 18.5±3.9, and 20.4±2.1 µmol/L for 4b4b, 4a4b, and 4a4a genotypes, respectively; P<.001). However, no significant difference was observed for tHcy concentrations in the control group. In conclusion, the NOS34a4b gene polymorphism (presence of 4a allele) is associated with MI and influences plasma tHcy concentrations in patients with MI in the Tunisian male population.

[Contrast-induced nephropathy after cardiac catheterization: a prospective study of 180 patients]. / Néphropathie induite par les produits de contraste iodés après cathétérisme cardiaque : Une étude prospective de 180 patients.

BACKGROUND: Contrast-induced nephropathy (CIN) is associated with an increased cardiovascular morbi-mortality. Little is known about the incidence and risk factors of CIN after cardiac catheterization in Tunisian patients. AIM: To determine the incidence of CIN and its predictors after coronary angiography as well as its prognostic and therapeutic repercussions in a Tunisian patients' cohort. METHODS: In this prospective single center study, 180 consecutive patients who underwent cardiac catheterization were enrolled; all patients were followed-up for 3 months. RESULTS: The incidence of CIN defined as an absolute increase in serum creatinine ³ 5 mg/l (44µmol/l) and/or a relative increase in serum creatinine ³ 25%, was 17.2%. In multivariate logistic regression, independent predictors of CIN were: diabetes mellitus (Odds Ratio (OR)=2.26 ; 95% confidence interval (95%CI) : 1.29- 3.98, p=0.005), creatinine clearance < 80ml/mn (OR=2.87 ; 95%CI : 1.59-5.19, p<0.001), left ventricular ejection fraction (LVEF) < 45% (OR=2.03 ; 95%CI : 1.22-3.39, p=0.007) and use of a volume of contrast media > 90ml (1.72 ; 95%CI : 0.99-2.99, p=0.05). Perprocedural hypotension was the strongest independent predictor of CIN in our study (OR=3.99; 95% CI: 1.65-9.66, p=0.002). CIN was totally regressive within one month in 27 patients (86.7%) while 3 patients (10%) had a residual renal dysfunction at the end of the follow-up period (3 months). CONCLUSION: More than one angiocoronarography on 6 resulted in CIN in our population. CIN affects cardiovascular prognosis even if renal function normalization is usually obtained within one month after the investigation. Besides identifying risk factors of CIN in order to apply preventive measures in risky patients, we stress the necessity of insuring a good hemodynamic status while achieving the procedure.

Bare metal stent thrombosis in patients with acute coronary syndrome.

BACKGROUND: Patients undergoing coronary stenting during acute coronary syndrome (ACS) are exposed to a higher risk of stent thrombosis (ST) than those undergoing elective stenting. FEW STUDIES HAVE AIMED TO IDENTIFY ST INCIDENCE AND PREDICTORS IN THIS SPECIFIC POPULATION. METHODS AND RESULTS: This single-center study enrolled 611 consecutive Tunisian patients with ACS who underwent coronary stenting with bare metal stents (BMS). The incidence of ARC (Academic Research Consortium) definite ST throughout a median 16-month follow-up period was 3.5%; it was 9.2% in patients with ST-elevation myocardial infarction (STEMI) who underwent an emergency percutaneous coronary intervention (PCI). Independent predictors were fever during PCI (hazard ratio (HR) 5.19; 95% confidence interval (95%CI) 1.69-15.95, P=0.004); premature cessation of clopidogrel (HR 2.66; 95%CI 1.02-6.97, P=0.046), resumption of smoking (after PCI) (HR 4.41; 95%CI 1.58-12.27, P=0.005), primary PCI (HR 5.02; 95%CI 1.57-16.01, P=0.006), rescue PCI (HR 6.33; 95%CI 2.08-19.34, P=0.001), reference vessel diameter <2.8mm (HR 6.96; 95%CI 2.06-23.56, P=0.002), TIMI flow grade before PCI <2 (HR 11.51; 95%CI 2.76-48.06, P=0.001) and a visible thrombus (HR 3.57; 95%CI 1.1-11.12, P=0.028). CONCLUSIONS: The incidence of ST in ACS patients was higher than classically described. Clopidogrel discontinuation and resumption of smoking are involved. Efforts should be made to improve patient education and secondary prevention.

Polymorphisms in the CC-chemokine receptor-2 (CCR2) and -5 (CCR5) genes and risk of myocardial infarction among Tunisian male patients.

OBJECTIVES: The aim of the present study was to investigate the association between CCR2-Val64Ile and CCR5-Δ32 variants and the estimation of haplotypes with MI in a sample of the Tunisian population. DESIGN AND METHODS: A total of 290 unrelated MI patients and 282 healthy controls were studied. The CCR2-Val64Ile and CCR5-Δ32 variants were analyzed by PCR-RFLP. RESULTS: Subjects carrying at least one copy of the CCR5-deletion allele were significantly more common in the control group, suggesting an atheroprotective effect (adjusted OR=0.44, 95% CI=0.28-0.72, p=0.001). Haplotype analysis showed that MI patients had significantly less 64Val-Del haplotype (9.9% vs. 21.3%, OR=0.30, 95% CI=0.21-0.43, p<0.001) and 64Ile-Ins haplotype (12.3% vs. 16.7%, OR=0.58, 95% CI=0.42-0.80, p<0.001). CONCLUSION: A protective effect of the CCR5-Δ32 polymorphism against MI in the Tunisian population was found.

Renin-angiotensin system polymorphisms in relation to hypertension status and obesity in a Tunisian population.

Essential hypertension (HTA) is the clinical expression of a disordered interaction between the genetic, physiological, and biochemical systems that under usual conditions maintain cardiovascular homeostasis. We studied the effects of the angiotensinogen M235T, angiotensin converting enzyme insertion/deletion (ACE I/D), and angiotensin II receptor 1 (AT1R) A1166C gene polymorphisms on the risk of HTA and to evaluate the relationship between these polymorphisms and obesity. We performed AGT, ACE and AGTR genotyping in 142 hypertensive patients and 191 control subjects using PCR-RFLP methods and PCR, respectively. The three polymorphisms were significantly associated with HTA. Individuals carrying the mutated TT of AGT, DD of ACE and CC of AT1R genotypes had an 1.67 (P = 0.032), 3.09 (P < 0.001) and 3.45 (P < 0.001)-fold increased risk of HTA. After adjustment for sex, smoking, diabetes, dyslipidemia, BMI, triglycerides and DD, TT and CC genotypes, BMI was independent risk factor of HTA (OR = 3.14; P < 0.001). An association of BMI with ACE gene polymorphism (P = 0.035), whereas no association with AGT and AT1R gene polymorphisms was obtained. The proportion of hypertensives is as high as 21.8 and 13.4% in the overweight and the obese DD group. The present study implies that the genotyping for the variants of RAS gene could in the future become an important part of the clinical process of risk identification for HTA.

Acute myocardial infarction in a patient with hypofibrinogenemia: a case report.

INTRODUCTION: Congenital fibrinogen deficiency is a rare coagulation disorder usually responsible for hemorrhagic diathesis. However, it can be associated with thrombosis and there have been limited reports of arterial thrombotic complications in these patients. CASE PRESENTATION: A 42-year-old Tunisian man with congenital hypofibrinogenemia and no cardiovascular risk factors presented with new onset prolonged angina pectoris. An electrocardiogram showed features of inferior acute myocardial infarction. His troponin levels had reached 17 ng/L. Laboratory findings confirmed hypofibrinogenemia and ruled out thrombophilia. Echocardiography was not useful in providing diagnostic elements but did show preserved left ventricular function. Coronary angiography was not performed and our patient did not receive any anticoagulant treatment due to the major risk of bleeding. Magnetic resonance imaging confirmed myocardial necrosis. Our patient was managed with aspirin, a beta-blocker, an angiotensin-converting enzyme inhibitor and statin medication. The treatment was well tolerated and no ischemic recurrence was detected. CONCLUSION: Although coronary thrombosis is a rare event in patients with fibrinogen deficiency, this condition is of major interest in view of the difficulties observed in managing these patients.