[Neonatal lupus syndrome: Literature review]. / « Lupus néonatal ¼ : revue de la littérature.

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 positive women with known connective tissue disease is between 1 and 2% and the risk of recurrence is around 19%. Skin and systemic lesions are transient, whereas CHB is definitive and associated with significant morbidity and a mortality of 18%. A pacemaker must be implanted in 2/3 of cases. Myocarditis may be associated or appear secondly. Mothers of children with CHB are usually asymptomatic or display Sjogren's syndrome or undifferentiated connective tissue disease. In anti-Ro/SSA positive pregnant women, fetal echocardiography should be performed at least every 2 weeks from the 16th to 24th week gestation. An electrocardiogram should be performed for all newborn babies. The benefit of fluorinated corticosteroid therapy for CHB detected in utero remains unclear. Maternal use of hydroxychloroquine may be associated with a decreased recurrent CHB risk in a subsequent offspring. A prospective study is actually ongoing to confirm these findings.

Acute psychosis in propionic acidemia: 2 case reports.

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 symptoms who presented with an acute psychotic episode as teenagers. Both patients had hallucinations, panic and grossly disorganized behavior, for several weeks to several months. They had signs of moderate metabolic decompensation at the beginning of the episode, although the psychiatric symptoms lasted longer than the metabolic imbalance. We propose that these episodes were at least partially imputable to propionic acidemia. Such episodes require psychiatric examination and antipsychotic treatment, which may have to be adapted in case of cardiomyopathy or long QT syndrome.

[Neonatal atrial tachycardia: suggestive clinical sign of Costello syndrome]. / La tachycardie atriale néonatale : association non fortuite avec le syndrome de Costello. À propos de 2 cas.

Costello syndrome is a rare association of symptoms caused by de novo germline mutations of the HRAS oncogene interfering in the RAS/mitogen-activated protein kinase (MAPK) signal transduction pathway. Mutations in this pathway are also responsible for Noonan syndrome and the related cardiofaciocutaneous syndrome (CFC) as well as LEOPARD syndrome. The 4 syndromes share phenotypic resemblances concerning patients' morphology but also regarding associated cardiac disease, namely hypertrophic cardiomyopathy, pulmonary stenosis, and atrial septal defect. The electrocardiogram often shows an upper deviation of the QRS axis. Arrhythmias are rare but, if present, are particularly typical of CS. We describe herein two newborn infants with Costello syndrome revealed by atrial tachycardia associated with characteristic morphological and cardiac features of syndromes related to mutations in the RAS/MAPK pathway.

[Prognosis of atrioventricular canal in euploid foetus without abnormality of atrial situs]. / Pronostic des canaux atrioventriculaires chez les foetus euploïdes sans anomalie du situs atrial.

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 challenge. In a series of 141 fetal atrioventricular septal defects, we analyzed 80 fetuses with normal karyotype. Twenty-seven had an abnormal atrial situs. One fetus was lost for follow-up. Finally, 52 fetuses were included in the study. Termination of pregnancy was performed in 18 cases (34%). Six fetuses died in utero (18% of ongoing pregnancies). Twenty eight infants were born alive, 2 of them were lost for follow-up right after birth and 3 live born infants died postanatally (11%). Postoperative mortality was 3/15 (20%). Complete repair was proceed for 13 infants, palliative repair for 2; and 8 infants didn't have surgery at the end of follow-up because of partial or intermediate atrioventricular septal defect. The only factor significantly associated with poor outcome was the small size of the left ventricle. Isolated atrioventricular septal defects are of poor cardiac prognosis particularly when associated with left heart obstructions.

[Recommendations for sports participation in patients with arrhythmia]. / Recommandations sur la pratique de l'activité sportive en cas de pathologie rythmique.

Nowadays, sports are a wonderful mean for social success, and the high-level athlete is the symbol of a perfect hygiene of life. Despite this, the occurrence of unexplained sudden death (SD) is not exceptional, especially during training and competition. In this context, it is important to intensify medical controls for these athletes, especially in a very early phase, in order to detect subjects at risk. In case of detection of a cardiac disease prone to cardiovascular or arrhythmic event, the practice of any high-level sportive activity or even any sustained sportive activity must be forbidden without hesitation, with the aim of protecting these subjects. Even though a total interdiction of sports practice can be a tough decision to be accepted, it should prevail on the dramatic consequences of sudden death. Physicians' responsibility issues in the screening and management of competition or leisure-time sportsmen are of high importance since in case of sudden death, the physician and the medical community liabilities can be considered. As a consequence, the medical community set up recommendations on the screening, treatment and even interdiction of sportive activity for athletes, which should also be applied to leisure-time sportsmen. In the first part of this article, the different causes (especially the arrhythmia-related) of sudden death occurring in sportsmen are reviewed. In the second part, the recommendations on practice of high-level sports in case of arrhythmia or genetic arrhythmic cardiac disease are summarized.