Endocardial fibroelastosis (EFE) was first described by Weinberg and Himmelfarb [1943] and is characterized by a porcelain-like thickening of the ventricular endocardium. It presents as unexplained heart failure in infants and children; with most patients progressing to end-stage heart failure and death [Nield et al., 2002]. With improvement in prenatal ultrasonography examination, EFE can be suspected in utero on the basis of ventricular enlargement, poor ventricular contractility, and marked echodensity of the endocardial surface. Although the etiology of EFE is poorly understood, it is conventionally classified into two types: congenital (primary) and acquired (secondary). The congenital type is usually sporadic, but may be inherited as an autosomal recessive (EFE1) or X-linked (EFE2) genetic trait [Sjoberg et al., 2007]. Array comparative genomic hybridization (array CGH) has revolutionized the cytogenetic testing available for patients with dysmorphic features and multiple anomalies leading to the discovery of many novel microdeletions. 16p11.2 microdeletion has recently been detected by array CGH [Ghebranious et al., 2007] and is associated with autism spectrum. In contrast, we report on a case of 16p11.2 deletion associated with EFE.The mother was a 21-year-old, gravida 2, para 1 woman whose pregnancy had been normal until 35 weeks' gestation when a fetal sonogram showed cardiac abnormalities. A fetal echocardiogram at 38 weeks' gestation showed massive cardiomegaly with cardiothoracic ratio of approximately 0.74. The right ventricle was severely dilated, but still contracting. The left ventricle (LV) was slightly enlarged; the LV wall was hypertrophic and trabeculated and barely contractile. The RV outflow tract wrapped around the LV. The pulmonary valve annulus was dilated and pulmonary valve tissue was not identifiable. Aortic and ductal arches were not visualized. There was severe pulmonary parenchymal hypoplasia. Mild ascites was noted. The provisional prenatal diagnoses were a primary dilated cardiomyopathy or an absent pulmonary valve syndrome. Due to massive cardiomegaly and virtual absence of lung tissues, the parents decided against aggressive intervention. A repeat cesarean was performed at 39 weeks' gestation; a female infant weighing 3,055 g was delivered. Apgar scores were 5 and 5 at 1 and 5 min, respectively. Chest X-ray showed massive cardiomegaly. Comfort care was initiated after delivery; the infant died at 3.5 hr of age.Autopsy showed a dilated right ventricle and small left ventricle. The heart weighed 50 g (normal 19.8 AE 4.8 g). The endocardium, thickened bilaterally, was lined with a white porcelain-like layer that was consistent with EFE ( Fig. 1). The diagnosis was confirmed by microscopic examination (Fig. 2). The right ventricle showed more severe EFE than the left. The inflow/outflow tracts of the heart were normal; the heart valves were normal. The ductus arteriosus and foramen ovale were patent. Viral tissue cultures of lung and heart were negative. PCR for parvovirus B19 on t...

Umbilical venous cannulation is the favored approach to perinatal central access worldwide but has a failure rate of 25-50% and the insertion technique has not evolved in decades. Improving the success of this procedure would have broad implications, particularly where peripherally inserted central catheters are not easily obtained and in neonates with congenital heart disease, in whom umbilical access facilitates administration of inotropes and blood products while sparing vessels essential for later cardiac interventions. We sought to use real-time, point-of-care ultrasound to achieve central umbilical venous access in patients for whom conventional, blind placement techniques had failed.

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We report on a 15-month-old girl with a deletion of the distal short arm of chromosome 1p36.3, partial trisomy of the short arm of chromosome 19p13.3, growth and developmental delay, and multiple anomalies including microcephaly, bifrontal prominence, obtuse frontonasal angle, short columella, hypertelorism, sacral dimples, and a bicuspid pulmonary valve. Based on our FISH mapping studies, we estimate the size of the trisomic region of 19p.13.3 to be approximately 3.17 Mb, and the region of monosomy for 1p36.3 as 1.3 Mb. This is the first report of a patient with partial trisomy 19p13.3 and partial monosomy p36.3.