Mitochondrial tRNA glutamine variant in hypertrophic cardiomyopathy.

BACKGROUND: Mitochondria play critical roles in both the life and death of cardiac myocytes. Pathogenic mitochondrial DNA (mtDNA) mutations leading to mitochondrial dysfunction can cause cardiomyopathies (CMPs). Our aim was to investigate the underlying mitochondrial defect in a patient with hypertrophic cardiomyopathy (hCMP). A detailed clinical and molecular genetic analysis was performed. PATIENTS AND METHODS: Total DNA was extracted from lymphocytes in a 14-year-old index male patient with hCMP, preexcitation syndrome, and severe ventricular arrhythmias. Direct sequencing of the PCR fragments was performed. To distinguish deleterious from functionally neutral variants, the ClustalW program, RNAfold software, and PolyPhen algorithm were applied, which predict the pathogenicity of a particular variant by using a set of empirical rules based on the nature of the mutation, the phylogenetic conservation of the variant, and the physicochemical property of the amino acid. RESULTS: The mutational analysis of mtDNA genes revealed four variants. The m.4395A>G transition (C6G) in the MT-TQ gene, which altered an evolutionary conserved nucleotide, with a conservation index of 85.7 % and affected a highly conserved U.G base pair in the secondary structure of MT-TQ. Additionally, the previously reported polymorphisms m.14757T>A, m.15236A>G, and m.15314G>A resulting in the replacement of amino acid residues in the MT-CYB gene were detected. CONCLUSION: The m.4395A>G variant was scored as possibly pathogenic and may exert a negative effect on heart function to generate hCMP.

[Interruption of the aortic arch with no patent ductus arteriosus: is survival possible?]. / Interruption de l'arche sans canal artériel : la survie est-elle possible ?

Interruption of the aortic arch is a rare congenital disease. It is defined by the complete interruption between the ascending and descending aorta. A patent ductus arteriosus is necessary to maintain flow from the pulmonary to the descending aorta. Its closure leads to a cardiovascular collapse and this malformation is therefore duct-dependent. However, in rare cases, survival remains possible even after ductus arteriosus closure. We report such a case.

[Percutaneous mitral commissurotomy associated to sinus venosus atrial septal defect and partially anomalous pulmonary venous connection: a case report]. / Commissurotomie mitrale percutanée associée à une communication interauriculaire type sinus venosus et un retour veineux anormal partiel: à propos d'un cas.

Lutembacher's syndrome refers to the rare combination of congenital atrial septal defect and acquired mitral stenosis. It is rarely associated to partial anomalous pulmonary venous connection. This condition is treated surgically by mitral commissurotomy or mitral valve operation with concomitant closure of the atrial septal defect with correction of the abnormal pulmonary venous connection. Percutaneous mitral commissurotomy before surgery can be a therapeutic alternative when mitral valve stenosis is severe and valve anatomy is favourable. The authors bring back the case of a 24 years old man having mitral stenosis in sinus rhythm associated to sinus venosus septal defect and partial anomalous pulmonary venous connection. The diagnosis was made for the age of 17 years old on the occasion of dyspnea. He benefited in February 2003 of rescue percutaneous mitral commissurotomy because of pulmonary oedema. Mitral valve area increased from 0.7 cm(2) to 1.6 cm(2). The patient was clinically approved, so that he refused surgery and was lost sight. Seven years later (August 2010) he was taken back for a second rescue percutaneous mitral commissurotomy because of a very severe mitral stenosis (mitral valve area was 0.8cm(2)), in pulmonary oedema with echocardiographic evaluated pulmonary hypertension at 68mmHg. The trans-septal complicated of a false road from the right atrium, towards the pericardic cavity. The patient was operated as the matter of urgency, and benefited from a mitral valve replacement by mechanical prosthesis, of closure of sinus venosus septal defect by PTFE patch and correction of abnormal pulmonary venous connection. Operating suites were simple, and the postoperative echocardiography concludes to a good prosthesis profile, the absence of residual shunt and a decrease of pulmonary artery blood pressure from 68 to 40mmHg. In conclusion, percutaneous mitral commissurotomy may be a waiting procedure for surgery of this disease or emergency treatment of it's valve anomaly, with regular monitoring while awaiting surgery faster and in better conditions.

Successful pregnancy and delivery in a woman with a single ventricle and Eisenmenger syndrome.

BACKGROUND: Patients with a single ventricle represent a rare abnormality found in 1% of patients with congenital heart disease, often discovered during childhood. Without pulmonary stenosis, the disease can progress to fixed pulmonary hypertension. Both pregnancy and delivery are risky events capable of increasing the right-to-left shunt. Pregnancy is contraindicated. CASE: We report the case of a 27-year-old woman with a single ventricle without pulmonary protection and fixed pulmonary hypertension at 60 mmHg, discovered during a pregnancy. The delivery was obtained by cesarean section with epidural anesthesia and the patient was perioperatively treated with nitric oxide. Though contraindicated, pregnancy and delivery were successfully achieved in this patient. COMMENT: Patients with single ventricle and Eisenmenger syndrome rarely reach adult life. Pregnancy with this condition is exceptional and fundamentally perturbs hemodynamic stability. In spite of the development of anesthesia and resuscitation and the description of some cases in literature, pregnancy with Eisenmenger syndrome is contraindicated.

[Epidemiological study of the idiopathic dilated cardiomyopathy in Tunisia]. / Étude épidémiologique de la cardiomyopathie dilatée idiopathique en Tunisie.

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.

[Chemotherapy against polycythemia due to a cyanotic congenital heart disease in adults. One case report]. / Chimiotherapie anti-erythrocytaire dans les cardiopathies congenitales cyanogenes de l'adulte. A propos d'une observation.

BACKGROUND: Hydroxyurea has largely been utilized in the management of primary polycythemia. It is certainly efficient in the short and medium terms side effects are marked by a leukemogenic risk. AIM: In this study we report the case in which hydroxyrea was for the first time used in the reatment of secondary polycythemia due to cyanotic congenital heart disease. CASE: Our patient was a 22-years-old man suffering from pulmonary atresia with ventricular septal defect, and for whom ther was no available surgical option. Because of severe symptomatic and demanding polycythemia requiring frequent phlebotomies, we decided to use hydroxyurea at the dose of Igr a day. Eight months later, ther was obvious clinical improvement with stable hematocrit levels below 60% and with only 3 phlebotomies in 8 months. CONCLUSION: Hydroxyurea seems to be an eddicient there alternative therapy for seconday polycythemia caused by incurable cyantic congenital heart disease.

[Surgical repair of atrial septal defect in 1011 consecutive patients]. / Traitement chirurgical des communications interauriculaires chez 1011 patients consécutifs. Incidence des complications postopératoires précoces.

The immediate postoperative complications of 1011 consecutive patients undergoing surgical repair of atrial septal defects between 1980 and 1998 at Marie Lannelongue Hospital were analysedwith the ultimate objective of comparing their incidence with that of percutaneous closure. Five patients died (0.49%) of low cardiac output (N=3), pulmonary oedema (N=1) or pulmonary hypertension (N=1). A total of 356 patients (35.2%) had 448 postoperative complications. There were 77% minor and 23% major complications. The minor complications included arrhythmias and conduction defects (N=130), respiratory complications (N=90) and pericardial effusions (N=64). The main major complications were cardiac failure (N=27), cardiac tamponade (N=13), neurological complications (N=8) and reoperation (N=28). Of the survivors, 95.6% of patients were discharged from hospital with no residual problem and 41 (4.4%) had sequellae: arrhythmias (N=29, including one pacemaker implantation), neurological complications (N=4), acquired mitral regurgitation (N=2), phrenic nerve paralysis (N=1) and minimal residual shunt (N=10). Factors correlated with surgical morbidity were age, the severity of pulmonary hypertension, the type of atrial septal defect (less morbidity with ostium secundum defects), the presence of associated malformations, the surgical approach (less morbidity with the right postero-lateral thoracic approach). This study demonstrated the incompressible risk of open heart cardiac surgery. It will form a basis for a comparative study of the two modern methods of treating atrial septal defect: surgical and percutaneous closure.

[Percutaneous mitral commissurotomy: how can it be made simpler and more efficacious?]. / La commissurotomie mitrale percutanée: comment faire plus simple et plus efficace?

The authors report the results of a simplified method of percutaneous mitral dilatation from 936 procedures. This method introduced in our service since 1997 consists in progressively increasing diameters inflation of Inoué balloon, using echographic control and without any arterial procedure. Our population consists on 683 women (73%) and 253 men with a mean age 34 +/- 15 years (extremely 9 and 80 years) with subgroups composed of 26 pregnant women, 32 children less than 17 years, 59 restenosis after closed heart mitral commissurotomy, 14 restenosis after open heart mitral commissurotomy, 74 restenosis after percutaneous mitral commissurotomy, 5 tricuspid and mitral dilatation, 2 coronary and mitral dilatation (with stenting), 2 patients with a history of surgical mitral valvuloplasty for pure mitral regurgitation. The mitral area passed from 1 +/- 0.2 cm2 to 2.1 +/- 0.1 cm2. A surgical mitral regurgitation was observed in 3 cases. The time of fluoroscopy was 6.4 +/- 3.3 min. The hole time procedure was 19 +/- 9 min. The delay of hospitalisation was one day in 97% of patients. The decreased cost was about 20%. The patient comfort and the large diffusion of this method predicts a good future of this simplified technique.

[Percutaneous closure of ostium secundum atrial septal defect using an Amplazter device. Report of the first 5 Tunisian cases]. / Fermeture percutanee des communications interauriculaires ostium secundum par amplatzer. A propos des 5 premieres observations tunisiennes.

We report our initial expérience with percutaneous closure of ostium secundum atrial septal defect using Amplatzer device. Between september 2000 and july 2001, five devices were implanted in 5 patients, 4 female and 1 male. Age ranged from 18 to 66 years. A large atrial septal defect with significant shunting was diagnosed by trans thoracic echocardiography. Procedures were performed under general anesthesia with trans esophageal echocardiography guidance. Stretched diameter of atrial septal defects was determined by balloon sizing, ranged from 21 to 32 mm. Amplatzer devices of 20 to 32 mm were respectively deployed. No complications occurred during the procedure. Total occlusion of interatrial communication, was observed in one patient, immediately after the procedure, and in 3 patients 24 hours later. First 3 patients were controlled at months follow up were free of complications. Closure of atrial septal defect with Amplatzer device appears feasible and safe. However, long term results in comparison to surgery remain to be determined before definite conclusion regarding its use can be made.

[Cardiac hydatid cyst (report of 8 cases)]. / L'hydatidose cardiaque (à propos de 8 observations).

Hydatic cardiac cyst (HCC) is a rare anomaly, characterized by wide spectrum of clinical presentations. Its diagnosis took large benefit from echocardiography progress. We aimed in this study to analyse epidemiologic aspect of HCC, as well as its diagnostic data, with special emphasize on echocardiography. Observations of 8 patients, admitted between 1991 and 2000 has been reviewed. Age average was 30 years (13 to 59). Main symptoms consisted of chest pain (62.5%) and dyspnea (35%). Chest X-Rays showed cardiac silhouette anomaly in 4 cases. Electrocardiogram showed sub-epicardical ischemia in 5 patients. HCC diagnosis was established by transthoracic echocardiography in all cases. It was located inside a cardiac chambers (n = 5), the interventricular septum (n = 2), and the pericardium (n = 1). HCC relation with adjacent cardiac structures was well defined by transoesophageal echocardiography performed in 7 cases. All patients underwent surgery with good immediate results. All patients were events free, with a mean follow-up of 25 months.

[Severe pulmonary hypertension in ostium secundum atrial septal defect]. / L'hypertension artérielle pulmonaire sévère au cours des communications interauriculaires type ostium secundum.

Between 1969 and 1999, 149 patients underwent cardiac catheterization for ostium secundum atrial septal defect, in hemodynamics department. Age average was 21.5 +/- 16 years (2-67). Systolic pulmonary arterial pressure average was 35 +/- 15.6 mm Hg (15-140). The atrial septal defect was closed in 108 patients (by surgery in 107 cases, and by interventional catheterization in one case). Mean follow-up was 8 +/- 7 years (1-20). Overall mortality rate was 2.7%. Severe pulmonary hypertension (systolic pressure > or = to 50 mm Hg) was seen in 13.4% of cases. It was present at all ages, but more frequent above 20 years. Obstructive pulmonary vascular disease was noticed in 2% of patients. Clinical and haemodynamic data analysis showed that, severe pulmonary hypertension is a frequent, and unpredictible complication of secundum atrial septal defect; it might occur at any age and worsen considerably the cardiac disease prognosis. Because of atrial septal defect hemodynamic profile, and current rise of percutaneous closure technics, invasive investigation should be more and more routinely performed, in order to define the best therapeutic option. Early and systematic closure of secundum atrial septal defects, should prevent, or at least minimize pulmonary vascular lesions.

[Evolution after 5 years of percutaneous pulmonary valvulotomy: report of 47 cases]. / Evolution a plus de 5 ans de la valvulotomie pulmonaire percutanée: a propos de 47 observations.

47 patients aged from 2 to 59 years affected by valvular congenital or mixed pulmonary stenosis including three fallot trilogies and one patient with right congestive cardiac failure are treated by percutaneous pulmonary valvulotomy between october 1986 and december 1990. All patients have been controlled with a mean follow-up of 6.5 +/- 1.1 years. The total gradient rate between pulmonary artery and right ventricule decrease from 112 +/- 55 mm Hg to 20 +/- 8 mm Hg on the last control with disappearance of infundibular inflammation and inter auricular shunt in all the concerned cases. We observe the regression of right cardiac failure symptoms with disappearance of tricuspid insufficiency in the cases of advanced pulmonary stenosis with right ventricular dysfunction. Percutaneous pulmonary valvulotomy by its simplicity and harmlessness, its long term efficiency is a good method of treatment of pure valvular or mixed pulmonary stenosis.

[Percutaneous mitral commissurotomy: simplified new method]. / La commissurotomie mitrale percutanée: nouvelle méthode simplifiée.

We report a new simplified method of mitral dilatation done on 146 patients. This technique use the Inoue balloon with progressive diameters under ultrasonographic control, avoiding the arterial part of the dilatation. The population include 9 pregnant women, 13 children, 13 with restenosis and closed heart and 12 restenosis after dilatation. Mean age is 32 +/- 16 years (9 to 72) and sex ratio 3.7 (114 F/32 M). Three groups are individualized according to histopathologic exam of mitral structure, group I (26%) concern good indication and III (32%) bad indication for this technique, group II (42%) contain intermediate indications. Commissurotomy increase the mean mitral square for 0.2 to 1.9 +/- 0.1 cm_. We observe 3 cases of chirurgical mitral insufficiency needing remplacement recruited for 2 patients from the group III. Mean fluoroscopic exposition time is 5.2 +/- 3.3 mn and procedure duration 18 +/- 11 mn. Hospitalisation duration is one day for 95% of the patients. This method remaining simple, efficient and safe permit a gain in time of 70% with a good comfort for patient and a return to work on the 4th day.