Echocardiographic study of cardiac rhabdomyomas from fetuses to children: about a tunisian hospital experience

Aim was to report our experience with regard to patients with cardiac rhabdmyomas , focusing on echocardigraphic finding ,cardiac outcome and management Methods Patients with cardiac rhabdomyomas diagnosis were retrospectively analyzed. during the period betwen 2000 and 2017 . Résults A total of 17 rhabdomyomas were diagnosed .seven patients were detected prenatally, six patients in the neonatal period and four patient in early infancy. , Tumors were mostly localized in the left ventricle (15/17) , their size ranged from 13*10mm to 55*40mm and it was obstructive in 7 cases. . The tumors were singular in 8 patients and multiple in 9 . We diagnosed tuberous sclerosis (TSC) in 9 babies. we reported 4 deaths , three patients required surgery because of hemodynamic obstruction in two cases and resistant arrythmias in one baby . after a follow up of 45 months , . 5 patients had marked tumor regression and 9 had complete tumor regression ConCLUSION Cardiac rhabdomyoma may have different presentations and clinical course.it thought to be a benign tumor which tend to a spontaneous regression Surgery is only necessary when hemodynamically significant obstruction is present or resistant arrythmia . As these tumors are associated with long-term development of TSC a follow-up was mandatory

Anomalous origin of the right coronary artery from the pulmonary artery. Two case reports

Anomalous origin of the right coronary artery originating from the pulmonary trunk (ARCAPA) is a rare but potentially fatal anomaly. We are presenting two cases of ARCAPA and reviewing the main previous published data on this lesion. The first patient presented at the age of 5 months with respiratory distress and severe chest infection. He was found to have heart murmur and cardiomegaly on chest X ray. Echocardiographic and angiographic data confirmed an ARCAPA associated to a large malalignment ventricular septal defect and distal pulmonary artery aneurysms. He underwent surgical closure of the ventricular septal defect and reimplantation of the ARCAPA on the aorta with good result. The second case is an 11 year old male patient, complaining of dizziness and chest pain on exertion. Echocardiographic and angiographic data confirmed ARCAPA associated to a valvular pulmonary stenosis. He was operated on successfully. He got also direct reimplantation of the anomalous coronary artery on the aorta and a pulmonary valve commissurotomy. An anomalous origin of the right coronary artery is a rare condition but may lead to myocardial ischemia and sudden death. Diagnosis is mainly made by echocardiography and confirmed by conventional coronary arteriography. Operative correction is the appropriate treatment for an anomalous coronary artery arising from the pulmonary trunk

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

International audienceBACKGROUND: 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

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. Keywords: Parahisian ventricular tachycardia, Tachycardia mediated cardiomyopathy, Radiofrequency catheter ablation, Childre

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

Data_Sheet_1_Oxidative stress markers-driven prognostic model to predict post-discharge mortality in heart failure with reduced ejection fraction.docx

BackgroundCurrent predictive models based on biomarkers reflective of different pathways of heart failure with reduced ejection fraction (HFrEF) pathogenesis constitute a useful tool for predicting death risk among HFrEF patients. The purpose of the study was to develop a new predictive model for post-discharge mortality risk among HFrEF patients, based on a combination of clinical patients’ characteristics, N-terminal pro-B-type Natriuretic peptide (NT-proBNP) and oxidative stress markers as a potentially valuable tool for routine clinical practice.Methods116 patients with stable HFrEF were recruited in a prospective single-center study. Plasma levels of NT-proBNP and oxidative stress markers [superoxide dismutase (SOD), glutathione peroxidase (GPX), uric acid (UA), total bilirubin (TB), gamma-glutamyl transferase (GGT) and total antioxidant capacity (TAC)] were measured in the stable predischarge condition. Generalized linear model (GLM), random forest and extreme gradient boosting models were developed to predict post-discharge mortality risk using clinical and laboratory data. Through comprehensive evaluation, the most performant model was selected.ResultsDuring a median follow-up of 525 days (7–930), 33 (28%) patients died. Among the three created models, the GLM presented the best performance for post-discharge death prediction in HFrEF. The predictors included in the GLM model were age, female sex, beta blockers, NT-proBNP, left ventricular ejection fraction (LVEF), TAC levels, admission systolic blood pressure (SBP), angiotensin-converting enzyme inhibitors/angiotensin receptor II blockers (ACEI/ARBs) and UA levels. Our model had a good discriminatory power for post-discharge mortality [The area under the curve (AUC) = 74.5%]. Based on the retained model, an online calculator was developed to allow the identification of patients with heightened post-discharge death risk.ConclusionIn conclusion, we created a new and simple tool that may allow the identification of patients at heightened post-discharge mortality risk and could assist the treatment decision-making.</p