Association of impaired linear growth and worse neurodevelopmental outcome in infants with single ventricle physiology: a report from the pediatric heart network infant single ventricle trial.

OBJECTIVES: To describe neurodevelopmental outcomes in infants with single ventricle (SV) physiology and determine factors associated with worse outcomes. STUDY DESIGN: Neurodevelopmental outcomes for infants with SV enrolled in a multicenter drug trial were assessed at 14 months of age using the Bayley Scales of Infant Development-II. Multivariable regression analysis was used to identify factors associated with worse outcomes. RESULTS: Neurodevelopmental testing was performed at 14 ± 1 months in 170/185 subjects in the trial. Hypoplastic left heart syndrome was present in 59% and 75% had undergone the Norwood operation. Mean Psychomotor Developmental Index (PDI) and mental developmental index (MDI) were 80 ± 18 and 96 ± 14, respectively, (normal 100 ± 15, P < .001 for each). Group-based trajectory analysis provided a 2-group model ("high" and "low") for height z-score trajectory and brain type natriuretic peptide (BNP) trajectory. The predicted PDI scores were 15 points higher in the "high" height z-score trajectory compared with the "low" cluster (P < .001). A higher number of serious adverse events during the trial was associated with lower PDI scores (P = .02). The predicted MDI scores were 13-17 points lower in "low height trajectory-high BNP trajectory" group compared with the other 3 groups (P < .001). MDI scores were also lower in subjects who required extracorporeal membrane oxygenation during the neonatal hospitalization (P = .01) or supplemental oxygen at discharge (P = .01). CONCLUSIONS: Neurodevelopmental outcome at 14 months of age is impaired in infants with SV physiology. Low height trajectory and high BNP trajectory were associated with worse neurodevelopmental outcomes. Efforts to improve nutritional status alone may not improve neurodevelopmental outcomes.

Atypically located cardiac haemangioma of the mitral valve.

We report an adolescent with a benign cardiac haemangioma with attachments exclusively to the anterior leaflet of the mitral valve. On the basis of our review of the literature, this study has not been reported previously.

Portopulmonary hypertension secondary to congenital extrahepatic portosystemic shunt with heterotaxy and polysplenia: a cause of sudden death in an infant.

Congenital extrahepatic portosystemic shunt (CEPS) is associated with polysplenia and heterotaxy and can cause portopulmonary hypertension. We report a 12-month-old girl who acutely died likely due to portopulmonary hypertension secondary to CEPS associated with heterotaxy and polysplenia. A retrospective radiographic review following her autopsy identified an anatomical explanation for the acute death in an infant.

Pulmonary hypertension secondary to partial pulmonary venous obstruction in a child with Cantu syndrome.

We report on an African-American male with Cantu syndrome who required a pericardial window for a significant pericardial effusion in infancy and was subsequently found to have partial pulmonary venous obstruction (PVO) leading to pulmonary hypertension. Measurement of bilateral pulmonary capillary wedge pressures is important to uncover partial PVO.

Prenatal diagnosis and risk factors for preoperative death in neonates with single right ventricle and systemic outflow obstruction: screening data from the Pediatric Heart Network Single Ventricle Reconstruction Trial(∗).

OBJECTIVES: The purpose of this analysis was to assess preoperative risk factors before the first-stage Norwood procedure in infants with hypoplastic left heart syndrome and related single-ventricle lesions and to evaluate practice patterns in prenatal diagnosis, as well as the role of prenatal diagnosis in outcome. METHODS: Data from all live births with morphologic single right ventricle and systemic outflow obstruction screened for the Pediatric Heart Network's Single Ventricle Reconstruction Trial were used to investigate prenatal diagnosis and preoperative risk factors. Demographics, gestational age, prenatal diagnosis status, presence of major extracardiac congenital abnormalities, and preoperative mortality rates were recorded. RESULTS: Of 906 infants, 677 (75%) had prenatal diagnosis, 15% were preterm (<37 weeks' gestation), and 16% were low birth weight (<2500 g). Rates of prenatal diagnosis varied by study site (59% to 85%, P < .0001). Major extracardiac congenital abnormalities were less prevalent in those born after prenatal diagnosis (6% vs 10%, P = .03). There were 26 (3%) deaths before Norwood palliation; preoperative mortality did not differ by prenatal diagnosis status (P = .49). In multiple logistic regression models, preterm birth (P = .02), major extracardiac congenital abnormalities (P < .0001), and obstructed pulmonary venous return (P = .02) were independently associated with preoperative mortality. CONCLUSIONS: Prenatal diagnosis occurred in 75%. Preoperative death was independently associated with preterm birth, obstructed pulmonary venous return, and major extracardiac congenital abnormalities. Adjusted for gestational age and the presence of obstructed pulmonary venous return, the estimated odds of preoperative mortality were 10 times greater for subjects with a major extracardiac congenital abnormality.

An infant with Williams-Beuren syndrome and Ebstein anomaly.

We report an infant with Ebstein anomaly of the tricuspid valve and severe branch pulmonary artery stenosis who was diagnosed with Williams-Beuren syndrome.

Progressively worsening hypertrophic cardiomyopathy in a child with newly diagnosed Costello syndrome while receiving growth hormone therapy.

We describe a 6-year-old boy with newly diagnosed Costello syndrome after the diagnosis of severe hypertrophic cardiomyopathy. His neonatal asymmetric septal cardiomyopathy resolved by 9 months of age but reappeared at 6 years of age. This report highlights two important concepts: the association of genetic syndromes with hypertrophic cardiomyopathy and the possibility of worsening severity of hypertrophic cardiomyopathy linked to growth hormone therapy.

Giant aneurysm of the left anterior descending coronary artery in a pediatric patient with Behcet's disease.

Behcet's disease is a rare autoimmune vasculitis characterized by oral aphthosis, genital ulcers, and ocular and cutaneous lesions. Vascular involvement usually affects the veins more commonly than the arteries, and coronary arterial involvement is extremely rare. We report an adolescent with Behcet's disease who developed a large pseudoaneurysm of the left anterior descending coronary artery requiring a coronary arterial bypass graft.

Anomalous origin of left pulmonary artery from the aorta with partial anomalous pulmonary venous return.

Anomalous origin of left pulmonary artery (AOLPA) from the aorta is a rare congenital cardiac malformation. We report a case of AOLPA from the aorta with partial anomalous pulmonary venous return (PAPVR) in a 3.2 kg infant. Surgical correction was performed with direct anastomosis of AOLPA to the main pulmonary artery with subsequent baffling of the anomalous right pulmonary veins to the left atrium and patch augmentation of the left pulmonary artery performed at 1-month of life. Recurrent stenosis of the proximal left pulmonary artery was treated with stent placement at 17-months. Pulmonary hypertension has persisted at 30-month follow up.

An infant with transposition and cystic fibrosis.

We report an infant with transposition, with the circumflex artery arising from the right coronary artery, who was diagnosed with cystic fibrosis following the occurrence of meconium ileus in the postoperative period.

DNA cross-linking, double-strand breaks, and apoptosis in corneal endothelial cells after a single exposure to mitomycin C.

PURPOSE: To investigate the cellular effects of mitomycin C (MMC) treatment on corneal endothelial (CE) cells at clinically relevant applications and dosages. METHODS: Radial and posterior diffusion of MMC was determined by an Escherichia coli growth inhibition bioassay. A modified version of the comet assay (single cell gel electrophoresis) was used to detect DNA cross-linking. Immunostaining detected the nuclear phosphorylated histone variant H2AX (gamma-H2AX) indicating DNA double-strand breaks. Apoptosis in MMC-treated cells was detected with annexin V staining. RESULTS: Topical application of 0.02% MMC to intact goat globes resulted in MMC in the CE at 0.37 microg/mL and produced a significant increase in CE DNA cross-linking with as little as 6 seconds of topical MMC treatment. DNA cross-linking was also demonstrated in cultured CE cells by using MMC exposures similar to those detected in CE of intact eyes. Such MMC treatment of CE produced elevated and persistent gamma-H2AX-positive cells indicative of DNA double-strand breaks. Similarly, there was an increase in the proportion of apoptotic CE cells, evidenced by positive annexin V staining. CONCLUSIONS: The results demonstrate that exposure to MMC at times and concentrations commonly used in refractive surgery produces cross-linking of corneal endothelial DNA, persistent DNA damage, and endothelial death via apoptosis. Current practices of MMC application during refractive surgeries may increase the potential for long-term and permanent deleterious effects on the health of the corneal endothelium.

Right heart dilatation in adults: congenital causes.

OBJECTIVE: The purpose of this article is to illustrate the common congenital cardiac lesions that are characterized by right-sided heart enlargement that may be seen on routine thoracic or cardiac imaging. CONCLUSION: A systematic approach to the evaluation of the right heart and an understanding of the congenital abnormalities causing right chamber enlargement will allow the radiologist to diagnose unsuspected cardiac abnormalities on routine clinical thoracic and cardiac imaging as well as accurately identify these defects on dedicated cardiac CT or MRI examinations.

Usefulness of cutting balloon angioplasty for pulmonary vein in-stent stenosis.

After radiofrequency ablation for atrial fibrillation, patients may develop pulmonary vein stenoses requiring stent angioplasty. The treatment options for when such patients develop in-stent stenoses are poorly defined. The investigators retrospectively reviewed their initial experience with cutting balloon angioplasty for pulmonary vein in-stent stenosis. Ten patients with 21 previously stented pulmonary veins returned to the catheterization laboratory for in-stent stenoses. Angioplasty of individual in-stent stenotic vessels were grouped into standard angioplasty alone (n = 6) and a combination of cutting balloon followed by standard angioplasty (n = 15). Although final mean lesion diameter was increased significantly in the 2 groups, restenosis occurred in 4 of 6 vessels in the group with angioplasty alone and 2 of 15 vessels in the cutting balloon group. In conclusion, cutting balloon angioplasty for pulmonary vein in-stent stenosis appears to improve the intermediate results of repeat angioplasty.

Ambulatory electrocardiogram analysis in infants treated with recombinant human acid alpha-glucosidase enzyme replacement therapy for Pompe disease.

PURPOSE: Infantile Pompe disease is caused by deficiency of lysosomal acid alpha-glucosidase. Trials with recombinant human acid alpha-glucosidase enzyme replacement therapy (ERT) show a decrease in left ventricular mass and improved function. We evaluated 24-hour ambulatory electrocardiograms (ECGs) at baseline and during ERT in patients with infantile Pompe disease. METHODS: Thirty-two ambulatory ECGs were evaluated for 12 patients with infantile Pompe disease from 2003 to 2005. Patients had a median age of 7.4 months (2.9-37.8 months) at initiation of ERT. Ambulatory ECGs were obtained at determined intervals and analyzed. RESULTS: Significant ectopy was present in 2 of 12 patients. Patient 1 had 211 and 229 premature ventricular contractions (0.2% of heart beats) at baseline and at 11.5 weeks of ERT, respectively. Patient 2 had 10,445 premature ventricular contractions (6.7% of heart beats) at 11 weeks of therapy. CONCLUSION: Infantile Pompe disease may have preexisting ectopy; it may also develop during the course of ERT. Therefore, routinely monitoring patients using 24-hour ambulatory ECGs is useful. Periods of highest risk may be early in the course of ERT when there is a substantial decrease in left ventricular mass and an initial decrease in ejection fraction.

An infant with hypoplastic left heart syndrome and spinal muscular atrophy.

We report an infant with hypoplastic left heart syndrome consisting of mitral valvar atresia, aortic valvar atresia, hypoplasia of the aortic arch and coarctation of the aorta, who demonstrated respiratory failure and global hypotonia, and who was eventually diagnosed with spinal muscular atrophy.