Tricuspid valve malformation is a rare congenital heart disease. Prenatal diagnosis of Ebstein's anomaly (EA) and tricuspid valve dysplasia (TVD) is associated with high mortality. There are conflicting reports concerning accurate prognostication after diagnosis in utero. The aim of our study was to assess prognostic factors based on our experience. We reviewed 37 fetuses between 1984 and June 2010 comprising 26 cases of EA and 11 cases of TVD. There were 10 terminations, 5 intrauterine deaths, 8 neonatal deaths, and 14 survivors. We found that the major prognostic factor for outcome was the flow pattern through the pulmonary valve on the first echocardiogram. Retrograde flow was strongly correlated with fetal or neonatal death (p = 8 × 10(-5)), and anterograde flow predicted good outcome (p = 8 × 10(-5)). In contrast, cardiothoracic indexes, right to left-ventricular ratio, and Celermajer index were not useful prognostic markers. The Simpson Andrews Sharland score, which was more complex, was well correlated with our series. Flow through the pulmonary valve on the first echocardiogram is a simple and excellent prognostic factor when major tricuspid valve disease is diagnosed in utero. Fetuses should be monitored throughout pregnancy, particularly those with retrograde ductus arteriosus, because several hemodynamic factors may worsen the prognosis.

The objective of this study was to assess the ability of different parameters to identify fetuses requiring neonatal care for coarctation of the aorta (CoA). Between January 2003 and December 2012, 175 fetuses referred for great vessel disproportion were divided into two groups: group A (n = 51) with high risk of CoA and delivery planned in tertiary care referral center and group B (n = 124) with no increased risk of CoA. In group A, diagnosis of CoA was confirmed in 38/51 (74 %). In group B, 2/124 had CoA. Multiple logistic regression analysis identified the best combination as diffusely hypoplastic and/or angular aortic arches, ventricular septal defect and aortic valve diameter <5 mm at 36-week gestational age (GA). Positive predictive value was 75 % when vessel disproportion was noted before 28-week GA and 73 % in the third trimester. Postnatal diagnosis involved 38 cases of CoA which had not been referred. One case of CoA diagnosed after birth was referred prenatally for difficulty of screening without any defect. The results of our prospective study are in agreement with those of previous series, but our false positive rate was lower especially when the diagnosis of vascular disproportion was made at third trimester. The performance of fetal cardiac screening does not seem to be very good, but prenatal diagnosis is probably not always possible: Among our three false negative cases, two had isolated vascular disproportion and the third no risk factors.

The management of patients with congenital heart disease was profoundly changed firstly by the advent of pediatric and prenatal ultrasound and then more recently by cardiac magnetic resonance imaging (MRI) and computed tomography (CT) of the heart and great vessels. The improved life expectancy of these patients has brought about new medical and imaging requirements. MRI and CT are increasing second line techniques in this group of patients. This article summarizes the advantages and limitations of CT and MRI in some frequently encountered situations in children and adults followed up for congenital heart disease.

Introduction: SMG9 deficiency is an extremely rare autosomal recessive condition originally described in three patients from two families harboring homozygous truncating SMG9 variants in a context of severe syndromic developmental disorder.To our knowledge, no additional patient has been described since this first report. Methods:We performed exome sequencing in a patient exhibiting a syndromic developmental delay and in her unaffected parents and report the phenotypic features.Results: Our patient presented with a syndromic association of severe global developmental delay and diverse malformations, including cleft lip and palate, facial dysmorphic features, brain abnormalities, heart defect, growth retardation, and severe infections. She carried a novel SMG9 homozygous variant NM_019108.3:c.1177C>T, p.(Gln393*), while her unaffected parents were both heterozygous. Conclusions:We confirm that bi-allelic truncating SMG9 variants cause a severe developmental syndrome including brain and heart malformations associated with facial dysmorphic features, severe growth and developmental delay with or without ophthalmological abnormalities, severe feeding difficulties, and life-threatening infections. K E Y W O R D Sheart and brain malformation, nonsense mediated decay, SMG9

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