Long-Term Outcomes in Patients With Trisomy 21 and Obstructive Sleep Apnea.

OBJECTIVE: To better understand the long-term health implications of obstructive sleep apnea (OSA) on patients with Trisomy 21 (T21) and the role of sleep surgery as a therapeutic intervention. STUDY DESIGN: Retrospective large database review. SETTING: The prevalence of OSA is as high as 75% in patients with T21. We sought to examine the cardiovascular, neurological, and endocrinological outcomes of patients with T21 10 years after their diagnosis of OSA. METHODS: TriNetX, an electronic medical record database, was queried for health outcomes in patients with T21 after diagnosis of OSA. The group was further analyzed to identify those who underwent sleep surgery, including hypoglossal nerve stimulation, palatopharyngoplasty, or adenotonsillectomy. RESULTS: Ten years after diagnosis, patients with OSA and T21 had a significantly higher incidence of death, myocardial infarction, cerebral infarction, heart failure, cardiac arrhythmia, ischemic heart disease, atrial fibrillation, essential hypertension, pulmonary hypertension, diabetes mellitus, and Alzheimer's disease compared to patients with T21 alone. Patients with OSA and T21 who underwent sleep surgery had significantly reduced incidence of adverse health outcomes compared to patients using continuous positive airway pressure. CONCLUSION: Our findings suggest that patients with T21 and OSA are at higher risk of poor health outcomes, which may require closer monitoring for earlier diagnosis and management of comorbid conditions. Sleep surgery is a suitable treatment modality for mitigating the risk of adverse outcomes in this population and should be considered in patients who are eligible surgical candidates.

Relationship Between Serum Brain-Type Natriuretic Peptide and Biomarkers of Growth in Infants With Shunt-Dependent Single Cardiac Ventricle.

For infants with shunt-dependent or ductal-dependent single ventricle heart disease, poor growth is common and associated with morbidity and impaired neurodevelopmental outcomes. Although attention has focused on nutrition to promote weight gain, little is known about the relation between heart failure and growth factors. A prospective observational pilot study was performed to assess the relation between heart failure, assessed by brain natriuretic peptide (BNP), and growth factors (insulin-like growth factor 1 [IGF-1] and insulin-like growth factor-binding protein 3) at 3 visits: (1) before discharge from neonatal intervention with the establishment of stable pulmonary blood flow, (2) immediately before superior cavopulmonary connection, and (3) before discharge after superior cavopulmonary connection operation. The relation between BNP and growth factors was analyzed using Spearman pairwise correlations at each visit and modeled over time with a linear mixed-effects model. Correlations were considered worthy of further exploration using a p <0.10, given the exploratory nature of the study. The study included 38 infants (66% male, 68% hypoplastic left heart syndrome). Median BNP was elevated at visit 1 and decreased over time (287 pg/dl [interquartile range 147 to 794], 85 pg/dl [52 to 183], and 90 pg/dl [70 to 138]). Median IGF-1 Z score was <0 at each visit but increased over time (-0.9 [interquartile range -1.1 to 0.1], -0.7 [-1.2 to 0.1], and -0.5 [-1.2 to 0]). Inverse correlations were found between BNP and IGF-1 at visit 1 (r = -0.40, p = 0.097), BNP and IGF-1 and insulin-like growth factor-binding protein 3 at visit 2 (r = -0.33, p = 0.080 and r = -0.33, p = 0.085, respectively) and BNP and IGF-1 Z score at visit 3 (r = -0.42, p = 0.049). Significant relations were likewise found between the change in BNP and the change in IGF-1 between visits 1 and 3 (p = 0.046) and between visits 2 and 3 (p = 0.048). In conclusion, this pilot study demonstrates an inverse correlation between BNP and growth factors, suggesting that the heart failure state associated with this physiology may play a mechanistic role in impaired growth.

Changes in Autonomic Tone in Premature Infants Developing Necrotizing Enterocolitis.

BACKGROUND: Necrotizing enterocolitis (NEC) is a complication of prematurity with a high mortality rate. Currently, there are no reliable biomarkers capable of identifying infants at risk for developing NEC. We sought to determine the autonomic nervous system antecedents of NEC in premature infants, using heart rate variability (HRV). MATERIALS AND METHODS: HRV was quantified by retrieving archived electrocardiogram (EKG) data from 30 premature infants from 4 days prior, through 4 days after, the clinical NEC diagnosis. HRV metrics were compared with those on the diagnosis day using the receiver operating characteristic (ROC) analysis. RESULTS: HRV metrics showed a depression of autonomic tone that preceded the clinical NEC diagnosis by 2 days, and which recovered to baseline by 2 days after diagnosis (area under the curve [AUC] < 0.7). The pattern of HRV change was significantly associated with the clinical severity of NEC (stage II vs. stage III). CONCLUSION: Our studies suggest that readily accessible metrics of autonomic depression might expedite the diagnosis of NEC and its severity in a clinically meaningful manner. Clearly, these studies need to be extended prospectively to determine the diagnostic utility of this approach.