Stable to improved cardiac and pulmonary function in children with high-risk sickle cell disease following haploidentical stem cell transplantation.

Children with sickle cell disease (SCD) are at high-risk of progressive, chronic pulmonary and cardiac dysfunction. In this prospective multicenter Phase II trial of myeloimmunoablative conditioning followed by haploidentical stem cell transplantation in children with high-risk SCD, 19 patients, 2.0-21.0 years of age, were enrolled with one or more of the following: history of (1) overt stroke; (2) silent stroke; (3) elevated transcranial Doppler velocity; (4) multiple vaso-occlusive crises; and/or (5) two or more acute chest syndromes and received haploidentical transplants from 18 parental donors. Cardiac and pulmonary centralized cores were established. Pulmonary function results were expressed as percent of the median of healthy reference cohorts, matched for age, sex, height and race. At 2 years, pulmonary functions including forced expiratory volume (FEV), FEV1/ forced vital capacity (FVC), total lung capacity (TLC), diffusing capacity of lung for carbon monoxide (DLCO) were stable to improved compared to baseline values. Importantly, specific airway conductance was significantly improved at 2 years (p < 0.004). Left ventricular systolic function (fractional shortening) and tricuspid regurgitant velocity were stable at 2 years. These results demonstrate that haploidentical stem cell transplantation can stabilize or improve cardiopulmonary function in patients with SCD.

Hypoplastic left heart syndrome and pulmonary veno-occlusive disease in an infant.

This report describes an infant with heterotaxy syndrome and severe hypoplasia of the left heart who presented with profound cyanosis at birth despite a large patent ductus arteriosus. Pulmonary venous return was difficult to demonstrate by echocardiography. Angiography showed total anomalous pulmonary venous return via a plexus that drained through the paravertebral veins and bilateral superior vena cavae. Autopsy confirmed these findings, and histopathology demonstrated severe occlusive changes within the pulmonary veins.

Transesophageal electrophysiological evaluation of children with a history of supraventricular tachycardia in infancy.

Supraventricular tachycardia (SVT) presenting in the neonatal period may resolve by 1 year of age. Predicting which patients require therapy beyond 1 year of age is desirable. Pediatric electrophysiology databases from two institutions were reviewed for patients with a history of infant SVT who underwent transesophageal electrophysiology study (TEEPS) after initial SVT and before 2 years of age. All patients were tested off medications and followed for clinical recurrence. Forty-two patients presented with SVT at median age of 4 days (0-300 days). Initial control was achieved with one drug in 31 patients and multiple drugs in 11 patients. Prior to TEEPS, nine patients had clinical recurrence in the first year of life after initial control had been previously achieved. For all patients, TEEPS was performed, without complications, at median 13 months (9-22 months) of age and at median of 13 months (6-22 months) following the initial SVT episode. SVT was inducible in 27/42: 8 atrio-ventricular nodal reentry tachycardia (AVNRT) and 19 atrio-ventricular reciprocating tachycardia (AVRT). Inducibility was not associated with age at presentation, age at TEEPS, ventricular dysfunction at presentation, presence of structural congenital heart disease, number of drugs required to initially control SVT, or SVT recurrence after initial control. Of 15 not inducible at TEEPS, none had known SVT recurrence off medications at median follow-up of 27 months (6-37 months). In conclusion, among patients having SVT in early infancy, (1) TEEPS results are not associated with clinical variables, (2) non-inducibility is a good indicator of lack of clinical recurrence at intermediate follow-up, and (3) AVNRT may be more prevalent in infancy than previously reported.