Subaortic Membranes in Patients With Hereditary Hemorrhagic Telangiectasia and Liver Vascular Malformations.

Background Patients with hereditary hemorrhagic telangiectasia have liver vascular malformations that can cause high-output cardiac failure (HOCF). Known sequelae include pulmonary hypertension, tricuspid regurgitation, and atrial fibrillation. Methods and Results The objectives of this study were to describe the clinical, echocardiographic, and hemodynamic characteristics and prognosis of hereditary hemorrhagic telangiectasia patients with HOCF who were found to have a subaortic membrane (SAoM). A retrospective observational analysis comparing patients with and without SAoM was performed. Among a cohort of patients with HOCF, 9 were found to have a SAoM in the left ventricular outflow tract by echocardiography (all female, mean age 64.8±4.0 years). The SAoM was discrete and located in the left ventricular outflow tract 1.1±0.1 cm below the aortic annular plane. It caused turbulent flow, mild obstruction (peak velocity 2.8±0.2 m/s, peak gradient 32±4 mm Hg), and no more than mild aortic insufficiency. Patients with SAoM (n=9) had higher cardiac output (12.1±1.3 versus 9.3±0.7 L/min, P=0.04) and mean pulmonary artery pressures (36±3 versus 28±2 mm Hg, P=0.03) compared with those without SAoM (n=19) during right heart catheterization. Genetic analysis revealed activin receptor-like kinase 1 mutations in each of the 8 patients with SAoM who had available test results. The presence of a SAoM was associated with a trend towards higher 5-year mortality during follow-up. Conclusions SAoM with mild obstruction occurs in patients with hereditary hemorrhagic telangiectasia and HOCF. SAoM was associated with features of more advanced HOCF and poor outcomes.

3-Year Outcomes of the Edwards SAPIEN Transcatheter Heart Valve for Conduit Failure in the Pulmonary Position From the COMPASSION Multicenter Clinical Trial.

OBJECTIVES: This study provides the 3-year follow-up results of the COMPASSION (Congenital Multicenter Trial of Pulmonic Valve Regurgitation Studying the SAPIEN Transcatheter Heart Valve) trial. Patients with moderate to severe pulmonary regurgitation and/or right ventricular outflow tract conduit obstruction were implanted with the SAPIEN transcatheter heart valve (THV). BACKGROUND: Early safety and efficacy of the Edwards SAPIEN THV in the pulmonary position have been established through a multicenter clinical trial. METHODS: Eligible patients were included if body weight was >35 kg and in situ conduit diameter was ≥16 and ≤24 mm. Adverse events were adjudicated by an independent clinical events committee. Three-year clinical and echocardiographic outcomes were evaluated in these patients. RESULTS: Fifty-seven of the 63 eligible patients were accounted for at the 3-year follow-up visit from a total of 69 implantations in 81 enrolled patients. THV implantation was indicated for pulmonary stenosis (7.6%), regurgitation (12.7%), or both (79.7%). Twenty-two patients (27.8%) underwent implantation of 26-mm valves, and 47 patients received 23-mm valves. Functional improvement in New York Heart Association functional class was observed in 93.5% of patients. Mean peak conduit gradient decreased from 37.5 ± 25.4 to 17.8 ± 12.4 mm Hg (p < 0.001), and mean right ventricular systolic pressure decreased from 59.6 ± 17.7 to 42.9 ± 13.4 mm Hg (p < 0.001). Pulmonary regurgitation was mild or less in 91.1% of patients. Freedom from all-cause mortality at 3 years was 98.4%. Freedom from reintervention was 93.7% and from endocarditis was 97.1% at 3 years. There were no observed stent fractures. CONCLUSIONS: Transcatheter pulmonary valve replacement using the Edwards SAPIEN THV demonstrates excellent valve function and clinical outcomes at 3-year follow-up.

Physical activity barriers, preferences, and beliefs in childhood cancer patients.

PURPOSE: Childhood cancer patients report low physical activity levels despite the risk for long-term complications that may benefit from exercise. Research is lacking regarding exercise barriers, preferences, and beliefs among patients (1) on- and off-therapy and (2) across the age spectrum. METHODS: Cross-sectional study in the Yale Pediatric Hematology-Oncology Clinic (October 2013-October 2014). Participants were ≥ 4 years old, > 1 month after cancer diagnosis at < 20 years, not acutely ill, expected to live > 6 months, and received chemotherapy and/or radiation. Participants (or parents if < 13 years) completed a survey. RESULTS: The 162 patients (99% participated) were 34% children (4.0-12.9 years), 31% adolescents (13.0-17.9 years), and 35% adults (≥ 18 years). Most had leukemia/lymphoma (66%); 32% were on-therapy. On-therapy patients were more likely than off-therapy patients (73 vs. 48%; p = 0.003) to report ≥ 1 barrier related to physical complaints, such as "just too tired" (46 vs. 28%; p = 0.021) or "afraid" of injury (22 vs. 9%; p = 0.027). The majority preferred walking (73%), exercising at home (91%), exercising in the afternoon (79%), and a maximum travel time of 10-20 min (54%); preferences did not vary significantly by therapy status or age. Most respondents (94%) recognized the benefits of exercise after cancer, but 50% of on- vs. 12% of off-therapy patients believed "their cancer diagnosis made it unsafe to exercise regularly" (p < 0.001). CONCLUSIONS: Physical activity barriers pertaining to physical complaints and safety concerns were more pronounced in on-therapy childhood cancer patients but persisted off-therapy. Preferences and beliefs were relatively consistent. Our data can inform interventions in different patient subgroups.

A home-based physical activity intervention using activity trackers in survivors of childhood cancer: A pilot study.

BACKGROUND: Over 70% of childhood cancer survivors develop late complications from therapy, many of which can be mitigated by physical activity. Survivors engage in exercise at similar or lower rates than their sedentary healthy peers. We piloted a novel home-based exercise intervention with a motivational activity tracker. We evaluated (i) feasibility, (ii) impact on activity levels and physical fitness, and (iii) barriers, preferences, and beliefs regarding physical activity. METHODS: Childhood cancer survivors currently 15 years or older and not meeting the Centers for Disease Control and Prevention physical activity guidelines were enrolled and instructed to wear the Fitbit One, a 4.8 cm × 1.8 cm motivational activity tracker, daily for 6 months. Baseline and follow-up evaluations included self-report surveys, an Actigraph accelerometer for 7 days, and a VO2 maximum test by cardiac stress test. RESULTS: Nineteen participants were enrolled (13.4% participation rate) with a mean age of 24.3 ± 5.8 years (range 15-35). Four participants withdrew with a 79% retention rate. Participants wore the Fitbit an average of 19.0 ± 4.7 days per month during months 1-3 and 15.0 ± 7.9 days per month during months 4-6. Total weekly moderate to vigorous physical activity increased from 265.6 ± 117.0 to 301.4 ± 135.4 min and VO2 maximum increased from 25.7 ± 7.7 to 27.2 ± 7.4 ml/kg/min. These changes were not statistically significant (P = 0.47 and 0.30, respectively). Survey responses indicated no change in barriers, preferences, and beliefs regarding physical activity. CONCLUSIONS: This pilot study of a motivational activity tracker demonstrated feasibility as measured by participant retention, receptivity, and belief of utility. Future studies with a large sample size are needed to demonstrate the efficacy and sustainability of this intervention.

Vitamin D Status After Cardiopulmonary Bypass in Children With Congenital Heart Disease.

Deficiency in 25-hydroxyvitamin D (25OHD) is associated with increased morbidity and mortality in the critically ill. Children who underwent surgery for congenital heart disease under cardiopulmonary bypass (CPB) are typically deficient in 25OHD. It is unclear whether this deficiency is due to CPB. We hypothesized that CPB reduces the levels of 25OHD in children with congenital heart disease. We conducted a prospective observational study on children aged 2 months to 17 years who underwent CPB. Serum was collected at 3 time points: immediately before, immediately after surgery, and 24 hours after surgery. 25-Hydroxyvitamin D, 1,25-dihydroxyvitamin D, 1,25(OH)2D, vitamin D binding protein, and albumin levels were measured. Levels were compared using repeated measures analysis of variance. We enrolled 20 patients, 40% were deficient in 25OHD with levels <20 ng/mL prior to surgery. Mean (±standard deviation) of 25OHD at the 3 time points was 21.3 ± 8 ng/mL, 19 ± 5.8 ng/mL, and 19.5 ± 6.6 ng/mL, respectively ( P = .02). The decrease in 25OHD was observed primarily in children with sufficient levels of 25OHD, with mean levels at the 3 time points: 26.8 ± 4.2 ng/mL, 21.5 ± 5.7 ng/mL, and 23.0 ± 4.9 ng/mL, respectively ( P < .001). Calculated means of free fraction of 25OHD at the 3 time points were 6.2 ± 2.8 pg/mL, 5.8 ± 2.2 pg/mL, and 5.5 ± 2.4 pg/mL, respectively, ( P = .04). Mean levels of 1,25(OH)2D were 63.7 ± 34.9 ng/mL, 53.2 ± 30.6 ng/mL, and 67.7 ± 23.5 ng/mL ( P = .04). Vitamin D binding protein and albumin levels did not significantly change. Cardiopulmonary bypass decreases 25OHD by reducing the free fraction. Current investigations are geared to establish whether vitamin D deficiency is associated with outcomes and if treatment is appropriate.

Speckle-Tracking Echocardiographic Measures of Right Ventricular Function Correlate With Improvement in Exercise Function After Percutaneous Pulmonary Valve Implantation.

BACKGROUND: Speckle-tracking echocardiographic (STE) measures of right ventricular (RV) function appear to improve after transcatheter pulmonary valve implantation (TPVI). Measures of exercise function, such as ventilatory efficiency (the minute ventilation [VE]/carbon dioxide production [VCO2] slope), have been shown to be prognostic of mortality in patients who may require TPVI. The aim of this study was to evaluate the correlation between STE measures of RV function and changes in VE/VCO2 after TPVI. METHODS: Speckle-tracking echocardiography and cardiopulmonary exercise testing were performed at baseline and 6 months after TPVI in 24 patients from four centers. Conventional echocardiographic measures of RV function were also assessed. Echocardiographic and exercise stress test results were interpreted by single blinded observers at separate core laboratories. RESULTS: All patients demonstrated relief of pulmonary regurgitation and stenosis after TPVI. Improvements in RV longitudinal strain (-16.9 ± 3.5% vs -19.7 ± 4.3%, P < .01) and strain rate (-0.9 ± 0.4 vs. -1.2 ± 0.4 s(-1), P < .01) were noted. The VE/VCO2 slope improved (32.4 ± 5.7 vs 31.5 ± 8.8, P = .03). No other significant echocardiographic or exercise changes were found. On multivariate regression, the change in VE/VCO2 was independently associated with change in RV longitudinal early diastolic strain rate (P < .001) and tricuspid A velocity (P < .001). Preintervention RV longitudinal strain was found to be a predictor of change in VE/VCO2 after TPVI (r = -0.60, P < .001). CONCLUSIONS: STE measures of RV function appear to hold the potential for use as predictors of improved outcomes in patients requiring TPVI. Future studies should directly assess the prognostic significance of STE measures of RV function in this population.

Multi-drug-resistant hypertension caused by severe aortic coarctation presenting in late adulthood.

Aortic coarctation, a congenital narrowing in the region of the ligamentum arteriosium, is a rare etiology for multi-drug-resistant hypertension in adulthood; however, advances in stenting modalities may offer long-term improvements in morbidity and possibly even cure. We report on a female patient in her late 50s presenting with refractory hypertension and severely elevated renin levels, ultimately diagnosed with aortic coarctation and treated with percutaneous stent implantation, which resulted in successful blood pressure control with verapamil monotherapy. This case highlights the efficacy of endovascular stent implantation for the treatment of coarctation and the need for clinicians to consider this disease entity in the differential diagnosis of refractory hypertension even in late adulthood.

Coronary recanalization due to presumed thrombosis following surgical ligation of a large right coronary artery to right ventricle fistula.

We report angiographic findings in an infant with congestive heart failure due to a large right coronary artery to right ventricular fistula who underwent surgical ligation. Repeat catheterization 2 years later unexpectedly showed extensive thrombosis of the right coronary artery with multiple recanalized channels supplying the right coronary distribution. Review of the literature showed that this may not be an uncommon finding.

Novel catheter positioning technique for atretic pulmonary valve perforation.

Percutaneous pulmonary valve perforation in selected neonates with pulmonary valve atresia and intact ventricular septum has been well established as a therapeutic option. Pulmonary valve perforation is associated with significant risks including perforation of the right ventricle. Optimal catheter positioning is crucial to the success of the procedure. This report describes a novel technique for accurate positioning of a guiding catheter during perforation of an atretic pulmonary valve.

Exercise-induced stridor due to abnormal movement of the arytenoid area: videoendoscopic diagnosis and characterization of the "at risk" group.

We evaluated 4 patients who developed severe, symptomatic stridor during maximal cardiopulmonary exercise testing, all referred due to exercise-related dyspnea. All underwent resting, unsedated transnasal fiberoptic laryngoscopy and had normal findings. Four patients performed repeat maximal exercise testing with fiberoptic laryngoscopy, and they form the basis of this report. They had normal vocal cord motion during exercise, but developed abnormal anterior motion of the arytenoid and aryepiglottic folds only at peak exercise, leading to partial airway obstruction and severe stridor. This report details the workup and characterizes patients at risk for this unusual phenomenon.