Sophie Guillaumont

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Secundum-type atrial septal defects (ASDII) account for approximately 10% of all congenital heart defects (CHD) and are associated with a familial risk. Mutations in transcription factors represent a genetic source for ASDII. Yet, little is known about the role of mutations in sarcomeric genes in ASDII etiology. To assess the role of sarcomeric genes in(More)
Nutritional status and chronic pulmonary hyperinflation can alter respiratory muscle function in cystic fibrosis (CF). This study investigated: 1) whether inspiratory muscle function is reduced in children with stable CF in comparison with healthy controls; and 2) the mechanisms leading to inspiratory muscle weakness, which probably predispose to(More)
AIMS The natural history of congenital or childhood non-immune, isolated atrioventricular (AV) block is poorly defined. METHODS AND RESULTS We retrospectively studied 141 children with isolated, non-immune AV block diagnosed in utero, or up to 15 years of age, at 13 French medical centres, between 1980 and 2009. Patients with structural heart disease or(More)
BACKGROUND The origin of congenital or childhood nonimmune isolated atrioventricular (AV) block remains unknown. We hypothesized that this conduction abnormality in the young may be a heritable disease. METHODS AND RESULTS A multicenter retrospective study (13 French referral centers, from 1980-2009) included 141 children with AV block diagnosed in utero,(More)
OBJECTIVES To investigate the clinical profile, natural history, and optimal management of persistent or permanent junctional reciprocating tachycardia (PJRT) in children. METHODS AND RESULTS 85 patients meeting the ECG criteria for PJRT were enrolled in a retrospective multicentre study. Age at diagnosis varied from birth to 20 years (median 3 months).(More)
AIM To compare the haemodynamic status during high-frequency oscillatory ventilation and conventional mechanical ventilation in very preterm infants with respiratory distress syndrome. METHODS Thirty-two neonates of less than 30 wk gestation randomly assigned to high-frequency oscillatory ventilation (n = 15) or conventional mechanical ventilation (n =(More)
BACKGROUND Health-related quality of life (HR-QoL) stands as a determinant "patient-related outcome" and correlates with cardio-pulmonary exercise test (CPET) in adults with chronic heart failure or with a congenital heart disease (CHD). No such correlation has been established in pediatric cardiology. METHODS AND RESULTS 202 CHD children aged 8 to 18(More)
BACKGROUND Although transfusion practice in very premature infants is becoming more restrictive, little is known about myocardial adaptation to anemia during the 1st postnatal week. OBJECTIVES To determine the central hemodynamic effects of anemia and red blood cell transfusion in very preterm infants undergoing intensive care. METHODS Twenty-nine(More)
Nineteen asthmatic boys (aged 13.4 years, 25-75 percentile: 11.5-15.1 years) performed short bouts of maximal exercise (force-velocity test) to test their anaerobic fitness and tolerance of maximal anaerobic exercise. Fourteen healthy boys (aged 13.9 years, 25-75 percentile: 11.6-15.7 years) matched for anthropometric characteristics including lean body(More)
We report the short and mid-term results of the Norwood procedure (Stage one) in 20 patients with hypoplastic left heart syndrome or univentricular heart with aortic obstruction. Seven patients were prenatally diagnosed. Preoperatively there was obstruction to pulmonary venous return in 6 cases, a mild to moderate tricuspid regurgitation in 6 cases, and 11(More)