Prevalence, timing of diagnosis and mortality of newborns with congenital heart defects: a population-based study.

OBJECTIVE: To assess the prevalence, timing of diagnosis and infant mortality of congenital heart defects (CHD) with population-based data and using a classification that allows regrouping of the International Paediatric and Congenital Cardiac Code into a manageable number of categories based on anatomic and clinical criteria (ACC-CHD). DESIGN: Population-based cohort study. SETTING: Greater Paris. PATIENTS: All cases (live births, terminations of pregnancy for foetal anomaly (TOPFA), foetal deaths) diagnosed prenatally, or up to 1 year of age in the birth cohorts, May 2005-April 2008, for women in Greater Paris (n=317 538 births). Diagnoses were confirmed in specialised centres and subsequently coded and classified into the categories of ACC-CHD by paediatric cardiologists in the study group. RESULTS: The total number of CHD was 2867, including 2348 live births (82%), 466 TOPFA (16.2%) and 53 foetal deaths (1.8%). The total prevalence of CHD was 90 per 10 000. After exclusion of ventricular septal defects (VSD), 40% of 'isolated' CHD was diagnosed prenatally with about one half of the remaining diagnosed before 7 days of age. Nevertheless, one in five cases of these major CHD was diagnosed after the fourth week. Infant mortality of 'isolated' CHD-VSD excluded was 8.5% with 40% of deaths occurring after the fourth week of life. These outcomes varied substantially across categories of ACC-CHD. CONCLUSIONS: Timing of diagnosis, TOPFA, risk and timing of infant mortality were highly variable across the categories of CHD in ACC-CHD, suggesting that it may be a useful measure of severity, and hence, predictor of outcomes of CHD.

Effect of beta-blockade on ascending aortic dilatation in children with the Marfan syndrome.

Aortic root dilatation is the principal life-threatening complication in Marfan syndrome, leading to aortic regurgitation, dissection, and rupture. Beta blockade slows aortic dilatation in adults, but there has been no definitive evidence in children. Therefore, the evolution of aortic diameter at the level of the sinuses of Valsalva in 155 children (82 males, 73 females) aged <12 years who had been diagnosed with Marfan syndrome according to international criteria was retrospectively studied. Affected children treated by beta blockade >or=1 time during their lives (n = 77, mean age at diagnosis 6.1 +/- 3.2 years) were compared with affected children who had never received beta blockers (n = 78; 42 males, mean age 7.4 +/- 5.2 years). A mean delay of 1.3 years was observed between diagnosis and the initiation of beta blockade in the treated group (mean age at initiation 7.5 years). At the time of diagnosis, aortic diameters were similar in the 2 groups, but after 1.3 years, aortic diameters were greater in the group of children in whom beta blockers had been initiated. On univariate analysis, aortic diameter was related to age and height, but not gender or familial history of aortic dissection. On multivariate analysis, treatment and age remained significant determinants of aortic diameter. Beta blockade significantly decreased the rate of aortic dilatation at the level of the sinuses of Valsalva by a mean of 0.16 mm/year (p <0.05), an effect that increased with treatment duration. A trend toward lower cardiac mortality, decreased need for preventive aortic surgery, and less dissection was observed. In conclusion, beta blockade appears to limit aortic dilatation during childhood in patients affected by Marfan syndrome. Therefore, this treatment should be recommended as soon as the diagnosis is made.

High proportion of pituitary abnormalities and other congenital defects in children with congenital nasal pyriform aperture stenosis.

We aimed to determine the occurrence of pituitary dysfunction and additional malformations in patients with congenital nasal pyriform aperture stenosis (CNPAS) and to predict which patients are at risk of pituitary dysfunction. Among the 40 studied patients, hypothalamo-pituitary (HP) axis abnormalities were found in 16 patients (40%), with endocrine dysfunction (n = 9) and/or abnormal HP MRI findings (n = 15). A normal HP axis on MRI was highly predictive of normal endocrine function. Of the 40 patients, 31 had additional abnormalities in the cranio-facial area (n = 26), the brain (n = 12), the vertebrae (n = 5), the limbs (n = 4), the heart (n = 7) and the kidney (n = 3). Six patients had syndromic associations: VACTERL (n = 4), CHARGE (n = 1) and RHYNS (n = 1) syndromes. Craniofacial and brain malformations were more common in patients with HP axis abnormalities than in patients with normal HP axis. Familial history of midline defects and/or consanguinity were found in 30% of patients. In conclusion, HP axis abnormalities are frequent in patients with CNPAS and justify MRI of the brain early in life and clinical evaluation to screen for patients with pituitary insufficiency. CNPAS may be a genetically heterogeneous condition with a large phenotypic variability that shares common etiological mechanisms with the various forms of the holoprosencephaly phenotype.

Culture-negative neonatal meningitis and endocarditis caused by Streptococcus agalactiae.

We describe a case of culture-negative meningitis and endocarditis caused by Streptococcus agalactiae in a 27-day-old boy. S. agalactiae was detected in cerebrospinal fluid and serum by broad-spectrum PCR amplification.