Les cardiomyopathies de l'enfant et de l'adolescent (1)

Les cardiomyopathies regroupent l’ensemble des affections lésant le myocarde tout en respectant les autres structures cardiaques (comme les valves, le péricarde, les coronaires). Elles ?peuvent être primaires ou secondaires à différents facteurs (médicament, hypertension artérielle, inflammation, trouble métabolique, ischémie, etc.). Plus fréquemment, ces maladies sont classées en fonction de leur mode de présentation. On distingue ainsi les cardiomyopathies dilatées, hypertrophiques et restrictives. Une même étiologie peut néanmoins présenter différents visages, appartenant à des classes différentes de cardiomyopathies. Nous vous proposons ici la 1ère partie de cet article. La seconde sera publiée dans le prochain numéro

Belgique

Human herpesvirus 6 (HHV-6) has been demonstrated to be a neurotropic virus and has been linked to several neurological complications associated with a wide range of clinical outcomes. Here, we present data from immunocompetent children with a central neurological condition and intrathecal DNA detection of HHV-6 virus. Through these cases, physiopathology, investigations, and outcome of the disease will be described. Finally, specific treatment will be discussed

Efficacy of treatment with belladonna in children with severe pallid breath-holding spells.

IntroductionPallid breath-holding spells are common and dramatic forms of recurrent syncope in infancy. They are very stressful despite their harmless nature and sometimes require treatment. OBJECTIVE: The objective of this study was to evaluate the efficacy of belladonna in severe breath-holding spells. METHODS: This is a multicentric, retrospective series involving 84 children with severe pallid breath-holding spells. Inclusion criteria were >1 pallid breath-holding spell with loss of consciousness, paediatric cardiology evaluation, and follow-up >6 months. In total, 45 patients received belladonna and 39 patients did not receive treatment, according to physician preference. RESULTS: Mean age was 11 months, ranging from 4 to 18 months, with 54% of males. Mean spell duration was 30 seconds (interquartile range 15, 60), and the frequency was four episodes per month (interquartile range 0.5, 6.5). Comparison of baseline characteristics between groups showed similar demographics, with the single difference in the severity of the spells, being more severe in the treated group. When comparing the treated and non-treated groups at 3 months, only two (5%) patients had a complete remission in the first group, whereas 20 (44%) had remission in the belladonna group (p<0.01). When considering the characteristics of the spells before and after the initiation of treatment with belladonna, 75% of the patients presented a positive response, with 44% of the patients presenting with complete resolution of the spells (p<0.01). No major adverse reaction was reported, with only 5% minor adverse events. CONCLUSIONS: Belladonna is highly effective to alleviate severe breath-holding spells in young children, without any major adverse effects

Idiopathic pulmonary arterial hypertension in infancy: Rule out NFU1 deficiency

Idiopathic pulmonary arterial hypertension (PAH) in early infancy is a severe condition, raised when no other pediatric disease nor genetic predisposition are found for explaining high pulmonary pressures. We herein report on a female infant misdiagnosed as having idiopathic PAH since age one month, which did not respond to bosentan and sildenafil. NFU1 deficiency was only suggested at 9 months when she demonstrated a neurological regression along with cavitating leukoencephalopathy and high levels of glycine in body fluids. Targeted sequencing confirmed the presence of the known c.622G>T (p.Gly208Cys) homozygous mutation in NFU1, a gene involved in the iron-sulfur cluster synthesis, which is an essential pathway for lipoic acid-dependent enzymatic activities and mitochondrial respiratory chain complexes. Unexplained PAH in early infancy should prompt the clinician to perform amino acid chromatography searching for high level of glycine, in particular in the event of associated neurological findings. NFU1 deficiency should appear in the metabolic causes of infant PAH as it is a prominent feature of this rare condition. Early recognition will avoid additional investigations and allow appropriate genetic counselling. No effective treatment is available to date to prevent the fatal course of this multiple mitochondrial dysfunction syndrome

How 217 Pediatric Intensivists Manage Anemia at PICU Discharge: Online Responses to an International Survey.

To describe the management of anemia at PICU discharge by pediatric intensivists.info:eu-repo/semantics/publishe