Critical Organ Dysfunction and Preoperative Mortality in Newborns with Hypoplastic Left Heart Syndrome.

Hypoplastic left heart syndrome (HLHS) is fatal without surgical intervention. An important subset of HLHS patients die prior to surgical intervention, but this population is underevaluated. The neonatal sequential organ failure assessment score (nSOFA) is an operational definition of organ dysfunction that can identify those with a high risk of mortality among neonatal intensive care unit (NICU) patients. The utility of the nSOFA to predict preoperative mortality in the unique HLHS population is unknown and could inform care, particularly care provided by neonatology staff. We performed a multicenter retrospective cohort study of HLHS cases across three level IV NICUs from January 1, 2009, to December 3, 2023. Patients were classified as either survived or died prior to surgical intervention. Demographic variables were curated from medical records including the maximum nSOFA (nSOFAmax) before surgical intervention or death. We identified 265 patients with HLHS over the study period. The nSOFAmax was greater in patients who died preoperatively (14/265; 5%) compared with survivors to surgical intervention (median 8 [interquartile range, 6, 12] vs. 2 [0, 4]; p < 0.001). The area under receiver operating characteristics curve for the nSOFAmax to discriminate for mortality was 0.93 (95% confidence interval, 0.88-0.98; p < 0.001). Compared with an nSOFAmax of 0, the likelihood ratio for preoperative death doubled at 2, tripled at 4, and was 10-fold at 9. This is the first demonstration of nSOFA utility in specific to congenital heart disease and HLHS. The nSOFAmax represents a novel, electronic health record-compatible, and generalizable method to identify patient-level organ dysfunction and risk for preoperative mortality in HLHS patients. KEY POINTS: · An important subset of HLHS patients die preoperatively.. · nSOFA can be used to measure preoperative HLHS severity.. · nSOFA predicts preoperative mortality risk in HLHS patients..

Rapid Genome Sequencing Shows Diagnostic Utility In Infants With Congenital Heart Defects.

Congenital heart disease (CHD) is the most common birth defect and a leading cause of infant mortality. CHD often has a genetic etiology and recent studies demonstrate utility in genetic testing. In clinical practice, decisions around genetic testing choices continue to evolve, and the incorporation of rapid genome sequencing (rGS) in CHD has not been well studied. Though smaller studies demonstrate the value of rGS, they also highlight the burden of results interpretation. We analyze genetic testing in CHD at two time-points, in 2018 and 2022-2023, across a change in clinical testing guidelines from chromosome microarray (CMA) to rGS. Analysis of 421 hospitalized infants with CHD demonstrated consistent genetic testing across time. Overall, after incorporation of rGS in 2022-2023, the diagnostic yield was 6.8% higher compared to 2018, and this pattern was consistent across all patient subtypes analyzed. In 2018, CMA was the most common test performed, with diagnostic results for CHD in 14.3%, while in 2022-2023, rGS was the most frequent test performed, with results diagnostic for CHD in 16.9%. Additionally, rGS identified 44% more unique genetic diagnoses than CMA. This is the largest study to highlight the value of rGS in CHD and has important implications for management.

Pediatric Juxtaepiphyseal Phalangeal Fractures Are Distinct from Salter-Harris Type II Fractures and More Frequently Need Operative Fixation.

BACKGROUND: Salter-Harris type II fractures are the most common pediatric phalangeal fracture. A juxtaepiphyseal fracture is a distinct fracture pattern that, although similar in radiographic appearance, occurs 1 to 2 mm distal to the growth plate. Although subtle, there are important differences in the behavior and management of these fracture types. The purpose of this study was to compare these two fracture patterns in terms of clinical features and treatment. METHODS: An institutional review board-approved retrospective chart review was conducted of patients presenting to our tertiary care pediatric hospital. One hundred fifty-eight patients with either Salter-Harris type II or juxtaepiphyseal phalangeal fractures were identified. Primary outcomes analyzed included angulation at initial presentation, stability of reduction if attempted in the emergency department, and need for operative fixation with and without Kirschner wire fixation, with final angulation measurements. RESULTS: Salter-Harris type II fractures were more common than juxtaepiphyseal fractures (83 percent versus 17 percent, respectively). There was no significant difference between the two fracture types in the patient's age, sex, or mechanism of injury. Juxtaepiphyseal fractures were radiographically more angulated on presentation than Salter-Harris type II fractures (p = 0.02). Juxtaepiphyseal fractures required significantly more operative fixation by closed reduction and percutaneous pinning compared to Salter-Harris type II fractures (42.9 percent versus 10.8 percent, respectively; p = 0.002). There was no difference in final outcomes obtained between the two groups. CONCLUSIONS: Juxtaepiphyseal phalangeal fractures are a distinct entity from Salter-Harris type II fractures. Presenting with significantly more radiographic angulation and clinical instability, juxtaepiphyseal fractures more frequently required operative fixation. Recognizing the differences between these pediatric fracture types is important to help guide clinical management for successful healing. CLINICAL QUESTION/LEVEL OF EVIDENCE: Risk, II.