| 1. |
- Bhat, Misha, et al.
(författare)
-
Longitudinal Validation of the Diastolic to Systolic Time–Velocity Integral Ratio as a Doppler-Derived Measure of Pulmonary Regurgitation in Patients with Repaired Tetralogy of Fallot
- 2017
-
Ingår i: Pediatric Cardiology. - : Springer Science and Business Media LLC. - 0172-0643 .- 1432-1971. ; 38:2, s. 240-246
-
Tidskriftsartikel (refereegranskat)abstract
- Pulmonary regurgitation (PR) is a common residual lesion and major determinant of outcome following surgical repair for tetralogy of Fallot. We sought to longitudinally study a previously described echocardiographic index as a correlate of PR measured by cardiac magnetic resonance imaging (CMR). We conducted a retrospective longitudinal study of patients with baseline and follow-up echocardiogram and CMR. The baseline studies were obtained as part of a research protocol, while the follow-up studies were performed for clinical purposes. On echocardiogram, the ratio of diastolic and systolic time–velocity integrals (DSTVI) in the main pulmonary artery was calculated. The Wilcoxon matched-pairs signed-rank test was used to test for individual changes in PR on echocardiogram and CMR. A linear regression of pulmonary valve regurgitant fraction (RF) was fit on DSTVI to identify clinically meaningful cut points of DSTVI. Thirty-five subjects were included, age at follow-up 18.3 ± 3.5 years. The follow-up between consecutive CMRs was a median time of 60 months (interquartile range 46–73). There was a moderate correlation between DSTVI and PR measured as RF by CMR (r = 0.62, p = 0.0001). A CMR RF of 20 and 40 % (the boundaries between mild/moderate and moderate/severe PR) corresponded with DSTVI of 0.52 and 0.79 (95 % CI 0.39; 0.66, and 0.69; 89), respectively. There was no significant change in either DSTVI (p = 0.61) or PR (p = 0.89) from baseline to follow-up. This study lends further credence to the DSTVI as an accurate reflection of PR. This index might become helpful in the routine echocardiographic assessment of PR. Further studies are needed to determine whether changes in RF by CMR result in changes in DSTVI.
|
|
| 2. |
- Freud, Lindsay R., et al.
(författare)
-
Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age
- 2024
-
Ingår i: American Journal of Obstetrics and Gynecology. - 0002-9378 .- 1097-6868. ; 230:3
-
Tidskriftsartikel (refereegranskat)abstract
- Background: The 22q11.2 deletion syndrome is the most common microdeletion syndrome and is frequently associated with congenital heart disease. Prenatal diagnosis of 22q11.2 deletion syndrome is increasingly offered. It is unknown whether there is a clinical benefit to prenatal detection as compared with postnatal diagnosis. Objective: This study aimed to determine differences in perinatal and infant outcomes between patients with prenatal and postnatal diagnosis of 22q11.2 deletion syndrome. Study Design: This was a retrospective cohort study across multiple international centers (30 sites, 4 continents) from 2006 to 2019. Participants were fetuses, neonates, or infants with a genetic diagnosis of 22q11.2 deletion syndrome by 1 year of age with or without congenital heart disease; those with prenatal diagnosis or suspicion (suggestive ultrasound findings and/or high-risk cell-free fetal DNA screen for 22q11.2 deletion syndrome with postnatal confirmation) were compared with those with postnatal diagnosis. Perinatal management, cardiac and noncardiac morbidity, and mortality by 1 year were assessed. Outcomes were adjusted for presence of critical congenital heart disease, gestational age at birth, and site. Results: A total of 625 fetuses, neonates, or infants with 22q11.2 deletion syndrome (53.4% male) were included: 259 fetuses were prenatally diagnosed (156 [60.2%] were live-born) and 122 neonates were prenatally suspected with postnatal confirmation, whereas 244 infants were postnatally diagnosed. In the live-born cohort (n=522), 1-year mortality was 5.9%, which did not differ between groups but differed by the presence of critical congenital heart disease (hazard ratio, 4.18; 95% confidence interval, 1.56–11.18; P<.001) and gestational age at birth (hazard ratio, 0.78 per week; 95% confidence interval, 0.69–0.89; P<.001). Adjusting for critical congenital heart disease and gestational age at birth, the prenatal cohort was less likely to deliver at a local community hospital (5.1% vs 38.2%; odds ratio, 0.11; 95% confidence interval, 0.06–0.23; P<.001), experience neonatal cardiac decompensation (1.3% vs 5.0%; odds ratio, 0.11; 95% confidence interval, 0.03–0.49; P=.004), or have failure to thrive by 1 year (43.4% vs 50.3%; odds ratio, 0.58; 95% confidence interval, 0.36–0.91; P=.019). Conclusion: Prenatal detection of 22q11.2 deletion syndrome was associated with improved delivery management and less cardiac and noncardiac morbidity, but not mortality, compared with postnatal detection.
|
|
