The pectus care guidelines: best practice consensus guidelines from the joint specialist societies SCTS/MF/CWIG/BOA/BAPS for the treatment of patients with pectus abnormalities.

Pectus defects are a group of congenital conditions found in approximately 1 in 250 people, where the sternum is depressed back towards the spine (excavatum), protrudes forwards (carinatum) or more rarely is a mixture of both (arcuatum or mixed defects). For the majority of patients, it is well tolerated, but some patients are affected psychologically, physiologically or both. The deformity becomes apparent at a young age due to the growth of the ribs and the cartilage that links them to the sternum. The majority of defects are mild and are well tolerated, i.e. they do not affect activity and do not cause psychological harm. However, some young people develop lower self-esteem and depression, causing them to withdraw from activities (such as swimming, dancing) and from interactions that might 'expose' them (such as sleepovers, dating, going to the beach and wearing fashionable clothes). This psychological harm occurs at a crucial time during their physical and social development. A small number of patients have more extreme depression of their sternum that impedes their physiological reserve, which can occur when engaging in strenuous exercise (such as running) but can also limit moderate activity such as walking and climbing stairs. The effects can be so extreme that symptoms occur at rest or cause life-threatening compression of the major blood vessels and organs. The group of patients with physiological impairment usually also suffer from low self-esteem and depression. This paper summarizes the current evidence for the different treatment strategies for this condition, including supportive care, psychological support and non-surgical techniques including bracing and vacuum bell therapy. We also consider surgical techniques including the Ravitch procedure, the Nuss procedure (minimally invasive repair of pectus excavatum), pectus implants and other rare procedures such as Pectus Up. For the majority of patients, supportive care is sufficient, but for a minority, a combination of the other techniques may be considered. This paper also outlines best practice guidance for the delivery of such therapies, including standardized assessment, consent to treatment, audit, quality assurance and long-term support. All the interventions have risks and benefits that the patient, parents and clinicians need to carefully consider and discuss when deciding on the most appropriate course. We hope this evidence review of 'Best Practice for Pectus' will make a significant contribution to those considerations and help all involved, from patients to national policy makers, to deliver the best possible care.

Comprehensive MRI assessment of the cardiovascular responses to food ingestion in Fontan physiology.

In univentricular (Fontan) physiology, peripheral and splanchnic vascular tone may be raised to counteract reduced cardiac output (CO) and elevated central venous pressure and thus maintain vital organ perfusion. This could negatively affect the normal cardiovascular response to food ingestion, where mesenteric vasodilation and a concurrent rise in CO are central. We sought to elucidate this using rapid cardiovascular MRI. Thirty fasting subjects (50% controls, 40% women and 60% men) ingested a standardized meal. Responses over ~50 min in mean arterial pressure (MAP), CO, and blood flow in all major aortic branches were measured, and regional vascular impedance (Z0) was calculated. Differences from baseline and between groups were assessed by repeated-measures mixed models. Compared with the control group, the Fontan patient group had greater fasting Z0 of the legs and kidneys, resulting in greater systemic Z0 and similar MAP. They further had similar blood flow to the digestive organs at baseline, despite larger variation in mesenteric resistance. Postprandially, blood flow to the legs decreased in the control group but not in the Fontan patient group. Increases in CO and superior mesenteric blood flow were similar in both groups, but the celiac response was blunted in the Fontan patient group. No significant differences in MAP responses were observed. In conclusion, alterations in vascular tone to counteract adverse hemodynamics and raised hepatic afterload may blunt vasoreactivity in the legs and the celiac axis in Fontan physiology. Further study is needed to determine whether blunted celiac or mesenteric vasoreactivity is linked to deteriorating hemodynamics and poor prognosis in Fontan patients.NEW & NOTEWORTHY Novel data on cardiovascular physiology in response to a meal in Fontan patients are presented. Using a previously validated dynamic MRI protocol, we demonstrated that the usual increase in cardiac output and the dilation of the superior mesenteric artery are preserved in clinically well Fontan patients. In contrast, vasoconstriction of the legs may have prevented redistribution of blood flow from this region in response to the meal. This may also affect responses to other types of stress. Celiac vasodilation was also absent in Fontan patients. This may be due to abnormal hepatic circulation. The proposed protocol may be used to study Fontan complications secondary to abnormal regional hemodynamics.

The "Cooing Pigeon": TAVI for Acute Aortic Regurgitation Secondary to Homograft Degeneration.

We present a case of acute aortic homograft regurgitation manifesting as a new-onset "cooing" murmur in a patient with congenital heart disease who did not have signs of clinical decompensation or evidence of infective endocarditis. He underwent successful transcatheter aortic valve implantation following a diagnosis of sterile acute valvular degeneration. (Level of Difficulty: Intermediate.).

Cardiovascular imaging in Turner syndrome: state-of-the-art practice across the lifespan.

Cardiovascular imaging is essential to providing excellent clinical care for girls and women with Turner syndrome (TS). Congenital and acquired cardiovascular diseases are leading causes of the lifelong increased risk of premature death in TS. Non-invasive cardiovascular imaging is crucial for timely diagnosis and treatment planning, and a systematic and targeted imaging approach should combine echocardiography, cardiovascular magnetic resonance and, in select cases, cardiac CT. In recent decades, evidence has mounted for the need to perform cardiovascular imaging in all females with TS irrespective of karyotype and phenotype. This is due to the high incidence of outcome-determining lesions that often remain subclinical and occur in patterns specific to TS. This review provides an overview of state-of-the-art cardiovascular imaging practice in TS, by means of a review of the most recent literature, in the context of a recent consensus statement that has highlighted the role of cardiovascular diseases in these females.

Idiopathic pulmonary arterial hypertension with coexisting CHD.

Sinus venosus atrial septal defect can result in an increase in pulmonary blood flow and vascular resistance, leading to pulmonary hypertension. Rarely, the degree of pulmonary hypertension is out of proportion to the degree of intra-cardiac shunting. This case outlines the differences between pulmonary hypertension secondary to CHD and idiopathic pulmonary hypertension, and illustrates the investigation and management strategy used in a patient with features of both.

Isolated aortic root dilation in homocystinuria.

BACKGROUND: Vascular complications in homocystinuria have been known for many years, but there have been no reports to date on involvement of the ascending aorta. METHODS: We conducted a cross-sectional study of patients with homocystinuria, known to a single metabolic centre, and evaluated in 2016 with a transthoracic echocardiogram. Aortic root dilation was defined as Z-score ≥ 2.0 SD, and graded mild (Z-score 2.0-3.0), moderate (Z-score 3.01-4.0) and severe (Z-score > 4.0). RESULTS: The study population included 34 patients, median age of 44.3 years (IQR 33.3-52.2), 50% males, 69% diagnosed aged <18 years and 29% pyridoxine-responsive. Eight (24%) had a history of hypertension. Seven patients (21%) were found to have a dilation of the aortic root, mild in two cases (6%), moderate in four (12%) and severe in one (3%). None had dilation of the ascending aorta. Significant aortic regurgitation, secondary to moderate aortic root dilation, was documented in two patients. A single patient had significant mitral regurgitation due to prolapse of both valve leaflets, as well as mild aortic root dilation. Comparing patients with a dilation of the aortic root to those without, there were no significant clinical, laboratory or echocardiographic differences, with the only exception being that the diameter of the ascending aorta was larger in the group with a dilated aortic root, albeit within normal limits. CONCLUSIONS: A subset of patients with homocystinuria have isolated dilation of the aortic root similar to that observed in Marfan syndrome.

Abnormal Wave Reflections and Left Ventricular Hypertrophy Late After Coarctation of the Aorta Repair.

Patients with repaired coarctation of the aorta are thought to have increased afterload due to abnormalities in vessel structure and function. We have developed a novel cardiovascular magnetic resonance protocol that allows assessment of central hemodynamics, including central aortic systolic blood pressure, resistance, total arterial compliance, pulse wave velocity, and wave reflections. The main study aims were to (1) characterize group differences in central aortic systolic blood pressure and peripheral systolic blood pressure, (2) comprehensively evaluate afterload (including wave reflections) in the 2 groups, and (3) identify possible biomarkers among covariates associated with elevated left ventricular mass (LVM). Fifty adult patients with repaired coarctation and 25 age- and sex-matched controls were recruited. Ascending aorta area and flow waveforms were obtained using a high temporal-resolution spiral phase-contrast cardiovascular magnetic resonance flow sequence. These data were used to derive central hemodynamics and to perform wave intensity analysis noninvasively. Covariates associated with LVM were assessed using multivariable linear regression analysis. There were no significant group differences (P≥0.1) in brachial systolic, mean, or diastolic BP. However central aortic systolic blood pressure was significantly higher in patients compared with controls (113 versus 107 mm Hg, P=0.002). Patients had reduced total arterial compliance, increased pulse wave velocity, and larger backward compression waves compared with controls. LVM index was significantly higher in patients than controls (72 versus 59 g/m2, P<0.0005). The magnitude of the backward compression waves was independently associated with variation in LVM (P=0.01). Using a novel, noninvasive hemodynamic assessment, we have shown abnormal conduit vessel function after coarctation of the aorta repair, including abnormal wave reflections that are associated with elevated LVM.

Radiofrequency ablation of atrial tachyarrhythmias in adults with tetralogy of Fallot - predictors of success and outcome.

BACKGROUND: Adults with tetralogy of Fallot experience atrial tachyarrhythmias; however, there are a few data on the outcomes of radiofrequency ablation. We examined the characteristics, outcome, and predictors of recurrence of atrial tachyarrhythmias after radiofrequency ablation in tetralogy of Fallot patients. Methods/results Retrospective data were collected from 2004 to 2013. In total, 56 ablations were performed on 37 patients. We identified two matched controls per case: patients with tetralogy of Fallot but no radiofrequency ablation and not known to have atrial tachyarrhythmias. Acute success was 98%. Left atrial arrhythmias increased in frequency over time. The mean follow-up was 41 months; 78% were arrhythmia-free. Number of cardiac surgeries, age, and presence of atrial fibrillation were predictors of recurrence. Lone cavo-tricuspid isthmus-dependent flutter reduced the likelihood of atrial fibrillation. Right and left atria in patients with tetralogy of Fallot were larger in ablated cases than controls. NYHA class was worse in cases and improved after ablation; baseline status predicted death. Of matched non-ablated controls, a number of them had atrial fibrillation. These patients were excluded from the case-control study but analysed separately. Most of them had died during follow-up, whereas of the matched ablated cases all were alive and the majority in sinus rhythm. CONCLUSION: Patients with tetralogy of Fallot and atrial tachyarrhythmias have more dilated atria than those without atrial tachyarrhythmias. Radiofrequency ablation improves functional status. Left atrial ablation is more commonly required with repeat procedures. There is a high prevalence of atrial tachyarrhythmias, particularly atrial fibrillation, in patients with tetralogy of Fallot; early radiofrequency ablation may have a protective effect against this.

Magnetic Resonance-Augmented Cardiopulmonary Exercise Testing: Comprehensively Assessing Exercise Intolerance in Children With Cardiovascular Disease.

BACKGROUND: Conventional cardiopulmonary exercise testing can objectively measure exercise intolerance but cannot provide comprehensive evaluation of physiology. This requires additional assessment of cardiac output and arteriovenous oxygen content difference. We developed magnetic resonance (MR)-augmented cardiopulmonary exercise testing to achieve this goal and assessed children with right heart disease. METHODS AND RESULTS: Healthy controls (n=10) and children with pulmonary arterial hypertension (PAH; n=10) and repaired tetralogy of Fallot (n=10) underwent MR-augmented cardiopulmonary exercise testing. All exercises were performed on an MR-compatible ergometer, and oxygen uptake was continuously acquired using a modified metabolic cart. Simultaneous cardiac output was measured using a real-time MR flow sequence and combined with oxygen uptake to calculate arteriovenous oxygen content difference. Peak oxygen uptake was significantly lower in the PAH group (12.6±1.31 mL/kg per minute; P=0.01) and trended toward lower in the tetralogy of Fallot group (13.5±1.29 mL/kg per minute; P=0.06) compared with controls (16.7±1.37 mL/kg per minute). Although tetralogy of Fallot patients had the largest increase in cardiac output, they had lower resting (3±1.2 L/min per m2) and peak (5.3±1.2 L/min per m2) values compared with controls (resting 4.3±1.2 L/min per m2 and peak 6.6±1.2 L/min per m2) and PAH patients (resting 4.5±1.1 L/min per m2 and peak 5.9±1.1 L/min per m2). Both the PAH and tetralogy of Fallot patients had blunted exercise-induced increases in arteriovenous oxygen content difference. However, only the PAH patients had significantly reduced peak values (6.9±1.3 mlO2/100 mL) compared with controls (8.4±1.4 mlO2/100 mL; P=0.005). CONCLUSIONS: MR-augmented cardiopulmonary exercise testing is feasible in both healthy children and children with cardiac disease. Using this novel technique, we have demonstrated abnormal exercise patterns in oxygen uptake, cardiac output, and arteriovenous oxygen content difference.

Free breathing contrast-enhanced time-resolved magnetic resonance angiography in pediatric and adult congenital heart disease.

BACKGROUND: Contrast enhanced magnetic resonance angiography (MRA) is generally performed during a long breath-hold (BH), limiting its utility in infants and small children. This study proposes a free-breathing (FB) time resolved MRA (TRA) technique for use in pediatric and adult congenital heart disease (CHD). METHODS: A TRA sequence was developed by combining spiral trajectories with sensitivity encoding (SENSE, x4 kx-ky and x2 kz) and partial Fourier (75% in kz). As no temporal data sharing is used, an independent 3D data set was acquired every ~1.3s, with acceptable spatial resolution (~2.3x2.3x2.3 mm). The technique was tested during FB over 50 consecutive volumes. Conventional BH-MRA and FB-TRA data was acquired in 45 adults and children with CHD. We calculated quantitative image quality for both sequences. Diagnostic accuracy was assessed in all patients from both sequences. Additionally, vessel measurements were made at the sinotubular junction (N = 43), proximal descending aorta (N = 43), descending aorta at the level of the diaphragm (N = 43), main pulmonary artery (N = 35), left pulmonary artery (N = 35) and the right pulmonary artery (N = 35). Intra and inter observer variability was assessed in a subset of 10 patients. RESULTS: BH-MRA had significantly higher homogeneity in non-contrast enhancing tissue (coefficient of variance, P <0.0001), signal-to-noise ratio (P <0.0001), contrast-to-noise ratio (P <0.0001) and relative contrast (P = 0.02) compared to the FB-TRA images. However, homogeneity in the vessels was similar in both techniques (P = 0.52) and edge sharpness was significantly (P <0.0001) higher in FB-TRA compared to BH-MRA. BH-MRA provided overall diagnostic accuracy of 82%, and FB-TRA of 87%, with no statistical difference between the two sequences (P = 0.77). Vessel diameter measurements showed excellent agreement between the two techniques (r = 0.98, P <0.05), with no bias (0.0 mm, P = 0.71), and clinically acceptable limits of agreement (-2.7 to +2.8 mm). Inter and intra observer reproducibility showed good agreement of vessel diameters (r>0.988, P<0.0001), with negligible biases (between -0.2 and +0.1mm) and small limits of agreement (between -2.4 and +2.5mm). CONCLUSIONS: We have described a FB-TRA technique that is shown to enable accurate diagnosis and vessel measures compared to conventional BH-MRA. This simplifies the MRA technique and will enable angiography to be performed in children and adults whom find breath-holding difficult.

MR augmented cardiopulmonary exercise testing-a novel approach to assessing cardiovascular function.

The purposes of this study were: (1) to evaluate feasibility and acceptability of MRI augmented cardiopulmonary exercise testing (MR-CPET) in healthy adults and (2) to test whether peak values obtained at conventional and MR-CPET correlate and to demonstrate variation in peak oxygen consumption (VO2) relates to both peak cardiac output (CO) and peak oxygen extraction (ΔcO2). Seventeen healthy adults underwent CPET and MR-CPET using an MR compatible ergometer and CPET system customised for MR use. Continuous aortic flow measurement used a validated UNFOLD-SENSE spiral phase contrast magnetic resonance (PCMR) sequence.Fifteen of 17 volunteers completed exercise; exclusions were due to claustrophobia and inability to effectively master exercise technique. Measures of acceptability were lower but still satisfactory for MR-CPET.There were strong correlations between conventional and MR-CPET for peak VO2 (r = 0.94, p < 0.001); VCO2 (r = 0.87, p < 0.001) and VE (r = 0.88, p < 0.001).Multiple linear regression analysis demonstrated peak CO and ΔcO2 were independent predictors of peak VO2 measured during MR-CPET (ß = 0.73 and 0.38 p < 0.0001) and conventional CPET (ß = 0.78, 0.28 p < 0.0001).MR-CPET is feasible, acceptable and demonstrates physiology not apparent with conventional CPET. MR-CPET allows differentiation of the contributions of CO and ΔcO2 to variation in peak VO2. We believe that this will be useful in understanding the origin of reduced exercise capacity in cardiac disease.

Real-time magnetic resonance assessment of septal curvature accurately tracks acute hemodynamic changes in pediatric pulmonary hypertension.

BACKGROUND: This study assesses the relationship between septal curvature and mean pulmonary artery pressure and indexed pulmonary vascular resistance in children with pulmonary hypertension. We hypothesized that septal curvature could be used to estimate right ventricular afterload and track acute changes in pulmonary hemodynamics. METHODS AND RESULTS: Fifty patients with a median age of 6.7 years (range, 0.45-16.5 years) underwent combined cardiac catheterization and cardiovascular magnetic resonance. The majority had idiopathic pulmonary arterial hypertension (n=30); the remaining patients had pulmonary hypertension associated with repaired congenital heart disease (n=17) or lung disease (n=3). Mean pulmonary artery pressure and pulmonary vascular resistance were acquired at baseline and during vasodilation. Septal curvature was measured using real-time cardiovascular magnetic resonance. There was a strong correlation between mean pulmonary artery pressure and SCmin at baseline and during vasodilator testing (r=-0.81 and -0.85, respectively; P<0.01). A strong linear relationship also existed between pulmonary vascular resistance and minimum septal curvature indexed to cardiac output both at baseline and during vasodilator testing (r=-0.88 and -0.87, respectively; P<0.01). Change in septal curvature metrics moderately correlated with absolute change in mean pulmonary artery pressure and pulmonary vascular resistance, respectively (r=0.58 and -0.74; P<0.01). Septal curvature metrics were able to identify vasoresponders with a sensitivity of 83% (95% confidence interval, 0.36-0.99) and a specificity of 91% (95% confidence interval, 0.77-0.97), using the Sitbon criteria. Idiopathic pulmonary arterial hypertension subgroup analysis revealed 3 responders with ΔSCmin values of 0.523, 0.551, and 0.568. If the middle value of 0.551 is taken as a cutoff, the approximate sensitivity would be 67% and the specificity would be 93%. CONCLUSIONS: Septal curvature metrics are able to estimate right ventricular afterload and track acute changes in pulmonary hemodynamics during vasodilator testing. This suggests that septal curvature could be used for continuing assessment of load in pulmonary hypertension.

Clinical issues and outcomes in adults following repair of tetralogy of fallot.

OPINION STATEMENT: Advances in diagnosis, perioperative and surgical management of neonates born with Tetralogy of Fallot (TOF) have meant that affected individuals can now expect to survive to adulthood. However, this success is counterbalanced by the development of late morbidity in adulthood affecting survival and functional capacity. This review article addresses some of the major sequelae of TOF repair and discusses the contemporary approaches to reduce morbidity and mortality in this population.

Prognostic significance of cardiac magnetic resonance imaging in children with pulmonary hypertension.

BACKGROUND: There are very few validated prognostic markers in pediatric pulmonary hypertension. Cardiac MRI is a useful, noninvasive method for determining prognosis in adults. The present study is the first to assess its prognostic value in children. METHODS AND RESULTS: A total of 100 children with pulmonary hypertension (median, 10.4 years; range, 0.5-17.6 years) were evaluated (idiopathic, n=60; repaired congenital heart disease, n=22; miscellaneous, n=18). In all patients, ventricular volumes and great vessel flow were measured. Volumetric data were obtained using retrospectively gated cine imaging (n=37) or real-time imaging (n=63), depending on the patient's ability to hold his or her breath. During a median follow-up of 1.9 years, 11 patients died and 3 received lung transplantation. Of the cardiac MR parameters measured, right ventricular ejection fraction and left ventricular stroke volume index were most strongly predictive of survival on univariate analysis (2.6- and 2.5-fold increase in mortality for every 1-SD decrease, respectively; P<0.05). These results were reflected in good separation of tertile-based Kaplan-Meier survival curves for these variables. CONCLUSIONS: Cardiac MR measures correlate with clinical status and prognosis in children with pulmonary hypertension. Cardiac MR is feasible and may be useful in clinical decision making in pediatric pulmonary hypertension.

Real-time flow with fast GPU reconstruction for continuous assessment of cardiac output.

PURPOSE: To demonstrate the feasibility of real-time phase contrast magnetic resonance (PCMR) assessment of continuous cardiac output with a heterogeneous (CPU/GPU) system for online image reconstruction. MATERIALS AND METHODS: Twenty healthy volunteers underwent aortic flow examination during exercise using a real-time spiral PCMR sequence. Acquired data were reconstructed in online fashion using an iterative sensitivity encoding (SENSE) algorithm implemented on an external computer equipped with a GPU card. Importantly, data were sent back to the scanner console for viewing. A multithreaded CPU implementation of the real-time PCMR reconstruction was used as a reference point for the online GPU reconstruction assessment and validation. A semiautomated segmentation and registration algorithm was applied for flow data analysis. RESULTS: There was good agreement between the GPU and CPU reconstruction (-0.4 ± 0.8 mL). There was a significant speed-up compared to the CPU reconstruction (15×). This translated into the flow data being available on the scanner console ≈9 seconds after acquisition finished. This compares to an estimated time using the CPU implementation of 83 minutes. CONCLUSION: Our heterogeneous image reconstruction system provides a base for translation of complex MRI algorithms into clinical workflow. We demonstrated its feasibility using real-time PCMR assessment of continuous cardiac output as an example.

High-resolution slice-selective Fourier velocity encoding in congenital heart disease using spiral SENSE with velocity unwrap.

Quantification of peak velocity is important in the assessment of stenotic flow jets in patients with congenital heart disease. Phase-contrast magnetic resonance underestimates peak velocities. Hence, clinically Doppler ultrasound is used as the reference standard for assessing stenoses. It is possible to accurately measure peak velocity in MR using Fourier velocity encoding (FVE). In this study, a fast, high-resolution slice-selective FVE sequence was developed with the use of spiral trajectories, parallel imaging, and partial Fourier in the velocity dimension and a novel velocity-unwrap technique. The resulting sequence was acquired within a short breath-hold (more than 15 heartbeats) making this FVE technique clinically achievable. Peak velocities were compared from Doppler ultrasound, phase-contrast magnetic resonance, and FVE. Experiments were carried out in vitro and in vivo in 25 patients with congenital heart disease with stenoses. It was shown that in vitro and in vivo phase-contrast magnetic resonance tended to underestimate peak velocity when compared with Doppler ultrasound, whereas FVE agreed well with Doppler ultrasound.