Successful treatment of pulmonary arterial hypertension in a 2-month-old female infant with incontinentia pigmenti: A case report.

Incontinentia pigmenti (IP) is a rare X-linked dominant neuroectodermal dysplasia affecting almost exclusively females. It is caused by loss-of-function mutations in the inhibitor of kappa light polypeptide gene enhancer in B cells, kinase gamma gene, formerly known as NF-κB essential modulator. The disorder is typically identified by peculiar skin findings that develop throughout the 1st year of life. Approximately one-third of patients has ocular and neurologic abnormalities causing severe disability. Defects of hair, nails, and teeth can also occur. Among systemic complications, pulmonary arterial hypertension (PAH) is uncommon but potentially life-threatening. Only six cases have been described in the literature so far, and four of them died before reaching 1 year of age. Herein, we report the case of a 2-month-old girl with IP and severe PAH, successfully treated with pulmonary antihypertensive and anti-inflammatory therapy.

Cor Triatriatum Dexter: Contrast Echocardiography Is Key to the Diagnosis of a Rare but Treatable Cause of Neonatal Persistent Cyanosis.

Cor triatriatum dexter (CTD) is an extremely uncommon and underreported congenital cardiac anomaly in which the persistence of the embryonic right venous valve separates the right atrium into two chambers with varying degrees of obstruction to antegrade flow and variable degree of right to left shunt at atrial level. Depending on the size of the valves, clinical manifestations vary from absence of symptoms to severe hypoxia, requiring urgent surgical correction. We herein describe the diagnostic difficulties in a case of neonatal CTD, who developed increasingly severe and unresponsive cyanosis, first interpreted as postnatal maladjustment with pulmonary hypertension. The failure to respond to oxygen and pulmonary vasodilators led us to reconsider a different diagnosis. The use of contrast echocardiography improved the diagnostic performance of transthoracic echocardiogram (TTE) and revealed a massive right-to-left shunt secondary to the presence of an atrial membrane that required urgent surgery.

Electrical cardiometry in monitoring percutaneous closure of ductus arteriosus in preterm infants: a case study on five patients.

Patent ductus arteriosus closure by catheter-based interventions has become the preferred therapeutic choice. However, hemodynamic perturbances associated to this procedure have not yet been investigated. This study sought to examine the on-site hemodynamic impact caused by the procedure in preterm neonates. In this study, hemodynamic monitoring was obtained in a non-invasive way using electrical cardiometry in five preterm infants who underwent percutaneous patent ductus arteriosus closing at ASST Grande Ospedale Metropolitano Niguarda of Milan. All five infants underwent successful transcatheter closures. All patients experienced immediate hemodynamic changes upon ductal closing. Significative modifications occurred mainly in heart contractility, cardiac output, and stroke volume. In three cases, there was also a significative increase of systemic vascular resistance which persisted for 4 h after closing. While in two cases they spontaneously reduced with an amelioration of cardiac output and contractility, in the other case they were persistently high, associated with an hypertensive crisis and a progressive reduction of cardiac functions. For these reasons, milrinone was started and hemodynamic parameters returned normal in about 3 h, so therapy was discontinued.   Conclusions: Our single-center, prospective, consecutive, case series demonstrated hemodynamic aberrations due to sudden closure of a patent ductus arteriosus. Moreover, post procedural hemodynamic monitoring is important to precociously detect possible cardiac impairment and start an adequate therapy. What is Known: • It has previously suggested a temporarily impairment in cardiac output following patent ductus arteriosus closing. • Little is known about the other hemodynamic parameters during the procedure and how they change in the next hours according to the new hemodynamic status. What is New: • The persistence of increased systemic vascular resistance after percutaneous closure of ductus arteriosus could suggest the occurrence of hemodynamic complications. • Electrical cardiometry was useful to early detect postoperative hemodynamic changes.

An unusual case of suspected microvascular angina in a newborn.

Myocardial ischemia in pediatric population is uncommon and usually due to congenital heart disease or extracardiac conditions leading to poor coronary perfusion. A 6-day-old newborn presented with respiratory distress and signs of heart failure. ECG, echocardiography, and laboratory results were consistent with myocardial ischemia. Coronary angiography was performed to exclude anomalous origin of coronary arteries, showing normal coronary artery origin and course. Thrombophilia and extra-cardiac causes were ruled out. Clinical conditions improved with mechanical ventilation and diuretics, enzyme levels lowered, repolarisation and systolic function abnormalities regressed, but ischemic electrocardiographic and echocardiographic signs still presented during intense crying. Becaues of suspicion of microvascular angina, therapy with ASA and beta-blocker was started. At 5 month followup, the baby was in good clinical condition and no more episodes were recorded. We believe it is an interesting case, as no similar cases have been recorded till now.