Double-Chambered Left Ventricle Diagnosed in Fetus and Follow-up During the First Year of Life: A Case Report.

Double-chambered left ventricle (DCLV) is a rare congenital cardiac lesion. It is usually an incidental finding in children and young adults. Diagnosis during fetal life is exceedingly rare. We report a case of DCLV diagnosed in the prenatal period associated with a ventricular septal defect (VSD). Transthoracic echocardiographic and magnetic resonance imaging confirmed the prenatal findings. At seven-month follow-up, the baby was asymptomatic. Transthoracic echocardiographic check-up revealed spontaneous closure of the VSD and stable aspect of the main left ventricle and the accessory chamber.

Paucisymptomatic Tetralogy of Fallot diagnosed in a 56-year-old patient: a case report.

BACKGROUND: Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease. It is generally diagnosed and surgically repaired early in life, with good overall outcomes. CASE PRESENTATION: We report the case of a patient incidentally diagnosed with paucisymptomatic TOF at the age of 56 years old, during investigations for carbon monoxide poisoning. The patient had a history of thyroidectomy, arterial hypertension, and four uncomplicated vaginal deliveries. CONCLUSIONS: This case shows us that some patients with TOF can reach older ages without surgical correction. Late surgical repair should be meticulously decided on a case basis.

[Cardiac abnormalities associated with hyperthyroidism: clinical, structural and rhythmic study]. / Anomalies cardiaques associées à l'hyperthyroïdie : étude clinique, structurelle et rythmique.

INTRODUCTION: The prevalence and nature of cardiac complications associated with hyperthyroidism vary considerably in the literature depending on the population studied and the means of investigation used to detect them. The aim of this study was to determine the structural, functional, and rhythmic cardiac abnormalities associated with hyperthyroidism and to identify their risk factors. METHODS: It is a cross-sectional study conducted in thirty adult patients with overt or subclinical hyperthyroidism. Each patient underwent a clinical cardiovascular examination, a cardiac Doppler ultrasound, a pulmonary ultrasound and a 24-hours rhythm holter. The diagnosis of cardiothyreosis (thyrotoxic heart disease) was retained if an arrhythmia, heart failure (HF) and/or pulmonary arterial hypertension (PAH) were noted following the investigations carried out. RESULTS: The mean age of the patients was 44.8 ± 14.4 years. The sex ratio (M/F) was 0.3. Five patients (17%) had subclinical hyperthyroidism and 25 (83%) had overt hyperthyroidism. Thirteen patients (43%) had cardiothyreosis. It consisted of a rhythm disorder in three patients (10%), PAH in twelve patients (40%) and HF in eight patients (27%). An age over 50 years and toxic nodular etiology were associated with atrial fibrillation (AF), p = 0.041 and p = 0.004 respectively. Tachycardia and a higher number of atrial extrasystoles were associated with HF, p = 0.039 and p = 0.007 respectively. A lower TSH, tachycardia and a higher number of atrial extrasystoles were associated with the presence of PAH, p = 0.004, p = 0.011 and p = 0.007 respectively. CONCLUSION: Cardiac complications should be sought in all patients with hyperthyroidism, especially in elderly and tachycardic patients. Specialized investigations such as echocardiography or 24 hours rhythmic holter should be requested in these cases.

The yield of 24-hour ambulatory electrocardiography in the assessment of symptomatic school-age children.

INTRODUCTION: Lightheadedness, syncope, dyspnea, chest pain, palpitation, loss of consciousness (LOC) or malaise are a frequent reason for consultation in school-age children (SAC). The yield of holter monitoring (HM) in the investigation of these symptoms in SAC is still controversial given the scarce studies. AIM: To determine the prevalence of baseline ECG abnormalities and those detected in HM in SAC, and to assess the predictive factors of abnormal HM test. METHODS: We conducted a retrospective descriptive study in which we had included all the consecutive SAC (6 to 12 years) presenting: syncope or lightheadedness or palpitation, dyspnea, or chest pain, malaise, LOC and referred to our department for HM. RESULTS: We included 366 children. Mean age was 9.7 ± 1.88 years. The major symptoms experienced by the patients were: palpitation (50.7%), chest pain (16.9%), lightheadedness (11.9%), syncope (6.9%), LOC (5.3%), ECG was abnormal in 8.7%. The two most common baseline ECG abnormalities were premature ventricular contractions (PVCs) (1.8%) and right bundle branch block (1.6%). HM was positive in 101 (26.6%) patients. The most common abnormalities in HM were vagal hypertonia in 61 patients (16.1%), PVCs in 29 patients (7.7%), Malignant abnormalities were encountered in 16 patients (13.9%) whereas benign abnormalities in 99 patients (86.1%). In the multivariate analysis: Age≥10 years, mean heart rate <94 beats per minute, the presence of syncope, LOC, malaise and the presence of PVCs in baseline ECG were identified as independent risk factors of abnormal holter. CONCLUSION: HM has an important diagnostic value in symptomatic SAC. It allows the identification of benign as well as malignant arrhythmias, which require urgent management.

Molecular autopsy and clinical family screening in a case of sudden cardiac death reveals ACTN2 mutation related to hypertrophic/dilated cardiomyopathy and a novel LZTR1 variant associated with Noonan syndrome.

BACKGROUND: Genetic cardiac diseases are the main trigger of sudden cardiac death (SCD) in young adults. Hypertrophic cardiomyopathy (HCM) is the most prevalent cardiomyopathy and accounts for 0.5 to 1% of SCD cases per year. METHODS: Herein, we report a family with a marked history of SCD focusing on one SCD young adult case and one pediatric case with HCM. RESULTS: For the deceased young adult, postmortem whole-exome sequencing (WES) revealed a missense variant in the ACTN2 gene: c.355G > A; p.(Ala119Thr) confirming the mixed hypertrophic/dilated cardiomyopathy phenotype detected in the autopsy. For the pediatric case, WES allowed us the identification of a novel frameshift variant in the LZTR1 gene: c.1745delT; p.(Val582Glyfs*10) which confirms a clinical suspicion of HCM related to Noonan syndrome. CONCLUSION: The present study adds further evidence on the pathogenicity of ACTN2: p. Ala119Thr variant in SCD and expands the mutational spectrum of the LZTR1 gene related to Noonan syndrome.

Fetal Persistent junctional reciprocating tachycardia : a diagnostic and a therapeutic challenge.

A mother presented with a fetus at 22±1 weeks of gestation with a sustained supraventricular tachycardia  (SVT) at initially 186 beat per minute (bpm). The fetal M-mode echocardiography showed a 1/1 atrio ventricular ratio (with short atrioventricular (AV) interval and a long ventriculo-atrial (VA) interval, suggesting a Persistent junctional reciprocating tachycardia (PJRT) . Upon  initial present no signs of heart failure or hydrops  were noted and treament was initiated with amiodarone and  digoxin . Fetus heart rate slowed  .Postnatal electrocardiogram  Confirmed  the diagnosis of PJRT New born was put on amiodarone and proparonal). Sinus rhythm was rapidly achieved 9 days later .The patient doing well at  10 months of age with maintain of sinus rhythm. Conclusion: our case report illustrates  a particular  form of  JRT   diagnosed  prenatal PJRT  , characterized  by  a good clinical tolerance, its absence of evolution towards cardiomyopathy  and its rapid and unusual response to antiarrhythmics.

Acute ischemia of the lower limb on ECMO: risk factors and preventive modalities.

The acute ischemia of the lower limb on the veno-arterial Extracorporeal Membrane Oxygenation (ECMO) is a frequent and dangerous complication that can put the vital and functional prognosis at risk. Several risk factors have been incriminated and the lack of a sufficient distal perfusion is the most common. We report the case of an 11-year-old girl with veno-arterial ECMO for acute myocarditis complicated by severe acute lower limb ischemia.

Particularities of neonatal isthmic aortic coarctation (A Tunisian study).

METHODS: This is a retrospective study including 47 patients with isthmic coarctation (CoA) diagnosed in ante et postnatal périod, hospitalized in pediatric cardiology departement of la Rabta Hospital-Tunisia during the period from 2000 to 2017. RESULTS: They were 36 girls and 11 boys with an average age of 14 days. The diagnosis of CoA was suspected during the anténatalperiod in eight cases. In postnatal period heart failure was observed in (38.5%), abolition of femoral pulse (74%), a tension asymetry was found in all patients. Antenatal echocardiography suspected indicators of fetal coarctation especially ventriculo-arterial asymmetryechocardiography confirmed the diagnosis of CoA ,The ejection fraction was impaired in 31% of the cases.The abnormalities associated with coarctation were dominated by the patent ductus arteriosus (68%), atrial septal defect (55.5%), aortic hypoplasia, bicuspidia in respectively in 34% and 31% coarctation syndrome in (23.4%). Prostaglandin wasneccessary in (89.3%). forty two patients were operated with good immédiaterésults. the early postoperative mortality was 12.5%. In the long term, we deplored two late deaths, six cases of recoarctation with a follow-up of 14 months treated by percutaneous angioplasty with a result considered good in all cases. CONCLUSION: Coarctation of the aorta in neonates is a special form of aorticcoarctaion that differs from the child and adult forms in clinical, echocardiographic, and therapeutic characteristics . His clinical diagnosis must be early, if possible in antenatal , to asssure optimal management.

Cardiomyopathy induced by incessant ventricular tachycardia originating in the vicinity of the His bundle.

A 04-year-old boy was referred to our institution with severe, progressive heart failure of 4-months duration associated with a persistent wide QRS tachycardia with left bundle branch block and severe left ventricular dysfunction. Because of incessant wide QRS tachycardia refractory to antiarrhythmic drugs, he was referred for electrophysiological study. The ECG was suggestive of VT arising from the right ventricle near the His area. Electrophysiological study revealed that origin of tachycardia was septum of the right ventricle, near His bundle, however the procedure was not successful and an inadvertent complete atrioventricular conduction block occurred. The same ventricular tachycardia recurred. A second procedure was performed with a retrograd aortic approach to map the left side of the interventricular septum. The earliest endocardial site for ablation was localized in the anterobasal region of left ventricle near His bundle. In this location, one radiofrequency pulse interrupted VT and rendered it not inducible. The echocardiographic evaluation showed partial reversal of left ventricular function in the first 3 months. The diagnosis was idiopathic parahisian left ventricular tachycardia leading to a tachycardia mediated cardiomyopathy, an extremely rare clinical picture in children.

Giant aortic arch aneurysm complicating Kawasaki's disease.

Kawasaki disease (KD) is a common acute vasculitis in pediatric population that usually involves small- and middle-sized arteries, commonly coronary arteries. Although the incidence and natural course of coronary aneurysms after KD are well documented in studies, related reports on peripheral arterial and aortic aneurysms are scarce. We report the occurrence of a giant aortic aneurysm involving the horizontal part of aortic arch in a 28-month-old boy diagnosed with KD. This complication was managed by steroids therapy in the beginning. Because of mechanical complication and potential risk of rupture, surgery was undertaken.

[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.

Clinical and genetic investigation of pediatric cases of Wolff-Parkinson-White syndrome in Tunisian families.

BACKGROUND: Wolff-Parkinson-White (WPW) syndrome is an autosomal-dominant heart disease characterized by an accessory pathway that arises from an aberrant conduction from the atria to the ventricles. Several mutations within the PRKAG2 gene were shown to be responsible for WPW. This gene encodes the γ2 regulatory subunit of adenosine monophosphate (AMP)-activated protein kinase, which functions as a metabolic sensor in cells, responding to cellular energy demands. METHODS: This first study of WPW in a North African population comprises the clinical and genetic investigation of 3 Tunisian families, including 11 affected members. The involvement of the PRKAG2 and NKX2-5 genes was investigated. RESULTS: Mutation screening showed that with the exception of two already reported single-nucleotide polymorphisms, no mutations were detected within the coding region of PRKAG2 or in the NKX2-5 gene. CONCLUSIONS: This study provides further evidence of the genetic heterogeneity of WPW.

Association of ACE I/D polymorphism in Tunisian patients with dilated cardiomyopathy.

Primary cardiomyopathies are multifactorial diseases. Genetic factors other than the causal mutations in the modified genes affect the phenotypic expression of dilated cardiomyopathy. The aim of this study was to determine the association of angiotensin-converting enzyme I/D polymorphism with the risk of dilated cardiomyopathy in a Tunisian population. A total of 76 patients with dilated cardiomyopathy was compared to 151 ethnically, age- and gender-matched controls. The frequencies of the DD genotype and D allele were significantly higher in patients as compared with controls, and were associated with increased risk of dilated cardiomyopathy (ACE DD versus ID and II: OR = 3.05 (95% CI, 1.58-5.87; p = 0.001)); D versus I: OR = 2 (95% CI: 1.35-2.97; p = 0.001)). No association was found between the combined genotypes (DD+ID) or D allele and left ventricular end diastolic diameter in dilated cardiomyopathy patients with severe and moderate clinical phenotypes. DD genotype and D allele of angiotensin-converting enzyme I/D gene polymorphism are associated with increased risk of dilated cardiomyopathy in a Tunisian population but do not influence the cardiac phenotype severity.

[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.

[Anatomic repair of transposition of the great arteries or arterial switch operation. Report of 62 cases]. / La reparation anatomique de la transposition des gros vaisseaux ou switch arteriel. A propos de 62 cas.

Between January 1990 and September 2003, 62 patients underwent anatomic repair of a transposition of the great arteries. Mean operative age is 40 days. Transposition of the great arteries was simple in 38 cases and associated to a large ventricular septal defect in 24 cases. 44 patients have had an atrial septostomy of Rashkind and 45 an infusion of prostaglandin E 1.5 patients with simple transposition of the great arteries have had left ventricular retraining before arteriel switch. In association to arterial switch, were performed closure of ventricular septal defect in 24 cases, cure of coarctation of the aorta in 4 cases and cure of an abnormal partial pulmonary venous return in 1 case. Early mortality was 6,45%. After a mean follow up of 3 years, one patient died suddenly (late mortality is 1.72%) and one patient had to have 2 reoperations. Results of anatomic repair are now excellent. Late mortality is essentially related to coronary complications so that a careful follow-up is mandatory.

[Atrial flutter in neonates and infants: diagnosis and treatment]. / Flutter auriculaire du nouveau-né et du nourisson: diagnostic & traitement.

Between 1995 and 2002, 5 patients with a mean age of 32 years have been treated for atrial flutter in the Department of Paediatric Cardiology at Hospital La Rabta. In all cases, diagnosis was established on surface electrocardiogram (12 leads. All patients had a normal heart. The 3 infants were in heart failure and In the 2 neonates, the arrhythmia was well tolerated despite a very fast ventricular rate. Reduction of the first episode of atrial flutter was possible by cardioversion in 3 patients, 2 of them had a good impregnation with Amiodarone. The two neonates died at 8th and 10th day of life. In the long term follow-up, on infant presented two recurrent episodes at 4 months x 2 years. Atrial flutter, when diagnosed in neonatal period is a rare but serious rhythm disturbance. The mechanism of activation of this rhythm disturbance remains unknown in the foetus, neonate and infant.