Structural congenital heart disease (CHD) represents a heterogeneous group of cardiac anomalies of variable embryologic and molecular origins. A basic understanding of the genetics implicated in nonsyndromic (isolated) and syndromic structural CHD can better inform management decisions and family counseling. When a fetus or neonate develops CHD as a result of a genetic cause, it can be due to a mutation or a monogenic, oligogenic, or polygenic pathogenic variant.
View Article and Find Full Text PDFA 13-day-old, late preterm male, born appropriate for gestational age, presented to the pediatric clinic for his routine 2-week well visit with less than 1-day history of decreased oral intake and lethargy. During the baby's well exam, he acutely decompensated and required resuscitation and transfer to the emergency department, where he was intubated for frequent apneic events. He was admitted to the NICU for management and further workup.
View Article and Find Full Text PDFWe present a case of an infant born to a mother with COVID-19, who at 24 hours of life was treated with a glycerin suppository for failure to pass meconium and went on to develop bilious emesis and abdominal distention as feeding continued over the next several hours. After a barium enema identified the distal obstruction, the pediatric surgical team used rectal irrigation to remove a large meconium plug, which mimicked the appearance of the descending colon on plain film, in a case of small left colon syndrome. Although intestinal obstruction in the newborn is rare, it is imperative that it is promptly diagnosed and treated appropriately to avoid negative outcomes; which, even in perhaps the mildest form of functional distal obstruction, meconium plug syndrome, can lead to an impressive clinical illness with risk of intestinal perforation and subsequent meconium peritonitis if the obstruction is not relieved.
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