Congenital lymphatic dysplasia and severe bone disease in a term neonate with a novel homozygous PIEZO1 variant.

We report a patient with nonimmune fetal hydrops and multiple pathologic fractures. RNA analysis revealed a novel PIEZO1 variant. This report is the first to elucidate PIEZO1's role as a critical regulator of bone mass and strength.

Severe Heart Failure in an Infant Born to a Mother Diagnosed With Influenza A Before Delivery.

Neonatal myocarditis and heart failure secondary to maternal infection with a myocarditis-associated virus in the weeks preceding delivery is rare. To our knowledge, this is the first report of an infant with myocarditis and heart failure in the setting of a maternal diagnosis of influenza A. Influenza is, however, known to be a cause of myocarditis in children, and several studies have shown vertical transmission of antibodies to influenza. Here, we present a full-term infant who presented with central cyanosis and respiratory distress at 30 minutes of life. No prenatal concerns had been identified. The infant continued to have poor saturations and mixed respiratory and metabolic acidosis despite intubation and administration of 100% FiO2. He was found to have severe biventricular dysfunction on echocardiogram. In discussion with the parents, it was elucidated that the mother had tested positive for influenza A 3 weeks before delivery. The presumptive diagnosis for this infant is heart failure secondary to influenza myocarditis that he contracted in utero. He demonstrated full return of heart function and was discharged home from the Cardiac Intensive Care Unit by day of life 10. Neonates with central cyanosis must be evaluated and treated emergently as these infants are at risk for life-threatening disease and downstream morbidity secondary to tissue hypoxia. The purpose of this case report is to highlight a rare but devastating etiology of cyanosis in neonates and to discuss the recommended course of evaluation and treatment for health care providers.