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.

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.

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.

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]).

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.

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.

[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.

C(-260)T polymorphism in the promoter of CD 14 gene is not associated with myocardial infarction in the Tunisian population.

Recent findings suggest that inflammation plays a role in atherosclerosis and its acute complications. Several known mechanisms may play at least a partial role in this process. One of the most likely mechanisms involves lipopolysaccharide (LPS) and its receptor, CD14. The C(-260)T single nucleotide polymorphism (rs2569190) in the promoter region of the CD14 receptor gene has been reported to be associated with a higher risk of MI. Others studies, however, have not corroborated these findings. Considering the contradictory results, the aim of the present study was to investigate the possible association between the CD14 C(-260)T polymorphism and the risk of MI in the Tunisian population. A total of 321 Tunisian patients with MI and 344 healthy controls were included in the study. Genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. The frequency of TT homozygous genotype for the CD14 C(-260)T polymorphism was 26.2% in MI patients and 27.0% in the control group. However, the genotype distribution and allele frequencies were not significantly different between MI and controls subjects. Moreover, the odds ratio for MI associated with the TT genotype failed to reach statistical significance (OR=1.22; 95% CI: 0.85-1.77; p=0.272). These results do not support the hypothesis that the C-260T polymorphism of CD14 gene contributes to the genetic susceptibility to MI in the Tunisian population studied.

Transition m.3308T>C in the ND1 gene is associated with left ventricular hypertrabeculation/noncompaction.

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.

Polyester mesh: an alternative material for reinforcing the pulmonary autograft root.

Today, it is widely accepted that the pulmonary autograft should be reinforced when used as a root in the Ross operation. Various techniques using a vascular conduit have been reported. Herein is described an alternative technique, using a polyester mesh, that was applied in a 15-year-old boy with recurrent congenital stenosis. The advantages of using a mesh rather than a solid vascular prosthesis are discussed.

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.

Association between the -2518G/A polymorphism in the monocyte chemoattractant protein-1 (MCP-1) gene and myocardial infarction in Tunisian patients.

BACKGROUND: Monocyte chemoattractant protein-1 (MCP-1; gene name CCL2) has been suggested to play an important role in the initiation of atherosclerosis by recruiting monocytes to sites of injured endothelium. Recently, single nucleotide polymorphisms (SNPs) in the MCP-1 regulatory region have been identified. Controversial results regarding the association of the -2518G/A polymorphism of the MCP-1 gene with coronary artery disease (CAD) have been reported. In the present study, we examined a possible association between the -2518G/A polymorphism of the MCP-1 gene and myocardial infarction (MI) in a sample of the Tunisian population. METHODS: A total of 319 Tunisian patients with MI and 467 healthy controls were included in the study. The SNP of the MCP-1 gene was determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. RESULTS: Patients with MI had significantly higher frequency of the AG+GG genotypes compared to controls [42.9% vs. 35.8%; OR (95%CI), 1.34 (1.00-1.79); p=0.04]. The MI patient group showed a significant higher frequency of the G allele compared to the controls [0.242 vs. 0.195; OR (95%CI), 1.31(1.02-1.68), p=0.03]. The association between the -2518G/A polymorphism of the MCP-1 gene and MI was no longer significant after adjustment for other well-established risk factors. CONCLUSION: The present study showed a significant but not independent association between the -2518G/A polymorphism of the MCP-1 gene (presence of G allele) and MI in the Tunisian population.

[Percutaneous balloon valvotomy for combined rheumatic mitral and aortic stenosis]. / Dilatation percutanee d'un double retrecissement mitral et aortique d'origine rhumatismale.

BACKGROUND: Balloon dilatation of the mitral valve is an established modality of treating patients with mitral stenosis. However, there is limited experience for simultaneous dilatation of combined mitral and aortic stenosis. AIM: Report our experience in percutaneous balloon valvotomy for combined mitral and aortic rheumatic stenosis. CASE REPORT: We describe a case of a 33 years old woman who successfully balloon valvotomy for rheumatic mitral and aortic stenosis via the transseptal anterograde approach using Inoué balloon for mitral valve and retrograde approach single balloon for aortic valve. CONCLUSION: Double valve balloon valvotomy is feasible and safe in selected patients with combined mitral and aortic rheumatic stenosis.

[Tetralogy of fallot with absent pulmonary valve]. / L'agenesie des valves pulmonaires avec communication interventriculaire.

BACKGROUND: Absent pulmonary valve with ventricular septal defect is a rare cardiac malformation. The aim of our study is to specify the anatomic characteristics and the clinical and echocardiographic features of this cardiac malformation and to discuss its management. METHODS: We report 8 cases of absent pulmonary valve with ventricular septal defected collected over a period of 24 years. The diagnosis was made during the first year of life in all cases in the presence of respiratory symptoms and/or cyanosis. It was confirmed by cardiac catheterization in 4 cases and echocardiography in 4 cases. RESULTS: Pulmonary vascular obstructive disease, related to aortopulmonary collateral vessels, was noted in one patient who died at the age of 20 years. One patient was lost to follow up and 6 patients were operated. Closure of the ventricular septal defect, widening of the pulmonary tract and insertion of a pulmonary valve were performed in the 6 cases. Reduction procedure of the pulmonary arteries was performed in 3 cases. One death related to early postoperative infective endocarditis was noted. At a mean follow up of 2 years, the 5 survivors are going well with no significant pulmonary stenosis. CONCLUSION: Although named "tetralogy of Fallot with absent pulmonary valve", absent pulmonary valve with ventricular septal defect is different from tetralogy of Fallot by aneurysmal dilatation of the pulmonary arteries which may compress the bronchial tree and lead to respiratory symptoms that can be severe with respiratory distress. Pulmonary arterioplasty eliminate airways obstruction and its results are satisfactory. The need for insertion of a pulmonary valve is debatable.