[Cardiomyopathy induced by frequent premature ventricular contractions]. / Myocardiopathie rythmique induite par des extrasystoles ventriculaires chez un enfant.

We report on the rare case of 7-year-old child presenting with frequent and apparently benign premature ventricular complexes (VPC) and left ventricular dysfunction. No structural disease of the heart was seen at cardiological evaluation. Eighteen months after the introduction of an antiarrhythmic treatment with low-dose bisoprolol, Holter monitoring showed 70,000 VPC in 24h with left ventricular function remaining decreased. Six months after increasing the dose of bisoprolol, the VPC were less frequent and left ventricular function was completely normalized. This case was characteristic of a cardiomyopathy induced by frequent premature ventricular contractions.

[Heart murmurs in asymptomatic children: When should you refer?]. / Souffle cardiaque chez l'enfant asymptomatique : quand demander un avis cardiologique ?

Heart murmurs are common in children and adolescents. Although most are innocent, an isolated heart murmur in asymptomatic children may be the sole finding indicating serious heart disease. Historical elements of familial heart disease, cardiovascular symptoms and a well-conducted medical examination can identify children with an increased risk of heart disease. The distinction between an innocent heart murmur and a pathologic heart murmur is not always easy for primary care physicians because most of them have little experience with auscultation searching for congenital heart malformation. Echocardiography provides a definitive diagnosis of heart disease but is not required in case of innocent murmur. Inappropriate pediatric cardiologist and echocardiographic referral leads to useless and expensive examinations, resulting in a work overload for pediatric cardiologists. The objective of this review is to provide the keys to differentiate innocent and pathologic murmurs, and to help physicians decide on the optimal diagnostic strategy.

[Prenatal management of a fetal pericardial teratoma with pericardio-amniotic shunting: a case report]. / Prise en charge prénatale d'un tératome péricardique par drainage péricardio-amniotique : présentation d'un cas.

Fetal intrapericardial teratomas are uncommon and usually benign. Their histology is the same as that of teratomas located elsewhere. They may cause death from non-immune hydrops fetalis and cardiac tamponade. We report a case that was successfully managed prenatally by placement of a pericardial amniotic shunt.

[Evolution of prenatal diagnosis of congenital heart diseases in Indre-et-Loire (France) over a period of 15 years]. / Évolution du diagnostic anténatal des cardiopathies congénitales entre 1991 et 2005 dans une population limitée au département d'Indre-et-Loire.

UNLABELLED: The value of prenatal diagnosis of major congenital heart diseases (CHDs) has already been proved. In this study, we observed the evolution of the detection rate of CHDs and the quality of the diagnoses over a 15-year period in the Indre-et-Loire department of France. METHOD: Retrospective analysis of the quantitative and qualitative data of prenatal diagnosis between 2000 and 2005 (period 3) and comparison with studies conducted from 1991 to 1994 (period 1) and from 1995 to 1999 (period 2). The CHDs considered to be detectable are the major CHDs with neonatal symptoms. In order to analyze the quality of prenatal diagnosis, each diagnosis was classified as correct, false, or incomplete during period 3. RESULTS: Period 3: 65.7% detectable CHDs were screened. Using period 1 criteria for prenatal diagnosis, the percentage of CHDs detected for periods 1, 2, and 3 was 43.2, 66.7, and 78%, respectively. Between periods 2 and 3, the detection rate increased from 52 to 74% for CHDs diagnosed with the visualization of the outflow tract. It increased from 63 to 71% for CHDs diagnosed with a four-chamber view. During period 3, diagnoses made by a pediatric cardiologist were correct and complete in 80% of cases. It was less than 25% otherwise. CONCLUSION: The improvement of prenatal diagnosis over time results from technological progress, the greater experience of ultrasonographers, and the systematic visualization of the outflow tract in addition to the four-chamber view. Despite the improvement in prenatal diagnosis, one-third of major CHDs were not screened before birth. Pediatricians still need to diagnose CHDs after birth.

[Enzyme replacement therapy in a boy with infantile Pompe disease: cardiac follow-up]. / Enzymothérapie substitutive chez un nourrisson atteint de maladie de Pompe : évolution cardiologique.

Pompe disease is an autosomal recessive glycogen storage disorder caused by acid-alpha-glucosidase deficiency. The infantile form is usually fatal by 1 year of age in the absence of specific therapy. We report the cardiac follow-up of a 4-month-old boy treated with enzyme replacement therapy (ERT) for 8 months. The patient had no cardiac failure at the age of 1 year. Before starting ERT, ECG showed a shortened PR interval, with huge QRS complexes and biventricular hypertrophy; echocardiography demonstrated major hypertrophic cardiomyopathy. The QRS voltage (SV1+RV6) decreased from 13 to 2.9 mV after 32 weeks of ERT, suggesting a progressive reduction of cardiac hypertrophy and intracellular glycogen excess. The PR interval increased from 60 to 90 ms. A block of the right bundle branch appeared after 13 weeks of treatment. The indexed left ventricular mass decreased from 240 to 90 g/m2 after 30 weeks of ERT. The left ventricular ejection fraction decreased transitorily between the 5th and the 15 th weeks of treatment. In summary, ERT is an efficient therapeutic approach for the cardiomyopathy of infantile Pompe disease. However, the possible occurrence of a right bundle branch block and a transitory alteration in the ejection fraction highlight the importance of cardiac follow-up.

[Two cases of congenital varicella syndrome: plea for the varicella vaccine]. / A propos de deux cas de varicelle congénitale: plaidoyer pour la vaccination des femmes en âge de procréer.

We describe two cases of congenital varicella. The first presented with cutaneous aplasia and scars; the second with skin abnormalities, limb atrophy, limb paresis, Horner's syndrome and liver calcifications: prognosis was poor in this case. After reviewing the published cases of congenital varicella, we advocate the use of varicella vaccine in seronegative women before pregnancy.

Volatile organic compounds cytotoxicity and expression of HSP72, HSP90 and GRP78 stress proteins in cultured human cells.

The aim of this study was to determine whether overexpression of stress proteins (SPs) could be a sensitive biomarker for cell injury due to exposure to low doses of volatile organic compounds (VOCs) such as benzene, ethylbenzene, toluene, xylene, and chlorinated derivatives (ClB). Sublethal and cytotoxic threshold concentrations of the VOCs were determined by studying the growth rate of normal (fibroblasts) or tumor-derived human cell lines (A549, HepG2) exposed for 4 days to VOCs. Changes in SP expression as a function of concentrations were investigated by Western blotting.VOC toxicity was found to be correlated with their degree of chlorination and their hydrophobicity. Cytotoxic threshold concentrations (no-observed effect concentration, NOEC) were found to be similar for the three cell lines. It was observed that using a mixture of VOCs, each of them at concentration below the NOEC, resulted in an actual toxicity to the cells. This finding reveals a synergistic effect and should be taken into account when assessing threshold risk and exposure limit values in the worker's environment when several pollutants may be present. HSP72 and HSP90 expression levels were not affected whereas GRP78 expression was increased by all the VOCs. Taking into account the specific molecular function of GRP78, it suggests that VOC exposure results in misfolded or underglycosylated protein accumulation in the endoplasmic reticulum. GRP78 overexpression was closely related to the magnitude of growth inhibition due to increasing concentrations of each VOC. The overexpression was found to be significant for concentrations 5 to 30 times higher than NOEC, indicating that, under our experimental conditions, GRP78 expression cannot be considered as a sensitive biomarker of exposure to environmental VOCs.

[Patent ductal arteriosus occlusion by Rashkind umbrella and by detachable coil]. / Occlusion du canal artériel par ombrelle de Rashkind et par coil détachable.

UNLABELLED: The objective of this study is to report all of our experience of patent ductus arteriosus closure by interventional catheterisation, comparing two systems used successively: Rashkind umbrella and detachable coil. METHOD: Between January 1991 and July 2001, 72 patients underwent cardiac catheterisation in order to occlude patent ductus arteriosus (PDA). In 3 patients closure was not attempted (n = 1) or aborted (n = 2). The 69 patients in whom one or several prostheses were implanted are the object of this retrospective study. The patients were between 10 months and 18 years old (median 4 years), weighing between 6.7 and 54 kg (median 17 kg). The narrowest average angiographic diameter of the PDA was 2.2 mm (1 to 4 mm), type A in the Krichenko classification in 59 cases. The PDA was occluded by an umbrella in 29 patients (group 1), and from 1997 coils were used in 40 patients (group II). The medium term results were evaluated clinically and by colour doppler echocardiography. RESULTS: The age, weight, size and type of PDA were similar in the 2 groups. Group 1: 28 patients were treated with a single umbrella and one patient received 2 umbrellas. Systemic embolisation occurred in one case. The average period of follow-up was from 4 years to 10 years (average 6.5 years). The rate of residual shunt at 24 h, 6 months, and 12 months was 43%, 43%, and 39% respectively. A second implant was necessary in 2 children after 7 months and 30 months. The spontaneous disappearance of residual shunt was observed in 8 patients after between 1 month and 54 months (average 33.5 months). A slight residual shunt persisted in 4 patients (13.7%), 4.5 to 8.5 years after placing one or two umbrellas. The patients with a residual shunt were younger: 37 months versus 73 months (p < 0.05). Group II: 34 patients received a single coil and 6 patients several coils. Two cases of embolic migration and two cases of haemolysis were observed. The follow-up extended from 4 months to 4.5 years (average 2.2 years). The rate of residual shunt at 24 h, 6 months, and 1 year respectively was 35%, 10.5%, and 3.3%. At 6 and 12 months this rate was significantly less in group I (p < 0.01). Implantation of supplementary coils was necessary in 2 children at 24 h and at 9 months. Spontaneous disappearance of residual shunt occurred in 10 children out of 14 with an average interval of 5.5 months. A weak residual shunt remained detectable in 2 patients (5%) at 6 months and 36 months. CONCLUSION: The rate of initial residual shunt is comparable using both techniques. Spontaneous disappearance of residual shunts was observed in the majority of cases, but with the detachable coils this outcome is faster and the final rate for residual shunt is very low.

[Metopic craniosynostosis, probable effect of intrauterine exposure to maternal valproate treatment]. / La craniosténose de la métopique, effet probable de l'exposition intra-utérine à un traitement maternel par le valproate.

UNLABELLED: Metopic craniosynostosis may be an adverse effect of valproic acid exposed fetus. CASES: We report two infants with metopic craniosynostosis, born to mothers who were treated with valproic acid. In one case, a prenatal diagnosis was made. In the other case, only the male dizygotic twin was affected. CONCLUSION: Trigonocephaly may be a symptom of valproate embryofoetopathy detectable by antenatal ultrasound examination.

[Use of interferon in a case of hepatic hemangioma]. / Utilisation de l'interféron dans un cas d'hémangiome hépatique.

UNLABELLED: Hepatic hemangioendothelioma can have a fatal outcome. After failure of classic therapies, and when surgery or arterial embolization are not possible, those benign tumours may benefit from interferon alpha treatment. CASE REPORT: We report a case of a 14-month-old infant who presented with hepatic hemangiomatosis and cardiac failure. The disease can neither be controlled by steroids nor by radiotherapy associated with digitalo-diuretic treatment. Due to the important vascular volume of the tumour, neither surgical care nor arterial embolization were possible. Thus this infant was treated for ten months by interferon alpha. The evolution was favourable: cardiac failure, calcifications and volume of the angiomatosis were regressive. CONCLUSION: Interferon alpha treatment helps to control cardiac failure and the course of hepatic hemangioma in childhood.

[Hemolytic anemia in a newborn after maternal treatment with nitrofurantoin at the end of pregnancy]. / Anémie hémolytique chez un nouveau-né après prise maternelle de nitrofurantoïne en fin de grossesse.

UNLABELLED: Drug administration during the last trimester of pregnancy may have adverse effects for the newborn. CASE REPORT: A hemolytic anemia occurred during the first hours of life in a full-term neonate whose mother had taken nitrofurantoin during the last month of pregnancy. CONCLUSION: The immature enzymatic systems of the neonate are exposed to this adverse effect and justify the recommendation not to prescribe nitrofurantoin at the end of pregnancy.

[Association of aplasia cutis congenita with coarctation of the aorta: a coincidence?]. / Association d'une aplasie cutanée congénitale et d'une coarctation de l'aorte: association fortuite?

UNLABELLED: The association of aplasia cutis congenita and aortic coarctation could be a coincidence. CASE REPORT: A neonate was born with an aplasia cutis congenita in the midline of the scalp. When she was two months old, an aortie coarctation was detected and surgically resected. Spontaneously, the scalp gradually cicatrized. CONCLUSION: A search for a candidate gene in this second reported case is mandated.