Cardiac events in Costello syndrome: One case and a review of the literature.

Costello syndrome is a rare syndrome associated with de novo mutations in the HRAS gene. It is mostly revealed during in the first months of life by growth retardation, facial dysmorphic features, skin and cardiac abnormalities and subsequent cognitive deficit of varying severity. We report a case of Costello syndrome in a 3-month-old infant. The initial cardiac investigations were normal except frequent premature atrial complexes. After few months, worsening arrhythmia with bursts of ventricular tachycardia were noted as well as the secondary progressive obstructive left ventricular hypertrophic cardiomyopathy (HCM). Cardiac involvement is determinant for the prognosis of Costello syndrome. It frequently consists of hypertrophic cardiomyopathy (one third of patients), with involvement of the left ventricle in half of the cases. It is often asymmetrical and associated with obstruction of the outflow recalling family hypertrophic cardiomyopathy. The natural history of HCM in Costello syndrome and its management remains poorly known because of paucity of reported cases. Progression of the HCM can be very rapid like the reported case. On the other hand, the spontaneous regression of the HCM in some patients has been reported. In addition, cardiac threatening arrhythmias may be noted. So that, cardiac assessment and monitoring with regular echocardiography and electrocardiogram follow up is mandatory.

[Circular shunt in the severe neonatal form of Ebstein's Anomaly. The prostaglandine infusion is it beneficial or harmful?] / Le shunt circulaire dans la forme néonatale sévère de la maladie d'Ebstein : effet bénéfique ou délétère des prostaglandines?

Ebstein's disease with functional pulmonary atresia is a severe neonatal presentation of Ebstein's anomaly where the therapeutic management is typically based on the prescription of prostaglandins. The circular shunt is a serious "hemodynamic" complication which is often undiagnosed leading to the discontinuation of prostaglandins. We report a severe neonatal form of Ebstein's anomaly with hemodynamic deterioration relatted to a circular shunt. The diagnosis of Ebstein's anomaly with functional pulmonary atresia was made prenatally at 36 weeks of pregnancy. The patient was born at 38 weeks of gestation by caesarean section. Postnatal ultrasound confirmed the diagnosis. Treatment with prostaglandins was originally created to maintain the vital ductus arteriosus patent. Despite this treatment, hemodynamic deterioration was observed. Ultrasound monitoring showed pictures for a circular shunt. Indeed, blood coming into the pulmonary artery by the wide ductus arteriosus, was "drawn" to the right ventricle and the right atrium due to tricuspid regurgitation and from there to the left heart via the fossa ovalis shunting right to left, when it was ejected into the aorta and the ductus arteriosus. Before this circular shunt, treatment with prostaglandin was discontinued and treatment to reduce pulmonary resistance was described. However, the patient died prior to initiation of treatment. The neonatal form of Ebstein's anomaly is a severe form that can be complicated by a circular shunt. This hemodynamic phenomenon encourages early closure of the ductus arteriosus against indicating the prescription of prostaglandins.

[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.

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.

A novel mitochondrial DNA tRNAIle (m.4322dupC) mutation associated with idiopathic dilated cardiomyopathy.

We identified a novel heteroplasmic mitochondrial DNA (mtDNA) (m.4322dupC) mutation in tRNA gene associated with isolated dilated cardiomyopathy (DCM) as maternal trait. Mutation screening techniques and automated DNA sequencing were performed to identify mtDNA mutations and to assess heteroplasmy in family's proband and healthy control subjects. All family members tested had heteroplasmic mtDNA m.4322dupC mutation. We also screened 350 normal controls for this mutation and found no evidence of heteroplasmy. The m.4322dupC mutation was found in the skeletal tissue from the proband that exhibited slightly reduced deficiency of mitochondrial respiratory chain enzymes (complex III). The present study reports the novel m.4322dupC mutation in tRNA gene, which is possibly associated to the disease, to isolated DCM. It was localized in a hot-spot region for mutations and is possibly pathogenic because of a cosegregation with the matrilineal transmission of DCM.

[Large ostium secundum atrial septal defect discovered after severe mitral regurgitation. A case report]. / Large communication interauriculaire ostium secundum revelee par une fuite mitrale volumineuse. A propos d'une observation.

UNLABELLED: Mitral regurgitation is associated with ostium secundum atrial septal defect in about 22% of cases. mitral valve prolapse induced by atrial shunt is the main cause of this regurgitation. Ususually, atrial septal defect discovery precedes that of mitral regurgitation. The aim of this paper is to focus on clinical, hemodynamic and evolutive details of atrial septal defect and mitral regurgitation association. We report the case of large atrial septal defect in 37 years old girl referred for hemodynamic investigation of mitral regurgitation. The divergence of clinical data, electrocardiogram and echocardiography findings has led to atrial septal defect discovery. Hemodynamic data showed severe pulmonary arterial hypertension (medium pulmonary arterial pressure: 45 mmhg). Hence, mitral valve substitution by mechanical prosthesis and closure of atrial septal defect have been carried out. Ten hours after surgery, death occurred because of severe pulmonary arterial hypertension and heart failure. CONCLUSION: Association of severe mitral regurgitation and large ostium secundum atrial septal defect is an original anatomo-clinic entity caracterized by mitral valve lesions diversity and severe secondary pulmonary arterial hypertension. Danger of such a hypertension is due to progressive and infra clinical rise of pulmonary resistances and association of increased pulmonary blood flow and capillary pulmonary hypertension.

[Pulmonary hypertension in sickle cell anemia. A case report]. / L'hypertension artérielle pulmonaire dans la drépanocytose. A propos d'une observation.

We report the case of a 33-years-girl with SCA and severe PH. She developed six month before admission, non productive cough and dyspnea. Physical examination at admission revealed shortness of breath and right heart ventricular failure. Electrocardiography showed sinus rhythm and an incomplete left bundle branch block. Chest roentgenography revealed cardiomegaly with cardiothoracic index at 0.66 and pulmonary infiltrates. Laboratory tests revealed an anemia with hemoglobin of 7.1 g/dl, white blood cell count of 12,500/mm, moderate renal failure (cretininemia = 178 mumol/l) and hypoxemia with oxygen pressure of 60 mmHg. Hemoglobin electrophoresis revealed on heterozygous SCA. Echocardiography revealed dilatation of right heart cavities and a systolic pulmonary artery pressure of 60 mmHg. A perfusion lung scintigraphy demonstrated multiple subsegmental perfusion defects. PH is a common complication of adult patients with SCA. Appropriate therapies and strategies for prevention of PH in SCA are unknown. Further research exploring therapies such as oxygen, nitric oxide, prostacyclin and hydroxyurea are indicated.

[Coronary-pulmonary arterial fistula in the adult: report of 6 cases and review of the literature]. / Les fistules coronaro-pulmonaires de l'adulte: a propos de 6 observations et revue de la littérature.

Six new patients and 33 previously reported with coronary-to-pulmonary artery fistula were reviewed. The mean age at the time of diagnosis was 51 years. A male predominance was found (65%). Angina was the most common symptom. The artery mostly involved was the left anterior descending coronary artery and the fistula drained more often to the main pulmonary artery. The left-to-right shunt is small in the majority of patients and the associated significant coronary artery disease was detected in 18% of cases. Good results of surgical closure of the fistula are usually obtained. An alternative to surgical treatment is percutaneous transcatheter embolization of coronary artery fistulas.

[Cardiac retrograde arterial catheterization in children under 2 years of age. Indications, techniques and complications]. / Le catheterisme cardiaque par voie arterielle retrograde chez le nourrisson de moins de 2 ans. Indications, techniques et complications.

Thirty children (15 males and 15 females) under 2 years of age (mean age 14 +/- 6 months, range 1 to 24 months, mean weight was 8.3 +/- 2.5 kg) underwent diagnostic cardiac percutaneous femoral arterial and venous catheterization for congenital heart disease. The anticoagulation with heparin was not given in any patient. Appropriate arterial sheath varying from 4F to 5F were used for catheterization. The mean duration of the exploration was 38 +/- 16 mn. The mean duration of the left heart exploration was 9.5 +/- 2.5 mn. There were no hemorrhagic or ischemic complications in this series.

[Percutaneous closure of interatrial ostium secundum defects using the Amplatzer device. Apropos of the initial 5 Tunisian cases]. / Fermeture percutanee des communications interauriculaires ostium secundum par Amplatzer. A propos des 5 premieres observations Tunisiennes.

We report our initial experience 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.

[Single coronary artery. A case report]. / Artere coronaire unique. A propos d'un cas.

The authors report the case of a patient undergoing coronary angiography for an inferior myocardial infarction related with atherosclerosic lesions but associated with a rare anomalous origin of all three coronary arteries from single ostia in the left sinus of valsalva.

[Transradial approach for coronary angiography and angioplasty]. / L'approche trans-radiale de la coronarographie et de l'angioplastie coronaire.

The transradial approach of coronary angiography and angioplasty is now become a good alternative to the femoral approach in patients with normal Allen test results, because low rate of access site complication, improved patient comfort and early ambulation. This approach is particularly interesting in obese patients, aortoiliac disease or in patients under anticoagulation treatment or thrombolytics.

[False left ventricular aneurysm: report of 5 cases]. / Faux anevrysme du ventricule gauche: a propos de 5 observations.

Between 1972 and 2000, left ventricular false aneurysm was diagnosed in 5 patients. These patients consisted of three man and 2 women, aged between 58 and 70 years. Clinical presentation was characterized by severe heart failure, complicating a posterior myocardial infarction, in 4 patients. Left ventricular angiography, has confirmed the false aneurysm in all patients. Three patients underwent surgical management, with good result in 2 cases (follow-up of 9 and 13 years), and an early postoperative death in one case. Two patients refused surgery and died suddenly. Ischemic myocardial disease, represent the most frequent etiology. Left ventricular false aneurysm prognosis should be improved by emergent surgical management, preventing fatal rupture.

[Immediate and mid-term results of balloon valvuloplasty in congenital aortic stenosis. Ten case reports]. / Résultats immédiats et à moyen terme de la dilatation aortique par ballonnet dans le rétrécissement aortique valvulaire congénital. A propos de 10 observations.

From 1987 to 2000, 10 patients aged 0.5 to 20 years with congenital valvular aortic stenosis underwent percutaneous balloon aortic valvuloplasty. In one patient, balloon valvuloplasty was unsuccessful, this patient had acute artery thrombosis requiring surgical intervention. Hemodynamically successful dilatation was achieved in 9 patients. The peak systolic pressure gradient was reduced from 76 +/- 35 to 32 +/- 16 mmHg (p < 0.001). Aortic valve regurgitation on angiography appeared or increased in 2 patients (up to grade 2 in the 2 patients). There was no deaths during the procedure. Follow-up was available in 7 patients One patient died during the follow up period. Restenose was found in only one patient 5 years after valvuloplasty and the efficacy balloon aortic valvuloplasty continued significantly in 5 patients (mean follow-up 35 +/- 18 months) with a residual aortic valvular gradient of 34 +/- 15 mmHg.

[Stratification of cardiac risk in unstable angina: value of troponin measurements]. / Stratification du risque cardiaque dans l'angor instable intérêt du dosage de la troponine.

Recent studies have identified patients with unstable angina and increased troponin I or T as a high risk population gaining benefit from adjunctive treatment with glycoprotein IIb/IIIa receptor antagonists and early reperfusion by coronary interventions.