The frequency and efficacy of genetic testing in individuals with scimitar syndrome.

BACKGROUND: Scimitar syndrome is a rare CHD composed of partial anomalous pulmonary venous connection from the right lung, via a scimitar vein, to the inferior vena cava rather than the left atrium. Genetic conditions associated with scimitar syndrome have not been well investigated at present. METHODS: Our study included patients with scimitar syndrome diagnosed at Texas Children's Hospital from January 1987 to July 2020. Medical records were evaluated to determine if genetic testing was performed, including chromosomal microarray analysis or whole-exome sequencing. Copy number variants identified as pathogenic/likely pathogenic and variants of unknown significance were collected. Analyses of cardiac and extracardiac findings were performed via chart review. RESULTS: Ninety-eight patients were identified with scimitar syndrome, 89 of which met inclusion criteria. A chromosome analysis or chromosomal microarray analysis was performed in 18 patients (20%). Whole-exome sequencing was performed in six patients following negative chromosomal microarray analysis testing. A molecular genetic diagnosis was made in 7 of 18 cases (39% of those tested). Ninety-six per cent of the cohort had some type of extracardiac finding, with 43% having asthma and 20% having a gastrointestinal pathology. Of the seven patients with positive genetic testing, all had extracardiac anomalies with all but one having gastrointestinal findings and 30% having congenital diaphragmatic hernia. CONCLUSIONS: Genetic testing revealed an underlying diagnosis in roughly 40% of those tested. Given the relatively high prevalence of pathogenic variants, we recommend chromosomal microarray analysis and whole-exome sequencing for patients with scimitar syndrome and extracardiac defects.

Trisomy 18 Trends over the Last 20 Years.

OBJECTIVE: To evaluate the trends in hospitalizations for children with trisomy 18 over time and to determine the rate of invasive procedures on these children, using a large inpatient database. STUDY DESIGN: A retrospective analysis using the Kids' Inpatient Database from 1997 to 2016 was performed for trisomy 18. We evaluated survival to discharge as well as the presence of pulmonary, skeletal, neurologic, gastrointestinal, renal, and hematologic/bleeding problems. We also searched for the following interventions, if performed: gastrostomy tube placement, tracheostomy, or cardiac procedure. RESULTS: Over this period 10 151 admissions occurred in children with a diagnosis of trisomy 18. Between 1997 and 2016, the number of children admitted annually with trisomy 18 increased 74% from 1036 to 1798. The proportion of patients born prematurely remained stable at 14%-16% throughout the study. Gastrostomy tube placement increased 12-fold during the study period, tracheostomy increased 11-fold, and cardiac intervention increased 5-fold. The overall mortality rate decreased in those with trisomy 18 from 32% in 1997 to 21% in 2016. CONCLUSIONS: We highlight a decreased inpatient mortality rate during the study period. The number of children undergoing interventions such as gastrostomy tube and tracheostomy increased, as did the number of children undergoing cardiac intervention. Although the number of procedures has increased with the mortality rate decreasing, it is unclear at present whether the 2 are related.

Intravitreal anti-vascular endothelial growth factor therapy for choroidal neovascularization secondary to ocular histoplasmosis syndrome.

BACKGROUND: Intravitreal anti-vascular endothelial growth factor (anti-VEGF) therapy is beneficial in treating choroidal neovascularization from age-related macular degeneration, but few long-term studies have shown its efficacy in choroidal neovascularization from ocular histoplasmosis syndrome. Intravitreal anti-VEGF therapy may be effective in cases of choroidal neovascularization because of ocular histoplasmosis syndrome. METHODS: Retrospective chart review of 54 eyes treated with intravitreal anti-VEGF therapy for choroidal neovascularization in ocular histoplasmosis syndrome with >1 year of follow-up after initiation of anti-VEGF treatment was performed. Previous treatment and demographic information were recorded. Visual acuity was recorded for each injection treatment and at the last follow-up visit. The anti-VEGF agent was recorded for each injection treatment. Visual acuity was recorded at the last follow-up visit. RESULTS: Mean visual acuity improved from 20/53 to 20/26 over an average of 26.8 months. Either bevacizumab or ranibizumab were administered on an average of 4.5 injections per patient per year of follow-up. Vision loss was seen in only three eyes with loss limited to a single line of vision. Patients experienced no serious complications from treatment. CONCLUSION: Long-term intravitreal anti-VEGF therapy with bevacizumab or ranibizumab is beneficial in treatment of choroidal neovascularization in ocular histoplasmosis syndrome.

Imaging Findings in Pediatric COVID-19: A Review of Current Literature.

The recent COVID-19 pandemic has afflicted over 200 million individuals to date, with many different organ systems involved. The pediatric involvement has been variable, but of note is the risk of cardiac disease in pediatric COVID-19 patients. We review here the cardiac involvement in pediatric patients with COVID-19. Several studies highlight a possible cardiotropic nature of SARS-CoV-2, and describe the disease severity in myocarditis, both symptomatic and occult, as well as MIS-C. We describe the expected clinical course of these patients and note the lack of long-term follow-up data and the concerning prevalence of continued abnormal findings on follow-up imaging. With this paucity of long-term cardiac data, we recommend consideration of advanced imaging for pediatric patients with cardiac symptoms and/or elevation of cardiac serum biomarkers.

Fulminant Enteroviral Myocarditis in a Newborn Accompanying Maternal SARS-CoV-2 Infection.

We present a case of fulminant myocarditis in a preterm neonate born to a SARS-CoV-2-infected mother with COVID-19 disease. Despite complete separation after birth, cardiogenic decompensation initiated on day of life 7. Although the neonate tested negative for SARS-CoV-2, enterovirus viremia accompanied cardiac dysfunction, multiorgan failure, and neonatal death within 36 hours.

Persistent Oxygen Requirement beyond Prematurity: A Case of Acquired Pulmonary Vein Stenosis.

Acquired pulmonary vein stenosis is a rare cardiac defect and diagnosis can often be challenging, as many cases present with refractory or prolonged oxygen requirement over the expected course. Comorbid conditions can cloud this diagnosis further. Prognosis is poor for most patients. We present a case of idiopathic acquired pulmonary vein stenosis and discuss diagnostics, treatment options, and the need for further collaborative studies.

Transcatheter Occlusion of the Patent Ductus Arteriosus in 747 Infants <6 kg: Insights From the NCDR IMPACT Registry.

OBJECTIVES: The authors sought to identify risk factors associated with major adverse events (MAEs) in infants <6 kg undergoing transcatheter patent ductus arteriosus (PDA) occlusion. BACKGROUND: Transcatheter PDA occlusion is among the safest of interventional cardiac procedures in adults and older children, but use among infants <6 kg has not been characterized adequately. METHODS: Using the IMPACT (IMproving Pediatric and Adult Congenital Treatments) registry, we identified infants <6 kg undergoing transcatheter PDA occlusion (January 1, 2011, to March 1, 2015). Using mixed-effects multivariate regression, the authors assessed characteristics predictive of MAE or composite failure (procedural failure or MAE). Individual safety metrics (e.g., embolization, malposition) were also examined for differences across weight thresholds: extremely low weight (LW) (<2 kg), very LW (2 to <4 kg), and LW (4 to <6 kg). RESULTS: Transcatheter PDA occlusion was attempted in 747 infants <6 kg at 73 hospitals. Rate of procedural success was 94.3%. MAEs were observed in 12.6% of cases; the most common events were acute arterial injury and device embolization in 3.5% and 2.4% of cases, respectively. Younger age (<30 days) was associated with greater risk of a MAE (risk ratio: 3.3; 95% confidence interval: 1.5 to 7.6) and composite failure (risk ratio: 3.0; 95% confidence interval: 1.4 to 6.7). Risk of embolization was higher among extremely LW (10.5%) than very LW or LW infants (1.6% and 2.5%, respectively; p = 0.050). CONCLUSIONS: Among infants <6 kg, transcatheter PDA occlusion is technically feasible, but risks of MAE are noteworthy. These findings may help inform patient selection and procedural approach for transcatheter PDA occlusion and direct targeted research efforts to support the practice of evidence-based medicine.