Rapidly progressive mitral valve stenosis in patients with acromelic dysplasia.

Acromelic dysplasias are a group of skeletal dysplasias characterised by short-limbed short stature with other distinctive phenotypic features including small hands and feet and stiff joints. Geleophysic dysplasia is an acromelic dysplasia that is associated with characteristic facial features, progressive cardiac valvular thickening, and tracheal stenosis. Owing to overlapping clinical features with other types of short-limbed skeletal dysplasias, it is important to make a precise diagnosis as they have different cardiac morbidity and mortality. We present the cases of three patients with geleophysic dysplasia and progressive mitral valve disease to emphasise the natural history of this disorder and provide guidance regarding cardiac health supervision in these individuals.

Antifactor Xa Monitoring and Hematologic Complications of Pediatric Extracorporeal Membrane Oxygenation.

Hemorrhagic and thrombotic complications are a significant source of morbidity and mortality for pediatric patients on extracorporeal membrane oxygenation (ECMO). Optimal anticoagulation therapies and monitoring strategies remain unknown. In 2013, our institution changed the anticoagulation monitoring protocol from activated clotting time (ACT) to antifactor Xa (anti-Xa) levels. We conducted a retrospective review of patients who received anticoagulation management directed by ACT results (n = 96) or anti-Xa levels (n = 72) between January 2010 and March 2016. Hemorrhagic complications occurred in 25% of the ACT group and 39% of the anti-Xa group (p = 0.054). Thrombotic complications were observed in 12.5% of the ACT group and 14% of the anti-Xa group (p = 0.8). There was a greater incidence of extracorporeal cardiopulmonary resuscitations (E-CPR; 36% vs. 15%; p = 0.005) in the anti-Xa group as compared with the ACT group. Secondary analysis showed no difference in transfusion requirements for red blood cells (ml/kg; p = 0.32) or platelets (ml/kg; p = 0.32). There was no difference in average heparin infusion rates (unit/kg/hr) per cannulation (p = 0.17) between the groups. Management of anticoagulation based on anti-Xa levels appears to be as effective as management based on ACT results.