A female infant, who was diagnosed antenatally with complex heart disease, confirmed to be Shone’s complex postnatally, underwent bilateral pulmonary artery banding, patent ductus arteriosus stent insertion and balloon aortic valvuloplasty soon after birth. She was found to have bilateral megaureters, left hydronephrosis and asplenia. She was on lifelong prophylactic antibiotics and extra vaccines. She had two episodes of pseudo-obstruction of the small bowel, but barium follow-through was normal. She also had a large bowel obstruction and work-up for Hirschsprung disease confirmed the diagnosis. It was noticed that she had developmental delay and hypotonia, together with subtle dysmorphism. She also had failure to thrive and difficulty feeding. Exome sequencing revealed a diagnosis of Mowat-Wilson syndrome (MWS). This case shows a previously undescribed association of Shone’s complex, a complex left-sided obstructive heart defect, and MWS. It also highlights the usefulness of trio-exome sequencing in detecting such rare mutations.
Background and aims:Previous studies have mainly looked at the significance of biochemical markers in predicting significant patent ductus arteriosus (PDA) within the first week of life. The aim of the study was to assess the value of plasma N-terminal pro-brain natriuretic peptide (NT-proBNP) concentration as a predictor of PDA in very preterm infants beyond the first week of life.
We present a 30+2-weeks-old (30 weeks and 2 days) male, twin 1, born by emergency caesarean section due to twin-twin transfusion syndrome (absent end-diastolic flow and cardiac anomaly in twin 2) presenting with hypertensive crisis on day 3. He was already on milrinone and propranolol. His echocardiogram showed poor left ventricular contractility and after cardiology consultation received sodium nitroprusside, which eventually saved his life by decreasing his blood pressure and improving cardiac function. As sodium nitroprusside is very rarely used for hypertensive crisis in neonates, we would like to share our experiences on dosage, challenges in administration due to its fast onset of action, criteria for monitoring for complications and finally weaning. Baby developed severe bilateral periventricular leukomalacia as a potential complication of hypertensive crisis, preceded by bilateral periventricular flare secondary to twin-twin transfusion.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.