[Natural course of an aortic coarctation in a child]. / Évolution naturelle d'une coarctation de l'aorte de l'enfant.

Aortic coarctation is a frequent congenital heart disease that presents in form of two entities, the infant type and the child or adult type. The infant type is the most frequent and manifests acutely by heart failure or shock. The second one shows a slow and progressive course with no or few initial symptoms. For that reason, the diagnosis is usually missed until symptomatic arterial hypertension or hypertrophic cardiomyopathy develop. We report the case of an initially asymptomatic boy in whom the development of an aortic coarctation could be precisely documented over a period of 10 years by repeated bidimensional and Doppler echocardiography. The patient underwent successful balloon angioplasty of the aortic isthmus and stent implantation. This case points out the importance of strict follow-up in any young child in whom an even mild anomaly of the aortic arch is detected. This is critical in order not to miss an aortic coarctation that influences significantly morbidity in adulthood.

La coarctation de l'aorte est une cardiopathie fréquente qui se présente sous deux formes distinctes, celle du nourrisson et celle du grand enfant ou de l'adulte. La première, plus fréquente, se manifeste de façon aiguë par une défaillance cardiaque, voire un choc cardiogénique alors que la seconde est d'évolution lente et paucisymptomatique. Pour cette raison, elle reste habituellement méconnue jusqu'à l'apparition d'une hypertension artérielle ou d'une cardiomyopathie hypertrophique symptomatique. Nous rapportons le cas d'un garçon présentant initialement des structures aortiques de petit calibre chez qui l'évolution d'une coarctation de l'aorte a pu être documentée de façon précise sur une période de 10 ans. L'échocardiographie bidimensionnelle et Doppler répétée a permis de montrer le développement de la sténose de l'isthme aortique alors que le patient ne présente pas de signes d'appel cliniques. Il bénéficiera de l'angioplastie au ballon de l'isthme aortique et de la mise en place d'un stent. Ce cas met en avant l'importance d'un suivi rigoureux des patients chez qui une anomalie, même très légère, de l'arc aortique est mise en évidence dans la petite enfance de façon à ne pas méconnaître une coarctation de l'aorte qui conditionne la morbidité de l'adulte de façon significative.

Growing up with Idiopathic Pulmonary Arterial Hypertension: An Arduous Journey.

Idiopathic pulmonary arterial hypertension (IPAH) is an uncommon and severe disease. We report the case of a 7-year-old boy investigated for cardiac murmur and exercise intolerance. Pulmonary hypertension (PH) was suspected at clinical examination and confirmed by echocardiography and cardiac catheterization. This case of pulmonary hypertension was classified as idiopathic given the negative etiological investigation. Vasoreactive testing with oxygen and nitric oxide was negative. Therefore, treatment with sildenafil (1.4 mg/kg/d) and bosentan (3 mg/kg/d) was initiated. This allowed the stabilization of, but not a decrease in, pulmonary artery pressure for the next 5 years, during which the patient's quality of life was significantly reduced. At a later follow-up, the estimated pulmonary pressure was found to have increased and become supra-systemic, with a consequent deterioration in the child's condition. This led to the decision to enter him into a clinical trial that is still ongoing. Idiopathic pulmonary arterial hypertension is a severe disease that can present with non-specific symptoms, such as asthenia and exercise limitation, which are important not to trivialize. The disease is associated with significantly decreased quality of life in affected children and carries a high burden in terms of mortality and morbidity. The current knowledge about IPAH in children is reviewed, with a particular focus on the future prospects for its treatment and the related quality of life of patients.

[Complex congenital heart disease : about a case of Noonan syndrome]. / Cas clinique. Cardiopathie congénitale complexe : à propos d'un cas de syndrome de Noonan.

We present the case of a young girl in whom pre-natal echocardiography showed double outlet right ventricle associated with severe infundibular- and pulmonary valve stenosis. The genetic testing has shown a mutation on the LZTR1 gene, which confirms the diagnosis of a Noonan Syndrome, also present in the mother and an elder sister. The infant was born premature at 34 weeks and 5 days of gestational age. During the neonatal period, feeding difficulties are noted linked to oral aversion and exacerbated by difficulties in the mother-child bond. At 1 month of age, the child presented hypoxic spells caused by the infundibular stenosis which required emergency aorto-pulmonary anastomosis placement ensuring sufficient pulmonary blood flow. This anastomosis needed to be replaced by a larger one at 9th month of age. The child is now 4 years old and has undergone a complete surgical correction. The multidisciplinary management englobes not only follow up in cardiology, genetics, neurology, ophthalmology and hematology but also feeding support and psychomotor development support. The socio-economic precariousness of the family leads to a constant assistance to allow the best possible development of the child.

Nous présentons le cas d'une fillette chez qui le diagnostic de cardiopathie congénitale de type ventricule droit à double issue avec communication interventriculaire, sténose infundibulaire et valvulaire pulmonaire sévères a été posé en période fœtale. Le bilan génétique a montré la présence d'une mutation du gène LZTR1, confirmant le diagnostic d'un syndrome de Noonan que présentent également la maman et une sœur aînée. L'enfant naît prématurément à 34 semaines et 5 jours d'aménorrhée. La période néonatale est marquée par des difficultés alimentaires liées à des troubles de l'oralité exacerbés par un attachement mère-enfant compromis. à l'âge de 1 mois, l'enfant présente des malaises hypoxiques en raison de la sténose infundibulaire nécessitant la mise en place en urgence d'une anastomose aorto-pulmonaire assurant un débit pulmonaire suffisant, anastomose qui devra être remplacée par une plus large à l'âge de 9 mois. La fillette actuellement âgée de 4 ans vient de bénéficier d'une cure chirurgicale complète. Le suivi multidisciplinaire comprend, outre les suivis cardiologique et génétique, le support à l'alimentation entérale, le suivi neurologique, ophtalmologique et hématologique ainsi que le soutien à la psychomotricité. La précarité psycho-socio-économique familiale nécessite une aide constante pour permettre à l'enfant d'évoluer favorablement dans son milieu familial.

Cerebral Seizures in an Adolescent with Jervell and Lange-Nielsen Syndrome: It May Not Be Epilepsy.

A 13-year-old girl with Jervell and Lange-Nielsen syndrome associated congenital long QT syndrome (LQTS) and central deafness was admitted for generalized seizures. LQTS had been diagnosed after birth and confirmed at genetic testing. ß-blocker treatment was immediately started. Despite this, since the age of 12 months, recurrent cerebral seizures occurred leading to the diagnosis of epilepsy. Anti-convulsive therapy was initiated but without success. At the last admission, nadolol dosage seemed infratherapeutic. Considering malignant ventricular arrhythmias as the cause of seizures, the ß-blocker dosage was adjusted to weight and levels of magnesium and potassium optimized. Furthermore, the patient received an implantable Medtronic Reveal LINQ Recorder®. Since then, the adolescent has been asymptomatic with no arrhythmia documented. LQTS is due to one or more mutations of genes coding for ion channels. It may induce malignant ventricular arrhythmias and is a major cause of sudden cardiac death in children. Generalized cerebral seizures are extra-cardiac manifestations caused by decreased cerebral perfusion during ventricular arrhythmia. They are commonly misinterpreted as manifestations of epilepsy. For any patient with known or unknown LQTS who presents seizures with resistance to anti-convulsive therapy, a cardiac electrophysiological investigation should be performed promptly to ensure etiological diagnosis and optimize treatment.

Contribution of imaging modalities to eosinophilic myocarditis diagnosis: a case report.

Background: Eosinophilic myocarditis (EM) is a relatively rare form of myocarditis that could progress to restrictive cardiomyopathy and might be fatal if left untreated. Although myocardial biopsy is considered to be the gold standard for the diagnosis of myocarditis, its use in paediatrics remains controversial and not easily applicable in routine practice. Case summary: A 10-year-old girl with no prior medical history presented to the emergency department for fever, odynophagia, and gastrointestinal symptoms despite 48 h of antibiotics (Cefaclor). Physical examination revealed diffuse petechiae and abdominal tenderness but was otherwise unremarkable. Her vital signs were normal. She was found to have hypereosinophilia and increased cardiac markers on laboratory testing. Echocardiography showed diffuse left ventricular (LV) myocardial infiltrates, moderate LV dilatation, and mild systolic dysfunction. Bone marrow biopsy confirmed B cell acute lymphoblastic leukaemia. The diagnosis of EM was made. High doses of steroids and chemotherapy were initiated. Cardiac magnetic resonance imaging (MRI) identified eosinophilic infiltrates and sub-endocardial enhancement strongly suggestive of EM. Left ventricular function was slightly decreased. Intra-ventricular micro-thrombi were suspected, and warfarin was started. The outcome was favourable. Leucocyte and eosinophil counts were normalized within a month. At 6 months, cardiac MRI demonstrated a significant decrease in eosinophilic infiltration and micro-thrombi, normalization of LV function, and of sub-endocardial enhancement. Discussion: This case demonstrates that non-invasive multi-modality imaging along with typical laboratory and clinical findings allow for appropriate diagnosis of EM while avoiding biopsy. It also highlights that an early diagnosis, timely treatment, and rigorous follow-up improve disease progression and outcome.

Myocardial Expression of Estrogen Receptor-mRNA Is Associated With Lower Markers of Post-operative Organ Damage in Young Patients With Congenital Cardiac Defect.

Background: Estrogen receptors (ERs) relate to cardio-protection in adults, but their role in younger patients is not known. We aimed to assess the myocardial expression of ERα- and ERß- mRNA in young patients with congenital cardiac disease and to analyze their putative protective role. Patients and Methods: Twenty children and young adults (seven females and 13 males) with a median age of 13.8 years (interquartile range: 12.3 years) were enrolled in this prospective study. The myocardial expression of ER-mRNA and genes involved in inflammation, growth, and stress response was assessed by real-time PCR and was correlated to post-operative (po) outcome. Results: ER-mRNA was detected in the myocardium of all patients, independently of gender and age. The expression of ER-mRNA correlated with that of mRNA coding for brain natriuretic peptide and for all cytokines tested. A higher ERα-mRNA expression correlated with lower troponin T concentrations at 24 h po (p = 0.032), higher PaO2/FiO2 ratio at 4 h po (p = 0.059), lower fluid retention at 4 h po (p = 0.048), and lower aspartate aminotransferase (AST) levels at 24 h po (p = 0.047). A higher ERß-mRNA expression was also correlated with lower fluid retention at 24 h po (p = 0.048). Patients in whom the levels of ERα- and ERß-mRNA were >P50 had lower troponin T (p = 0.003, respectively) and lower AST concentrations at 24 h po (p = 0.043, respectively) than the others. Conclusions: The expression of ERα- and ERß-mRNA is present in the myocardium of children and young adults with congenital cardiac defect and is associated with lower markers of po organ damage. This suggests that ERs may provide perioperative organ protection in this population.

Outcome of paediatric portopulmonary hypertension in the modern management era: A case report of 6 patients.

Portopulmonary hypertension is a rare but serious complication of portal hypertension or portosystemic shunting. Portopulmonary hypertension is an indication for liver transplantation or shunt closure. However, liver transplantation is contraindicated in patients with severe pulmonary arterial hypertension. Reported mortality rates are high in children with portopulmonary hypertension and there are scarce recommendations on its management. Our aim was to report on our real-world experience of managing portopulmonary hypertension in a specialised centre. We describe a series of 6 children with portopulmonary hypertension. Their median age at diagnosis was 13 years (range 10-15). The underlying liver conditions were cirrhosis of unknown origin (1), congenital portocaval shunts (3), biliary atresia (1), and portal vein cavernoma with surgical mesenterico-caval shunt (1). Median mean pulmonary arterial pressure was 47 mmHg (range 32-70), and median pulmonary vascular resistance was 6.6 Wood units (range 4.3-15.4). All patients except one were treated with a combination of pulmonary arterial hypertension-specific therapy (phosphodiesterase type 5 inhibitors and/or endothelin receptor antagonists and/or prostacyclin analogues). Three patients then benefited from shunt closure and the others underwent liver transplantation. Five patients showed improvement or stabilisation of pulmonary arterial hypertension with no deaths after a mean follow-up of 39 months. Based on our limited experience, early and aggressive treatment with a combination of pulmonary arterial hypertension-specific therapy significantly improves patients' haemodynamic profile and enables the performance of liver transplantation and shunt closure with satisfactory outcomes.

ROHHAD(NET) Syndrome: Systematic Review of the Clinical Timeline and Recommendations for Diagnosis and Prognosis.

CONTEXT: Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, autonomic dysregulation and neural crest tumor (ROHHHAD[NET]) is a rare and potentially fatal disease. No specific diagnostic biomarker is currently available, making prompt diagnosis challenging. Since its first definition in 2007, a complete clinical analysis leading to specific diagnosis and follow-up recommendations is still missing. OBJECTIVE: The purpose of this work is to describe the clinical timeline of symptoms of ROHHAD(NET) and propose recommendations for diagnosis and follow-up. DESIGN: We conducted a systematic review of all ROHHAD(NET) case studies and report a new ROHHAD patient with early diagnosis and multidisciplinary care. METHODS: All the articles that meet the definition of ROHHAD(NET) and provide chronological clinical data were reviewed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis individual patient data guidelines. The data were grouped into 7 categories: hypothalamic dysfunction, autonomic dysregulation, hypoventilation, NET, psychiatric symptoms, other clinical manifestations, and outcome. RESULTS: Forty-three individual patient data descriptions were analyzed. The timeline of the disease shows rapid-onset obesity followed shortly by hypothalamic dysfunction. Dysautonomia was reported at a median age of 4.95 years and hypoventilation at 5.33 years, or 2.2 years after the initial obesity. A NET was reported in 56% of the patients, and 70% of these tumors were diagnosed within 2 years after initial weight gain. CONCLUSION: Because early diagnosis improves the clinical management and the prognosis in ROHHAD(NET), this diagnosis should be considered for any child with rapid and early obesity. We propose guidance for systematic follow-up and advise multidisciplinary management with the aim of improving prognosis and life expectancy.

Right Atrial Myocardial Remodeling in Children With Atrial Septal Defect Involves Inflammation, Growth, Fibrosis, and Apoptosis.

Introduction: Myocardial remodeling due to large atrial septum defect (ASD) is macroscopically characterized by dilation of the right-sided cardiac cavities secondary to volume overload, the cellular mechanisms of which are not yet understood. We postulated that inflammation, fibrosis, and cell death are actors of right atrial remodeling secondary to ASD. Patients and Methods: In 12 children with large ASD (median age: 63 months), expression of genes coding for proteins involved in the response to cell stress and -protection, inflammation, growth and angiogenesis, fibrosis, and apoptosis was assessed by RT-PCR in right atrial myocardial biopsies taken during cardiac surgery. The presence of cytokines in myocardial cells was confirmed by immunohistochemistry and effective apoptosis by TUNEL assay. Results: In all patients investigated, a cellular response to early mechanical stress with the initiation of early protective mechanisms, of inflammation (and its control), -growth, and -angiogenesis, of fibrosis and apoptosis was present. The apoptotic index assessed by TUNEL assay averaged 0.3%. Conclusions: In children with large ASD, macroscopic right atrial remodeling relates to cellular mechanisms involving the expression of numerous genes that either still act to protect cells and tissues but that also harm as they initiate and/or sustain inflammation, fibrosis, and cell death by apoptosis. This may contribute to long term morbidity in patients with ASD.

Vasoreactive Pulmonary Arterial Hypertension Manifesting With Misleading Epileptic Seizure: Diagnostic and Treatment Pitfalls.

A 5-year-old girl presented with acute nocturnal episodes of loss of consciousness following abdominal pain and crying. Epilepsy was primarily diagnosed but the course of the disease was suggestive of pulmonary hypertension. An adapted invasive assessment of pulmonary pressure and pharmacological challenge allowed for diagnosing vasoreactive pulmonary arterial hypertension. Initial treatment with sildenafil was not effective. Thus, calcium channel blockers were introduced when positive vasoreactivity was confirmed and permitted to stop the occurrence of the syncope and dramatically improved clinical status. At 2 years follow-up she is well without any complaint and in functional class I. Echocardiography shows a slightly enlarged but not hypertrophied right ventricle with a nearly normalized estimated right ventricular pressure. The last catheterization shows subnormal values of pulmonary arterial pressure (mean pulmonary artery pressure: 24 mmHg) and pulmonary vascular resistance (5, 4 Wood units*m2), normalizing with inhaled Nitric Oxide (mean pulmonary artery pressure of 14 mmHg and pulmonary vascular resistance of 1.5 Wood units*m2). Vasoreactive pulmonary arterial hypertension is a rare entity in children but it should not be misdiagnosed with seizures due to the presence of syncopal episodes. According to current knowledge, this form seems to have a better prognosis than non-reactive pulmonary arterial hypertension and the treatment of choice remains as calcium channel blockers. The management of this case was characterized by successive mishaps and potentially harmful mistakes and underscores the potential risk with pediatric PH evaluation in non-expert centers.

Diagnosis and treatment of pediatric pulmonary arterial hypertension.

INTRODUCTION: Pediatric pulmonary arterial hypertension (PAH) remains a rare and severe disease with a poor prognosis. PAH may be idiopathic, heritable or associated with systemic conditions in particular associated with congenital heart disease. Areas covered: A thorough and extensive diagnostic approach is required for a correct diagnosis. The outcome has improved over the last decade with a better diagnostic approach and with the initiation of new targeted therapies. However, there is still significant progress to achieve as there is still no cure for this devastating disease. Expert opinion: Adapted clinical studies to define the best therapeutic approach are needed. Even if the treatment approach is still mainly derived from adult data and expert consensus, several studies and registries are currently underway and should deliver important information in the next future. This review aims to give an overview of the current diagnosis and treatment strategies of PAH.

Effectiveness of a High-Fidelity Simulation-Based Training Program in Managing Cardiac Arrhythmias in Children: A Randomized Pilot Study.

OBJECTIVES: Pediatric cardiac arrest is a rare event. Its management requires technical (TSs) and nontechnical skills (NTSs). We assessed the effectiveness of a simulation-based training to improve these skills in managing life-threatening pediatric cardiac arrhythmias. METHODS: Four teams, each composed of 1 pediatric resident, 1 emergency medicine resident, and 2 pediatric nurses, were randomly assigned to the experimental group (EG) participating in 5 video-recorded simulation sessions with debriefing or to the control group (CG) assessed 2 times with video-recorded simulation sessions without debriefing at a 2-week interval. Questionnaires assessed self-reported changes in self-efficacy, stress, and satisfaction about skills. Blinded evaluators assessed changes in leaders' TSs and NTSs during the simulations and the time to initiate cardiopulmonary resuscitation. RESULTS: After training, stress decreased and satisfaction about skills increased in the EG, whereas it remained the same in the CG (P = 0.014 and P < 0.001, respectively). There was no significant change in self-efficacy. Analyses of video-recorded skills showed significant improvements in TSs and NTSs of the EG leaders after training, but not of the CG leaders (P = 0.026, P = 0.038, respectively). The comparison of the evolution of the 2 groups concerning time to initiate cardiopulmonary resuscitation was not significantly different between the first and last simulation sessions. CONCLUSIONS: A simulation-based training with debriefing had positive effects on stress and satisfaction about skills of pediatric residents and nurses and on observed TSs and NTSs of the leaders during simulation sessions. A future study should assess the effectiveness of this training in a larger sample and its impact on skills during actual emergencies.

Implementation of a 2-Day Simulation-Based Course to Prepare Medical Graduates on Their First Year of Residency.

OBJECTIVES: Residents beginning their specialization in pediatrics and emergency medicine (EM) are rapidly involved in oncall duties. Early acquisition of crisis resource management by novice residents is essential for patient safety, but traditional training may be insufficient. Our aim was to investigate the impact of a 2-day simulation-based course on residents to manage pediatric and neonatal patients. METHODS: First year residents participated in the course. They completed two questionnaires concerning perceived stress and self-efficacy in technical skills (TSs) and non-TSs (NTSs) at 3 times: before (T0), after (T1), and 6 weeks after the course (T2). RESULTS: Eleven pediatric and 5 EM residents participated. At T0, stress about "communicating with parents" (P = 0.022) and "coordinating the team" (P = .037) was significantly higher among pediatric compared with EM residents; self-efficacy was not different between the specialities. After training, perceived stress about "managing a critical ill child" and perceived stress total significantly decreased among EM residents, whereas it remained the same among pediatricians (respectively, P = 0.001 and P = 0.016). Regarding self-efficacy, it had significantly increased in both groups (P < 0.001). Specifically, the increase in TSs self-efficacy was significant after the training (p = .008) and after 6 weeks (p < .001), and the increase in NTs self-efficacy was only significant after 6 weeks (P = 0.014). CONCLUSIONS: Our course improved perceived stress, TSs, and NTSs self-efficacy of residents. This encourages us to formalize this as a prerequisite for admission to the pediatric and EM residency.

Exercise-Triggered Chest Pain as an Isolated Symptom of Myocarditis in Children.

In childhood, chest pain occurring at exercise is a common complaint. A cardiac etiology for it is exceptionally found, explaining that most children do not undergo systematic cardiological investigation. However, chest pain at exercise may manifest as the unique symptom of a viral myocarditis. Recognizing this form of myocardial injury, however, might help to avoid clinical deterioration by providing adequate care. In this paper, we report on two children presenting with the unique clinical symptom of chest pain related to physical activity and in whom laboratory and cardiac investigations suggested transient myocardial damage related to myocarditis.

Paraspinal Arterio-Venous Fistula in Children: Two More Cases of an Exceptional Malformation.

We report on the case of two toddlers who presented in the last 2 years with heart and vascular murmur, respectively, and in whom the diagnosis of paraspinal arterio-venous fistula was made. Paraspinal arterio-venous fistulae in children are extremely rare congenital or post-traumatic vascular malformations. In the rare case of connection with the spinal venous system, they might affect spinal vascularization due to potential venous congestion. Interventional embolization rather than surgery is the treatment of choice for such lesions. Up to now, there is no consensus about the indication of prophylactic closure of asymptomatic fistulae. However, close clinical follow-up with repeated spinal magnetic resonance imaging to exclude venous congestion is mandatory for young asymptomatic patients until treatment.