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The cause of PHACE syndrome is unknown. In a study of 218 patients, we examined potential prenatal risk factors for PHACE syndrome. Rates of pre-eclampsia and placenta previa in affected individuals were significantly greater than in the general population. No significant risk factor differences were detected between male and female subjects., (Copyright © 2017 Elsevier Inc. All rights reserved.)

Aims: In adults with coarctation of the aorta (CoA), hypertension (HTN) is a common long-term complication. We investigated the prevalence of HTN and analyzed factors associated with HTN., Methods and Results: In the national register for congenital heart disease, 653 adults with repaired CoA were identified (mean age 36.9±14.4years); 344 (52.7%) of them had HTN, defined as either an existing diagnosis or blood pressure (BP) ≥140/90mmHg at the clinical visit. In a multivariable model, age (years) (odds ratio [OR] 1.07, CI 1.05-1.10), sex (male) (OR 3.35, CI 1.98-5.68), and body mass index (kilograms per square meter) (OR 1.09, CI 1.03-1.16) were independently associated with having HTN, and so was systolic arm-leg BP gradient where an association with HTN was found at the ranges of (10, 20] and >20mmHg, in comparison to the interval ≤10mmHg (OR 3.58, CI 1.70-7.55, and OR 11.38, CI 4.03-32.11). This model remained valid when all patients who had increased BP (≥140/90mmHg) without having been diagnosed with HTN were excluded from the analyses., Conclusions: Hypertension is common in patients with previously repaired CoA and is associated with increasing age, male sex, and elevated body mass index. There is also an association with arm-leg BP gradient, starting at relatively low levels that are usually not considered for intervention., (Copyright © 2016 Elsevier Inc. All rights reserved.)

Objective: To determine the prevalence of Turner syndrome in girls presenting with coarctation of the aorta (CoA)., Study Design: A total of 132 girls with known structural CoA was identified. Those girls who had no previous karyotype analysis performed were asked to participate in a research study in which a banded karyotype with 50-cell count was performed., Results: Of 132 girls with CoA, 55 (41.7%) had karyotype analysis within 6 months of cardiac diagnosis. Three girls underwent karyotyping later because of clinical concerns. Of the 74 girls with CoA who had not had a karyotype, 38 (51.4%) consented to the study. Results were available for 37 girls. All were 46,XX. Five patients with Turner syndrome were identified in the 95 girls with CoA who had karyotype analysis (4 from early karyotype and 1 diagnosed later), which translated into a minimum prevalence of 5.3% of Turner syndrome in this group of girls with CoA. In addition, one infant with a 20-cell 46,XX karyotype had features of Turner syndrome., Conclusion: Our study demonstrated for the first time in a large cohort that 5.3% of girls presenting with CoA are found to have Turner syndrome when karyotyping is performed. Given the spectrum of preventable and treatable health problems after the diagnosis of Turner syndrome, we believe that all girls with CoA should have a karyotype analysis, ideally with at least 50-cell count, at the time of diagnosis of CoA., (Copyright © 2014 Mosby, Inc. All rights reserved.)

Objectives: To determine by 24-hour blood pressure monitoring the risk of hypertension late after coarctation repair in patients with arch hypoplasia., Methods: Sixty-two of 116 consecutive patients (age, ≥10 years) who had coarctation repair and were quoted subjectively by the surgeon or the cardiologist to have arch hypoplasia at the time of the repair underwent a transthoracic echocardiogram and 24-hour blood pressure monitoring. Median age at repair was 11 days (range, 6-48 days). Mean preoperative z score of the proximal transverse arch was -2.43 ± 0.46. Eight patients had a repair via sternotomy (6 end-to-side anastomoses, 2 patch repairs) and 54 had a conventional repair via thoracotomy., Results: After a follow-up of 18 ± 5 years, 27% of the patients (17/62) had resting hypertension and 60% (37/62) had abnormal ambulatory blood pressure. Sensitivity of high resting blood pressure in detecting an abnormal 24-hour ambulatory blood pressure was 41%. Twenty patients had arch obstruction at last follow-up. Eighteen of them (90%) had abnormal ambulatory blood pressure. None of the patients operated on with end-to-side repair via sternotomy had reobstruction compared with 33% (18/54) of those repaired via thoracotomy., Conclusions: Patients with a hypoplastic arch operated via thoracotomy have an alarming prevalence of hypertension. Regular follow-up with 24-hour ambulatory blood pressure monitoring is warranted, especially in patients who have had a smaller aortic arch at the time of the initial operation., (Crown Copyright © 2012. Published by Mosby, Inc. All rights reserved.)

Objective: Hypoplastic left heart syndrome is a major congenital heart defect and is associated with significant morbidity and mortality. Its etiology remains unknown although genetic studies imply complex inheritance. Anecdotal reports of cluster presentations suggest the possible involvement of an environmental component, although previous epidemiologic studies have been of limited scope. The objective of this study was to examine seasonal and temporal patterns of hypoplastic left heart syndrome births compared with other left-sided heart defects in the United States., Methods: We conducted a retrospective analysis of the Pediatric Health Information System inpatient database from pediatric hospitals across the country from 1996 to 2006. Population and index case patterns were analyzed for each diagnostic category. An epidemiologic survey was performed through time-series analyses using Fisher's Kappa test and the Bartlett Kolmogorov-Smirnov test. The existence and strength of seasonality for the left-sided heart defects was quantified by the autoregression R2., Results: A seasonal occurrence was found in hypoplastic left heart syndrome but not other left-sided heart diseases. Significant seasonal differences occurred each year, with peaks in summer months and troughs in winter months. The seasonality inversely correlated with the incidence of chromosomal and extracardiac anomalies; such anomalies were highest in interrupted aortic arch, which had a random pattern of presentation., Conclusions: There is a significant seasonal pattern in the presentation of hypoplastic left heart syndrome, with preponderance in summer months, in contrast to the random pattern in other left-sided heart diseases. Further studies are warranted to identify the influence of potential environmental factor(s) in hypoplastic left heart syndrome, as seen in diseases with seasonal patterns., (Copyright © 2011 The American Association for Thoracic Surgery. Published by Mosby, Inc. All rights reserved.)

Objectives: Although aneurysm formation and recoarctation after Dacron patch aortoplasty have been reported on extensively, less is known about these outcomes after polytetrafluoroethylene patch repair, which was compared with resection and end-to-end anastomosis in this study., Methods: Two hundred sixty-two children had surgical repair of coarctation of the aorta by means of either resection and end-to-end anastomosis (n = 137; mean age, 1.85 +/- 3.1 years) or polytetrafluoroethylene patch aortoplasty (n = 118; mean age, 1.09 +/- 1.9 years) during a 28-year period. Coarctation was isolated in 109 (41.6%), associated with ventricular septal defect in 77 (29.4%), and associated with complex intracardiac anomalies in 76 (29.0%) patients. Follow-up ranged from 2 days to 29.3 years (median, 11.9 years). Seven patients were lost to follow-up. Kaplan-Meier survival curves were estimated, and multivariable Cox regression analysis was performed for several outcome variables., Results: Mortality was 8.2% and was associated with intracardiac pathology in all cases. Recoarctation occurred in 53 patients, 23 after resection and anastomosis and 30 after patch repair, not differing statistically (P =.4, log-rank test). Aneurysm formation occurred in 8 patients after patch repair that included ridge resection in 7 of the 8 patients. Late hypertension occurred in less patients (n = 3) after resection and anastomosis than after patch repair (n = 8) (P <.03). Arch hypoplasia (P <.01) and age less than 1 month (P <.001) were found to be independent risk factors for recoarctation., Conclusions: Polytetrafluoroethylene patch repair including coarctation ridge resection was found to be a risk factor for aneurysm formation and late hypertension. Arch hypoplasia and young age must be considered to predispose to recoarctation.

Background: Repair of aortic coarctation is often delayed in small infants because of the belief that such patients are at risk of recurrent arch obstruction and that growth will decrease this risk. To determine whether low weight was a risk factor for recurrent arch obstruction, we reviewed our experience with coarctation repair via left thoracotomy in infants less than 3 months of age., Methods: From 1990 to 1999, 103 patients less than 3 months of age underwent repair of aortic coarctation through a left thoracotomy. Median age was 18 days (1-90 days), with 45 patients less than 2 weeks. Median weight was 3.3 kg (1.0-6.4 kg) and 14 patients were less than 2 kg. The method of repair was resection and end-to-end anastomosis in 64 patients, subclavian flap angioplasty in 34, and patch augmentation of the arch in 5. Demographic, echocardiographic, and operative variables were analyzed for correlation with recurrent arch obstruction., Results: One early and 1 late death occurred, both in patients who had complications but no evidence of recoarctation. At median follow-up of 24 months, reinterventions for recurrent arch obstruction were performed in 15 patients. The median time to reintervention was 5 months and was less than 1 year in 12 patients. Kaplan-Meier freedom from arch reintervention was 88% at 1 year (95% confidence intervals: 82%-94%) and 82% at 5 years (95% confidence intervals: 72%-92%). Factors associated with shorter duration to arch reintervention by univariable Cox regression included younger age (continuous, P =.01; <2 weeks, P =.005), smaller transverse arch (absolute diameter, P <.001; indexed to weight, P =.03; indexed to ascending aortic diameter, P =.02), and smaller ascending aorta (absolute diameter, P =.02). Smaller absolute transverse arch diameter and younger age were the only independent predictors of shorter time to arch reintervention by multivariable Cox regression analysis. Weight and type of repair did not correlate with risk of recoarctation., Conclusions: Low weight is not a risk factor for recurrent obstruction after repair of coarctation of the aorta in infants less than 3 months of age. Rather, risk of recoarctation is more a function of the anatomy of the arch. Thus, it is not indicated to delay repair in low weight infants with the goal of achieving growth.

Coarctation of the aorta and associated ventricular septal defect may be repaired simultaneously or by initial coarctation repair with or without banding of the pulmonary artery. The question is whether specific preoperative criteria can enable the surgeon to choose the optimal surgical management. Between 1980 and 1993, 80 infants younger than 3 months with coarctation and ventricular septal defect were treated surgically. In 64 infants (multistage group), simple coarctation repair was performed through a posterolateral approach, with concomitant banding of the pulmonary artery in 10 infants. Twenty ventricular septal defects were closed as a secondary procedure and four were closed as a tertiary procedure. Sixteen infants (single-stage group) underwent one-stage repair through an anterior midline approach. The total in-hospital mortality rate was 7.5%. Freedom from recoarctation after 5 years was 91.3% in the multistage group versus 60.0% in the single-stage group (p = 0.018). Freedom from secondary ventricular septal defect treatment in the multistage group after 5 years was 40.7%, versus 100% in the single-stage group (p = 0.016). Thirty-seven ventricular septal defects (47.8%) closed spontaneously. In particular, the preoperative left-to-right shunt and extension of the perimembranous VSD into the inlet or outlet were risk factors for the need for eventual surgical ventricular septal defect closure after initial coarctation repair. On the basis of these two risk factors, the probability of the need for eventual surgical treatment of ventricular septal defect after initial coarctation repair can be calculated. This policy offers a well-considered choice between single-stage and multistage repair, weighing the risk of secondary ventricular septal defect treatment versus the risk of recoarctation. Finally, the number of surgical procedures per infant will be as low as possible.

Despite gratifying immediate results, significant recoarctation at follow-up has been observed after balloon angioplasty of native aortic coarctation. Risk factors for such recurrences have been identified in one of our previous studies. In this study we examined the value of these risk factors in the prediction of recoarctation after balloon angioplasty. During a 6-year period ending in September 1993, 37 infants and children aged 2 days to 15 years underwent balloon angioplasty of native coarctation with resultant reduction in coarctation gradient from 45 +/- 17 (mean +/- SD) to 12 +/- 9 mm Hg (p < 0.001). On the basis of results of 4- to 48-month follow-up catheterization in 30 children, recoarctation developed in 8 (27%) children. The data from these patients were scrutinized to identify subjects that exhibited the previously determined risk factors, namely age < 12 months, size of aortic isthmus less than two thirds the size of the ascending aorta, coarcted aortic segment < 3.5 mm before angioplasty, and coarcted segment < 6.0 mm after angioplasty. Then, thirty variables (Table I) were examined by logistic regression to identify factors responsible for recoarctation; the data from both study groups were combined for this analysis. The prevalence of recoarctation in each subgroup with a given number of risk factors is similar (p < 0.1) to that observed in the initial study identifying the risk factors. In addition, logistic regression identified age (p = 0.014), size of isthmus (p = 0.006), preangioplasty coarcted segment (p = 0.01), and postangioplasty coarcted segment (p = 0.006) as risk factors.(ABSTRACT TRUNCATED AT 250 WORDS)

Although the diagnosis of coarctation of the aorta in the full-term neonate is straightforward when no ductus arteriosus is present, identification of coarctation of the aorta when a ductus arteriosus is patent can be difficult. A patent ductus arteriosus is frequently found in association with coarctation of the aorta, and it may remain open for many days. Thus a reliable method to rapidly identify coarctation of the aorta would obviate the need for cardiac catheterization or an in-hospital observation period until the ductus arteriosus closes spontaneously. Echocardiographic/Doppler examination of 19 consecutive full-term neonates with a birth weight of > 2.9 kg, who subsequently underwent surgical repair of coarctation of the aorta, were reviewed. Fourteen patients with similar weights, a patent ductus arteriosus, and a normal aortic arch were matched for comparison. Based on the findings, the following diagnostic criteria for coarctation of the aorta are suggested: isthmic diameter less than or equal to 3 mm or isthmus equal to 4 mm together with the Doppler finding of continuous antegrade flow in the isthmal segment. Coarctation of the aorta in the full-term neonate can be ruled out when the flow within the ductus arteriosus is exclusively from aorta to pulmonary artery or when the isthmic diameter is equal to or greater than 5 mm.

Surgical treatment of a hypoplastic aortic arch associated with an aortic coarctation is controversial. The controversy concerns the claimed need to surgically enlarge the diameter of the hypoplastic arch, in addition to resection and end-to-end anastomosis. The purpose of this prospective study is to determine the fate of the hypoplastic aortic arch after resection of the aortic coarctation and end-to-end anastomosis. Between July 1, 1988, and January 1, 1990, 15 consecutive infants less than 3 months of age with an aortic coarctation were evaluated echocardiographically. A Z-value was calculated, being the number of standard deviations the aortic arch differs from the expected value, derived from a control group. Eight of these 15 infants had a hypoplastic aortic arch with a mean Z-value of -7.14 +/- 1.39. The other seven infants had a "normal" aortic arch with a mean Z-value of -1.85 +/- 1.08. All 15 infants underwent simple coarctation resection and end-to-end anastomosis. Six months after operation the mean Z-value increased significantly in those with a hypoplastic arch to -1.08 +/- 0.69 (p less than 0.0001) and in those with a "normal" aortic arch to 0.106 +/- 0.99 (p = 0.004). No infant died in our series (0%; CL 0% to 12%) and a recoarctation developed once (12.5%; CL 2% to 36%). Therefore we believe that simple resection and end-to-end anastomosis is the operation of choice for aortic coarctation associated with a hypoplastic aortic arch despite the presence of a ventricular septal defect and that enlargement of the hypoplastic aortic arch is not necessary.

Twenty-three adolescent and adult patients with native coarctation of the aorta underwent balloon dilatation. Dissection of the aorta developed in one patient. Data were collected on the remaining 22 patients. They ranged in age from 15 to 55 years (mean 23 +/- 9.2 years). Invasive measurement of the peak systolic gradient (PSG) and biplane angiography were performed before and immediately after angioplasty and at follow-up 4 to 48 months (mean 15 months) later. PSG before dilatation was 37 to 100 mm Hg (mean 66.9 +/- 19.9 mm Hg) and decreased to 0 to 30 mm Hg (mean 9.1 +/- 11 mm Hg) immediately after dilatation (p less than 0.001). Restenosis occurred in two patients 6 months after dilatation, and one patient had an incomplete dilatation. These three patients underwent successful redilatation and remained improved 12 to 19 months later. There was no significant change in gradient at repeat catheterization in the remaining 20 patients. PSG was 0 to 20 mm Hg (mean 5.8 +/- 7.2 mm Hg). Angiography showed that a small aneurysm developed in one patient immediately after dilatation and in another 6 months later. Eleven patients were restudied more than once, and no change in gradient or size of the aneurysm was noted at mean follow-up 25 months after dilatation. This study demonstrated that balloon angioplasty is an effective method of treating adolescent and adult patient with native coarctation of the aorta. However, because of the uncertain natural history of aneurysm after dilatation, this procedure should be considered investigational until much longer follow-up times are available.

Balloon angioplasty of native coarctation of the aorta was performed in 35 consecutive adolescents and young adults, aged 14 to 37 years (mean 22.6 +/- 7.1). Twenty-eight (80%) patients had isolated discrete coarctation, six (17.1%) had tubular hypoplasia of the aortic isthmus, and one (2.9%) had hypoplasia of the post-coarctation aorta. The peak systolic pressure gradient decreased from 78.5 +/- 23.9 to 15.7 +/- 11.6 mm Hg (p less than 0.001), and the mean coarctation diameter increased from 4.7 +/- 2.4 to 13.1 +/- 2.7 mm (p less than 0.001) immediately after angioplasty. Patients with discrete-type coarctation had significantly less residual gradient than patients with long-segment tubular coarctation (12.3 +/- 10.7 vs 27.2 +/- 6.6 mm Hg, p less than 0.01). On recatheterization and angiography in 26 patients at 12.6 +/- 1.5 months after dilatation, there was no significant change in gradient (15.5 +/- 13.3 mm Hg) and diameter (13.1 +/- 1.8 mm) from the immediate post-angioplasty results. However, two patients had an increase in gradient and three had small aortic aneurysms with no change in appearance on restudy after 2 years. After 3 to 67 months' (mean 32.7 +/- 19.2) follow-up, all patients showed continued clinical improvement. Hypertension was relieved in 37.5% (12/32) and improved in 59.4% (19/32). Our experience suggests that balloon angioplasty of native aortic coarctation in adolescents and young adults is safe and highly effective with sustained improvement on intermediate-term follow-up.

The purpose of this article is to present immediate and follow-up results of balloon angioplasty of aortic recoarctations following previous surgery in infants and children. During a 45-month period that ended in June 1989, nine infants and children, ages 6 months to 7 years, underwent balloon angioplasty of recoarctation with resultant reduction in peak-to-peak systolic pressure gradient from 52 +/- 20 mm Hg (mean +/- SD) to 16 +/- 8 mm Hg (p less than 0.001) and increase in coarctation segment size from 3.4 +/- 1.4 mm to 6.1 +/- 1.6 mm (p less than 0.01). None required surgical intervention. There were no significant complications. Follow-up catheterization (16 +/- 7 months) data in six children and follow-up clinical (17 +/- 6 months) data in all children were available for review. Both the residual coarctation pressure gradient (6 +/- 6 mm Hg) and coarctation segment size (8.2 +/- 2.4 mm) remain improved (p less than 0.001) when compared with pre-balloon angioplasty values and the pressure gradient fell further (p less than 0.01) when compared with that measured immediately after balloon angioplasty. None developed restenosis, although one child required surgical relief of severe narrowing of isthmus of the aortic arch. None developed aneurysms. On the basis of this experience and that reported in the literature and because of high morbidity and mortality rates associated with repeat surgery for postoperative recoarctation, we recommend balloon angioplasty as the procedure of choice for relief of postoperative recoarctation with significant hypertension.