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OBJECTIVES The aim of this study was to describe a new familial cardiac phenotype and to elucidate the electrophysiological mechanism responsible for the disease. BACKGROUND Mutations in several genes encoding ion channels, especially SCN5A, have emerged as the basis for a variety of inherited cardiac arrhythmias. METHODS Three unrelated families(More)
BACKGROUND The pathophysiological background of catecholaminergic polymorphic ventricular tachycardia is well understood, but the clinical features of this stress-induced arrhythmic disorder, especially the incidence and risk factors of arrhythmic events, have not been fully ascertained. METHODS AND RESULTS The outcome in 101 catecholaminergic polymorphic(More)
BACKGROUND Studies have shown that the presence of left atrial (LA) fibrosis can be assessed by LA delayed-enhancement cardiac magnetic resonance (LA DE-CMR) and may be predictive of outcome after ablation for atrial fibrillation (AF). We sought to test the hypothesis that the amount of LA fibrosis evaluated by DE-CMR correlates with the difficulty of(More)
BACKGROUND Cardiac neonatal lupus syndrome is due to anti-SSA or SSB antibodies and mainly includes congenital heart block (CHB) and dilated cardiomyopathy (DCM). Its optimal management is still debated. We report a large series of autoimmune high degree CHB. METHODS Inclusion criteria in this retrospective study were fetuses or neonates with high-degree(More)
OBJECTIVE Left ventricular mechanical dyssynchrony has been poorly studied in the pediatric population with dilated cardiomyopathy. We investigated the degree of dyssynchrony in children with dilated cardiomyopathy using tissue Doppler imaging and speckle tracking strain. METHODS Twenty-five children with dilated cardiomyopathy were compared with healthy(More)
Neonatal lupus syndrome is associated with transplacental passage of maternal anti-SSA/Ro and anti-SSB/La antibodies. Children display cutaneous, hematological, liver or cardiac features. Cardiac manifestations include congenital heart block (CHB); endocardial fibroelastosis and dilated cardiomyopathy. The prevalence of CHB in newborns of anti-Ro/SSA(More)
The etiology of congenital heart defect (CHD) combines environmental and genetic factors. So far, there were studies reporting on the screening of a single gene on unselected CHD or on familial cases selected for specific CHD types. Our goal was to systematically screen a proband of familial cases of CHD on a set of genetic tests to evaluate the prevalence(More)
Propionic acidemia is an inborn deficiency of propionyl-coenzyme A (CoA) carboxylase activity, which leads to mitochondrial accumulation of propionyl-CoA and its by-products. Neurologic complications are frequent, but only a few cases presenting with psychiatric symptoms have been reported so far. We report 2 cases of children with chronic psychiatric(More)
Atrioventricular septal defects are commonly diagnosed during fetal life. Postnatal prognosis of atrioventricular septal defects associated with trisomy 21 and with heterotaxia sequences are relatively well known. However, predicting postnatal outcome in fetus with atrioventricular septal defects and normal chromosome and normal atrial situs remains a(More)