Background: Single-center research suggests that increased vertebral artery tortuosity is a biomarker of adverse cardiovascular events in young patients with Marfan and Loeys-Dietz syndromes (MFS and LDS). The objective of our study was to validate this finding in a larger, multicenter population with focus on specific cardiovascular events. Methods: Patients were included from the National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) or our institutional Cardiovascular Genetics Clinic, with MFS or LDS (caused by TGFBR1/2 mutations) who underwent magnetic resonance or computed tomography angiography (MRA/CTA) Results: A total of 203 patients were included. A VTI ≥ 50 was associated with earlier aortic surgery, earlier Type A and B aortic dissections, and more frequent aortic surgery (Table). In all multivariable models containing VTI and diagnosis, VTI retained significant association with the outcome, while the diagnosis of LDS versus MFS did not. For prophylactic aortic surgery, VTI remained significant when controlling for both diagnosis and maximum aortic dimension. Aortic dimensions were only available for 5 patients prior to Type A aortic dissection; those with VTI ≥ 50 (n=3) had a median dimension of 4.29 cm (range 4.02, 5.17) at dissection versus 5.88 cm (range 4.88,6.88) in those with VTI Conclusions: In this multicenter study, VTI ≥ 50 is a marker of earlier adverse events in patients

Background: Arterial tortuosity is emerging as an imaging marker of adverse events in aortopathy, but quantification has focused on patients with Marfan and Loeys-Dietz syndromes. Our objective was to characterize vertebral artery tortuosity among a variety of aortopathy phenotypes and genotypes. Methods: We performed a retrospective analysis of patients ≤50 years old with at least one of the following: aortic dilation or dissection, bicuspid aortic valve (BAV), or a genotype associated with aortopathy. Patients included were either enrolled in GenTAC or were cared for at our institution, and had undergone a magnetic resonance or computed tomography angiogram that included the vertebral arteries. The disease-causing gene mutation was available for a subset of the patients. The vertebral artery tortuosity index (VTI) was utilized to quantify tortuosity, and was compared among phenotypes and genotypes. Increased tortuosity was defined as ≥2SD above the mean VTI of previously reported controls undergoing evaluation to exclude arrhythmogenic right ventricular dysplasia (mean 4.5±2.5, cutoff=10.5). Results: We included 456 patients, of median age 29 years (IQR 15-40 years), and 58% male. The figure shows VTI by phenotype and genotype. VTI was higher in all phenotypic groups than controls (p ≤0.01 for all). All genotypes (for which n>1) had increased VTI compared to controls (p≤0.01 for all). Patients with TGFBR2 mutations had significantly greater VTI (median 59, IQR 20-85) than those with FBN1 mutations (median 25, IQR 13-51, p=0.01); there was no difference in VTI between TGFBR1 (median 19, IQR 12-64) and FBN1 mutations (p=0.79). There was no overall correlation between age and VTI; when evaluated by diagnosis, there was a weak correlation in MFS (Spearman's rho=0.213, p=0.01). Conclusions: Increased arterial tortuosity as measured by VTI is present in many phenotypes and genotypes associated with aortopathy, and is not limited to those with mutations in TGFBR1/2.

Background In pilot studies, increased vascular tortuosity is associated with adverse outcomes in children and young adults withheritable thoracic aortic disease, specifically Marfan syndrome (MFS) and Loeys Dietz syndrome (LDS). It is known that vertebral artery tortuosity is highly prevalent in older adults who do not have heritable thoracic aortic disease. We hypothesized that tortuosity increases with age in patients with aortic disease <50 years old.

Background: Little is known about reliable predictors of thoracic aortic dissection or rupture (TAD) in children and young adults. We sought to determine whether elevated vertebral artery tortuosity is a biomarker of TAD or aortic surgery at an early age. Methods: We identified 208 patients ≤50 years old in the GenTAC Registry who had ≥2.5 cm of either vertebral artery visualized on a computed tomography angiogram (CTA). In a blinded fashion, using a volume-rendered projection, each patient’s vertebral artery tortuosity index (VTI) was calculated using the larger distance factor (% by which actual length exceeds straight-line length) of the two vertebral arteries. We then investigated associations between VTI and freedom from prophylactic or post-TAD surgery. Results: Subjects included 73 with Marfan syndrome (MS), 34 with bicuspid aortic valve, 18 with Loeys-Dietz syndrome (LDS), 16 with familial thoracic aneurysms and dissections, 12 with Ehlers-Danlos syndrome type IV (EDS), 6 with congenital heart disease, and 49 with other aneurysms and dissections. Median age was 38.5 years [interquartile range (IQR) 29.6-44.6]; 23 were ≤18 years. Indication for first surgery was prophylactic in 80 patients and TAD in 49. VTI was highest in LDS (median 50, IQR 21-72), followed by MS (median VTI 27, IQR 16-52), and lowest in EDS (median 7, IQR 4-13). VTI was not associated with age at CTA. When controlling for diagnosis and race/ethnicity, higher VTI was associated with younger age at prophylactic surgery [HR 1.28, 95%CI 1.09-1.50 for every increase in VTI of 20 (VTI20)] and at surgery for TAD (HR 1.38, 95%CI 1.13-1.69 for VTI20). There was no difference in freedom from prophylactic or post-TAD surgery among LDS and MS subgroups (adjusted p=0.95 and p=0.17 respectively). In patients ≤18 years, the association between increased VTI and age at prophylactic surgery was strongest: HR 1.73 (95%CI 1.11-2.69 for VTI20). One patient ≤18 had TAD with VTI 105. Conclusions: Increased vertebral artery tortuosity is associated with earlier thoracic aortic surgery and dissection in patients under 50 years, and may be most predictive in children. VTI can identify patients at high risk for TAD who may benefit from targeted therapies.

Objective: The study objective was to evaluate risk factors for poor weight gain in infants with hypoplastic left heart syndrome after stage 1 palliation.Methods: We reviewed all term infants with hypoplastic left heart syndrome who had stage 1 palliation and stage 2 palliation at Texas Children's Hospital between 2000 and 2011 ( n = 120). Predictor variables included age at stage 1 palliation, intensive care unit factors, calories delivered, and echocardiographic findings. Outcome variables included weight for age Z scores at hospital discharge, stage 2 palliation, and change in weight for age Z scores between stage 1 palliation and hospital discharge.Results: Complete nutritional data were available for 47 of 120 patients. Median total parenteral nutrition duration was 6 days (range, 1-43 days), and median intensive care unit calories delivered was 53.9 kcal/kg/d (range, 22.3-119.6 kcal/kg/d). Before hospital discharge, the median caloric intake was 106.7 kcal/kg/d ( range, 70.0-152.0 kcal/kg/d). Median weight for age Z scores was -0.59 (range, -3.6 to 0.5) at stage 1 palliation, - 1.62 ( range, -4.5 to -0.1) at intensive care unit transfer, and -1.81 (range, -4.9 to - 0.5) at hospital discharge. A total of 46 of 47 patients had a negative change in weight for age Z scores between stage 1 palliation and hospital discharge, with a median change of -1.14 (range, -2.3 to 0.6). Change in weight for age Z scores from stage 1 palliation to discharge was directly associated with calories delivered and indirectly associated with hospital length of stay and moderate tricuspid regurgitation ( P < .001).Conclusions: Postoperative nutrition fails to meet the needs of infants with hypoplastic left heart syndrome despite increased focus on nutritional support. Modifiable factors (eg, nutritional intake) and hemodynamic factors (eg, tricuspid regurgitation) may play roles in the poor weight gain of these infants.

Background Turner syndrome is associated with bicuspid aortic valve (BAV), coarctation of the aorta, aortic dilation, and aortic dissection. Vertebral artery tortuosity, as demonstrated by magnetic resonance angiography (MRA), is increased in other disorders associated with thoracic aortic dilation and dissection, including Marfan syndrome and Loeys-Dietz syndrome, and increased tortuosity is associated with earlier adverse cardiovascular outcomes in those groups. We investigated the association between vertebral artery tortuosity and aortic pathology in patients with Turner syndrome.

Device closure of atrial septal defect (ASD) is commonly performed in older children and adults. Infants and toddlers (age <4 years) are seldom referred for ASD closure due to size constraints. However, in many cases device ASD closure can be performed in this population. Between 2002 and 2012, 61 infants and toddlers were taken to the catheterization laboratory at our institution for ASD closure. Precatheterization transthoracic echocardiograms, intracatheterization transesophageal echocardiograms, and catheterization reports were reviewed. Fifty-three infants and toddlers presented for percutaneous ASD occlusion. Forty-eight (79 %) underwent successful closure, and 13 were referred for surgery without device attempt ( n = 8) or after unsuccessful device occlusion ( n = 4). Median age and weight at time of ASD closure were 2.99 years (range 0.3–3.8) and 11.7 kg (range 3.7–16.5). The device-to-septal length ratio was 0.81 (range 0.44–1.03). The 12 unsuccessful cases occurred in patients with larger defects (ASD diameter 17.5 ± 6.1 vs. 12.1 ± 4.2, p < 0.01). Deficient rims (absent or ≤4 mm) were seen in 9 of 12 (75 %) unsuccessful cases and in 19 of 41 (46 %) successful cases ( p = 0.12). Multivariate analysis showed that patient size and ASD size were not independently associated with procedural success but that ASD size-to-patient weight ratio <1.2 (hazard ratio 9.5 [range1.7–17]) was associated with successful ASD closure. ASD device occlusion can be safely achieved in small children. An ASD size-to-patient weight ratio >1.2, not absolute patient weight or age, is associated with failure of the percutaneous approach. The midterm outcomes in these young patients are excellent.

Introduction: Exercise capacity is associated with mortality and morbidity in Fontan patients. Debate continues about modifiable factors impacting exercise. Hypothesis: We assessed the hypothesis that later Fontan completion and larger branch pulmonary arteries are associated with better exercise. Methods: We performed a retrospective review of exercise stress test (EST) data from 2003 to 2011 in Fontan patients undergoing the Bruce protocol. The primary marker of performance was percent of predicted maximum oxygen consumption (%MVO 2 ). Pulmonary artery caliber was assessed using tomographic or angiographic imaging, and included if imaging was performed four years before or after the EST. Imaging or catheterization data were excluded if surgical or catheterization based interventions were performed such that a patient's anatomy changed between the time of EST and imaging. Analysis was performed on the entire cohort and a Current Era group defined as patients who underwent Glenn ≤ 1 year, did not have a pacemaker at EST, and achieved a respiratory exchange ratio ≥1.0. Results: During the study period, 144 patients were identified (mean age 13.7 ± 5.3 years). Among Current Era patients (n = 55), both older age at Fontan (R = 0.286, p = 0.034) and Nakata index (R = 0.389, p = 0.049) were positively associated with %MVO 2 . There were negative associations between time from Fontan to EST (R = -0.367, p = 0.006) and Fontan pressure (R = -0.501, p = 0.015). For the entire cohort, longer time from Fontan to EST (R = -0.461, p < 0.001) and higher Fontan pressure (R = -0.271, p = 0.046) were associated with diminished performance. In both groups, multivariable regression was performed for variables that were significantly correlated ( p < 0.05) with %MVO 2 . Time from Fontan to EST was significant for Current Era patients (slope coefficient -3.2, p = 0.010) and the entire cohort (slope coefficient -1.6, p = 0.005). Conclusion: Older age at Fontan after Glenn and shorter time from Fontan to EST are associated with higher %MVO 2 , suggesting that Fontan completion should be delayed in the current era. Smaller Nakata index and elevated Fontan pressure negatively correlate with %MVO 2 , providing a rationale for intervening on stenotic pulmonary arteries.

Health literacy awareness and improved communication have been identified as key factors that may reduce hospital re-admission rates, and increase both patient satisfaction and patient outcomes. 1 Brinkman WB Geraghy SR Lanphear BP et al. Effect of Multisource Feedback on Resident Communication Skills and Professionalism.. Arch Pediatr Adolesc Med. 2007; 161: 44-49 Crossref PubMed Scopus (112) Google Scholar , 2 Nuovo J Bertakis ED Rahman A. Assessing residents knowledge and communication skills using four different evaluation tools. Medical Education. 2006; 40: 630-636 Crossref PubMed Scopus (16) Google Scholar , 3 lssenberg SB McGaghie WC Petrusa ER et al. Features and uses of high-fidelity medical simulations that lead to effective learning: a BEME systematic review. Medical Teacher. 2005; 27: 10-28 Crossref PubMed Scopus (2121) Google Scholar Recent studies have confirmed that lack of attention to context of care can lead to medical errors. 4 Alan Schwartz Weiner SJ Harris IB et al. An Educational Intervention for Contextualizing Patient Care and Medical Students' Abilities to Probe for Contextual Issues in Simulated Patients. JAMA. 2010; 304: 1191-1197 Crossref PubMed Scopus (39) Google Scholar The ACGME requires programs to teach and assess these skills in our residents. This study is a pre-post design to assess the efficacy of a multi-modal educational intervention to improve the communication skills of pediatric residents specifically in the areas of context of care and performing “teach-back” in their encounters. First year pediatrics and combined medicine-pediatrics residents (n=25) participated in a structured simulation session with standardized patients with a case of a child with a complex psycho-social history. Videos of the sessions were reviewed and scored by 2 faculty members and a social work supervisor. Discrepancies in the scoring were resolved with a majority rule. Evaluators’ checklists were modified from validated tools4 to assess contextual factors and the use of “teach-back”. Residents were presented with their individual feedback from their session and participated in a group feedback session that focused on “teach-back” and context of care. Each resident then participated in a follow-up simulation session, which was scored using the same methods as the first session. There was a significant increase in use of “teach-back” (p<.001), with 2/25 residents doing “teach-back” at initial session and 17/25 residents doing “teach-back” at follow-up session. An increase was also noted in questions related to the patient’s ability to obtain the medications prescribed at the visit. 12/25 residents asked this in the initial session and 24/25 asked in the follow-up session (p=.002). A structured curriculum including simulation may be a useful educational modality for improving communication skills in pediatric residents.

Background: Children with Shone's Complex (SC) have multiple levels of left heart obstruction and often require a number of left heart interventions. They are at risk of long-term morbidity and mortality. However, long-term outcomes in children with SC are limited. Methods: SC was defined as a mitral valve (MV) anomaly and ≥ 1 other left heart obstructive lesion including coarctation of the aorta (CoA), subvalvar, supravalvar and aortic valvar stenosis (AS). MV morphology type was classified as typical (MVtyp) - hypoplastic annulus, thickened leaflets; mitral ring (MVr); arcade or other papillary muscle anomaly (MVarc); parachute (MVpap); and other including double-orifice (MVo). Pts who underwent Norwood palliation were excluded. We reviewed overall outcomes and focused on the impact of pulmonary hypertension (PH) and pre-existing atrial septal defect (ASD) on left heart growth, number of interventions, and death/transplant (OHT). Results: A total of 129 SC pts presented at 35d (0d - 18yrs) of age and were followed for 7.0 ± 6.8 years. MV morphology included MVtyp (n=89, 68%), MVr (n=23, 18%), MVpap (n=21, 16%), MVarc (n=25, 19%). A total of 113 pts underwent 232 (median 2, 0-5) interventions including ASD closure (n=49), VSD closure (n=30), AVR (n=8), MVR (n=10), MV repair (n=39), AS repair (n=37), balloon valvuloplasty (n=36) and CoA dilation/repair (n=60). Pre-intervention, ASD was associated with lower mean LA pressure 11.7±5.6 vs 18.5±6.5 mmHg (p=0.02) and lower mitral gradient 5.3 ± 5.6 vs 10.9 ± 10.6 mmHg (p<0.01) on catheterization. Following first surgical intervention, residual ASD was associated with decreased annular growth of AV (p=0.042) and MV (p=0.01), smaller increase in LVEDD (p=0.001) and LVESD (p=0.018). MVpap was associated with smaller MV (p<0.001) and less MV annular growth by latest follow-up (p=0.001). Twenty-year OHT-free survival was 87%. By multivariate analysis, PH was associated with death/OHT (OR 6.8, 1.7-27.8). Survival in pts without residual ASD was 88% vs 77% with an ASD (p=0.017). Conclusions: SC pts with residual ASD have a higher rate of interventions. Left heart growth is optimized with ASD closure, while MVpap is associated with decreased growth. Pts who develop PH and have residual ASDs are at higher risk of mortality.