Review Article
Dealing with Ebstein's anomaly
- Lianne M. Geerdink, Livia Kapusta
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- Published online by Cambridge University Press:
- 29 October 2013, pp. 191-200
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Ebstein's anomaly is a complex congenital disorder of the tricuspid valve. Presentation in neonatal life and (early) childhood is common. Disease severity and clinical features vary widely and require a patient-tailored treatment. In this review, we describe the natural history of children and adolescents with Ebstein's anomaly, including symptoms and signs presenting at diagnosis. Current classification strategies of Ebstein's anomaly are discussed. We report on diagnostic methods for establishing the severity of disease that might enhance decision on the timing of surgical intervention. Furthermore, we describe different surgical options for severely ill neonates and multiple surgical interventions after infancy. Only with ample knowledge and understanding of the above, this complex and diverse group of patients can be correctly treated in order to improve not only duration, but also quality of life.
Original Articles
Tissue Doppler, strain, and strain rate measurements assessed by two-dimensional speckle-tracking echocardiography in healthy newborns and infants
- Ozlem Elkiran, Cemsit Karakurt, Gulendam Kocak, Ahmet Karadag
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- 07 February 2013, pp. 201-211
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Objectives
To evaluate cardiac maturational and haemodynamic alteration in healthy newborns and infants and determine reference values in this period using tissue Doppler, strain, and strain rate echocardiography.
Material and MethodsThe study included 149 healthy subjects. Babies from 1 day to 3 months were selected from the well-baby nursery department, and infants were selected from paediatric clinics during routine visits for health maintenance. Subjects were allocated to four groups: preterm (36–37 weeks, n = 32), term (≥38 weeks, n = 32), 1 month of age (n = 47), and 3 months of age (n = 38). Standard echocardiographic evaluations, pulsed wave Doppler, tissue Doppler echocardiography, strain, and strain rate studies were applied by the same person using a MyLab50 echo machine. Longitudinal and circumferential systolic strain and strain rate measurements were assessed by two-dimensional speckle-tracking echocardiography in all subjects.
ResultsThe longitudinal systolic velocity, strain, and strain rate values derived from left ventricle apical four-, three-, and two-chamber images, and circumferential systolic velocity, strain, and strain rate values derived from left ventricle short-axis images decreased from the base to the apex in all subjects (p < 0.001).
ConclusionSignificant cardiac haemodynamic alterations occurred during the newborn and early infancy periods and were detected by tissue Doppler, strain, and strain rate echocardiography. Although two-dimensional speckle-tracking echocardiography is useful and can produce improved, reliable results in clinical practice, it has some limitations. Therefore, more studies on this issue are required.
Catheter interventions in the staged management of hypoplastic left heart syndrome
- Zdenka Reinhardt, Joseph De Giovanni, John Stickley, Vinay K. Bhole, Benjamin Anderson, Bari Murtuza, Chetan Mehta, Paul Miller, Rami Dhillon, Oliver Stumper
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- Published online by Cambridge University Press:
- 08 February 2013, pp. 212-219
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Aim
To analyse the current practice and contribution of catheter interventions in the staged management of patients with hypoplastic left heart syndrome.
MethodsThis study is a retrospective case note review of 527 patients undergoing staged Norwood/Fontan palliation at a single centre between 1993 and 2010. Indications and type of catheter interventions were reviewed over a median follow-up period of 7.5 years.
ResultsA staged Norwood/Fontan palliation for hypoplastic left heart syndrome was performed in 527 patients. The 30-day survival rate after individual stages was 76.5% at Stage I, 96.3% at Stage II, and 99.4% at Stage III. A total of 348 interventions were performed in 189 out of 527 patients. Freedom from catheter intervention in survivors was 58.2% before Stage II and 46.7% before Stage III. Kaplan–Meier freedom from intervention post Fontan completion was 55% at 10.8 years of follow-up. Post-stage I interventions were mostly directed to relieve aortic arch obstruction – 84 balloon angioplasties – and augment pulmonary blood flow – 15 right ventricle-to-pulmonary conduit interventions; post-Stage II interventions centred on augmenting size of the left pulmonary artery – 73 procedures and abolishing systemic venous collaterals – 32 procedures. After Stage III, the focus was on manipulating the size of the fenestration – 42 interventions – and the left pulmonary artery −31 procedures.
ConclusionInterventional cardiac catheterisation constitutes an integral part in the staged palliative management of patients with hypoplastic left heart syndrome. Over one-third (37%) of patients undergoing staged palliation required catheter intervention over the follow-up period.
Assessing the generalisability of the Pediatric Cardiac Quality of Life Inventory in the United Kingdom
- Jo Wray, Kate Brown, Rodney Franklin, Amy Cassedy, Bradley S. Marino
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- 26 February 2013, pp. 220-228
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Purpose
To demonstrate the generalisability of the Pediatric Cardiac Quality of Life Inventory in the United Kingdom.
MethodsChildren and adolescents with heart disease were recruited from three tertiary paediatric cardiac centres in the United Kingdom and completed the Pediatric Cardiac Quality of Life Inventory. Item response option variability, total and subscale scores, patterns of correlation, and internal consistency were compared between the three sites.
ResultsA total of 1537 participants – 768 children/adolescents and 769 parents – were evaluated from the three sites. Patterns of item response option variability were similar and acceptable for all samples – child, adolescent, parent of child, and parent of adolescent. Internal consistency was high (0.82–0.96) for all samples from each site, and item–subscale, subscale–subscale, subscale–total, and item–total correlations were moderate to excellent for each centre. Comparisons of patterns of subscale and total score correlations between the three sites revealed no significant differences.
ConclusionScores on the Pediatric Cardiac Quality of Life Inventory are generalisable in the United Kingdom, supporting the use of this measure for multi-centre studies of health-related quality of life of children and adolescents with heart disease.
Advantages of early replacement therapy for mucopolysaccharidosis type VI: echocardiographic follow-up of siblings
- Gabriela N. Leal, Ana C. de Paula, Samira S. Morhy, José L. Andrade, Chong A. Kim
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- 05 March 2013, pp. 229-235
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Mucopolysaccharidosis type VI (Marateaux–Lamy syndrome) is an autosomal recessive disorder caused by deficient activity of the enzyme N-acetylgalactosamine-4-sulphatase (arylsulphatase B). Cytoplasmic vacuoles full of dermatan sulphate are observed in endothelial cells, myocyte, and fibroblasts, compromising the function of cardiovascular structures and contributing significantly towards morbidity and mortality. The primary objective of this study was to assess the advantages of early replacement therapy with recombinant human arylsulphatase B through the echocardiographic follow-up of sisters who started treatment at quite different ages: one at 9 years and the other at 1 year and 7 months. The older sibling showed striking mitral and aortic valve compromise when she was only 2 years old and finally needed cardiac surgery at the age of 8, even before starting enzyme replacement. Differently, the younger one has developed only mild mitral and aortic lesions throughout the follow-up period of 3 years. The two siblings had left ventricle cardiomyopathy, but partial reverse remodelling was induced by enzyme replacement therapy in both cases. The younger sibling has never received any cardiovascular drugs, whereas the older one has been using β-blockers and diuretics in addition to enzyme therapy to cope with heart failure. Comparing the outcomes of these two sisters with a very aggressive phenotype of mucopolysaccharidosis type VI, the conclusion was that early onset of therapy may slow down the disease progression and prevent severe cardiac lesions to be established. Moreover, patients’ compliance is essential for the success of treatment, as sequential echocardiographic evaluation demonstrated worsening of some cardiac lesions whenever infusions were missed.
Diastolic dysfunction measured by tissue Doppler imaging in children with end-stage renal disease: a report of the RICH-Q study
- Nikki J. Schoenmaker, Irene M. Kuipers, Johanna H. van der Lee, Wilma F. Tromp, Maria van Dyck, Marc Gewillig, Nico A. Blom, Jaap W. Groothoff
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- 05 March 2013, pp. 236-244
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Introduction: Early detection of cardiovascular disease in children with end-stage renal disease is essential in order to prevent cardiovascular morbidity and mortality in early adulthood. Tissue Doppler imaging has shown to be a promising method to detect and quantify subtle abnormalities in diastolic function. We therefore compared assessment of diastolic function by conventional echocardiography and tissue Doppler imaging. Methods: We performed conventional echocardiography and tissue Doppler imaging in 38 children with end-stage renal disease and 76 healthy controls. We compared outcomes on parameters related to diastolic function (E/a ratio for conventional echocardiography and E/E′ ratio for tissue Doppler imaging) for both groups using multiple linear regression analysis. Diastolic dysfunction was defined as E/a ratio <1 or E/E′ ratio > 95th percentile for age. To assess the intra-observer reproducibility, the coefficient of variation was calculated. Results: Children with end-stage renal disease had on average a lower E/a ratio (p = 0.004) and a higher mitral and septal E/E′ ratio (both p < 0.001) compared with controls. In all, two children with end-stage renal disease (5%) had diastolic dysfunction according to the E/a ratio, 11 according to the mitral E/E′ ratio (29%), and 16 according to the septal E/E′ ratio (42%) compared with none of the controls (p = 0.109, p < 0.001, and p < 0.001, respectively). The coefficients of variation of the mitral (7%) and septal E/E′ ratio (4%) were smaller than the coefficient of variation of the E/a ratio (11%). Conclusions: Tissue Doppler imaging is a more sensitive and reliable method to detect diastolic dysfunction than conventional E/a ratio in children with end-stage renal disease.
Evaluation of left ventricular torsion in children with hypertrophic cardiomyopathy
- Christian Prinz, Lothar Faber, Dieter Horstkotte, Hermann Körperich, Axel Moysich, Nikolaus Haas, Deniz Kececioglu, Kai Thorsten Laser
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- 07 February 2013, pp. 245-252
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Aims
To evaluate the role of torsion in hypertrophic cardiomyopathy in children.
MethodsA total of 88 children with idiopathic hypertrophic cardiomyopathy (n = 24) and concentric hypertrophy (n = 20) were investigated with speckle-tracking echocardiography and compared with age- and gender-matched healthy controls (n = 44).
ResultsIn hypertrophic cardiomyopathy, we found increased torsion (2.8 ± 1.6 versus 1.9 ± 1.0°/cm [controls], p < 0.05) because of an increase in clockwise basal rotation (−8.7 ± 4.3° versus −4.9 ± 2.5° [controls], p < 0.001) and prolonged time to peak diastolic untwisting (3.7 ± 2.4% versus 1.7 ± 0.6% [controls] of cardiac cycle, p < 0.01), but no differences in peak untwisting velocities. Hypertrophic cardiomyopathy patients demonstrated a negative correlation between left ventricular muscle mass and torsion (r = −0.7, p < 0.001). In concentric hypertrophy, torsion was elevated because of increased apical rotation (15.1 ± 6.4° versus 10.5 ± 5.5° [controls], p < 0.05) without correlation with muscle mass. Peak untwisting velocities (− 202 ± 88 versus −145 ± 67°/s [controls], p < 0.05) were higher in concentric hypertrophy and time to peak diastolic untwisting was delayed (1.8 ± 0.8% versus 1.2 ± 0.6% [controls], p < 0.05).
ConclusionsIn contrast to an increased counterclockwise apical rotation in concentric hypertrophy, hypertrophic cardiomyopathy is characterised by predominantly enhanced systolic basal clockwise rotation. Diastolic untwisting is delayed in both groups. Torsion may be an interesting marker to guide patients with hypertrophic cardiomyopathy.
Identified mortality risk factors associated with presentation, initial hospitalisation, and interstage period for the Norwood operation in a multi-centre registry: a report from the National Pediatric Cardiology-Quality Improvement Collaborative
- Russell R. Cross, Ashraf S. Harahsheh, Robert McCarter, Gerard R. Martin, for the National Pediatric Cardiology Quality Improvement Collaborative (NPC-QIC)
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- Published online by Cambridge University Press:
- 07 February 2013, pp. 253-262
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Introduction
Despite improvements in care following Stage 1 palliation, interstage mortality remains substantial. The National Pediatric Cardiology-Quality Improvement Collaborative captures clinical process and outcome data on infants discharged into the interstage period after Stage 1. We sought to identify risk factors for interstage mortality using these data.
Materials and methodsPatients who reached Stage 2 palliation or died in the interstage were included. The analysis was considered exploratory and hypothesis generating. Kaplan–Meier survival analysis was used to screen for univariate predictors, and Cox multiple regression modelling was used to identify potential independent risk factors.
ResultsData on 247 patients who met the criteria between June, 2008 and June, 2011 were collected from 33 surgical centres. There were 23 interstage mortalities (9%). The identified independent risk factors of interstage mortality with associated relative risk were: hypoplastic left heart syndrome with aortic stenosis and mitral atresia (relative risk = 13), anti-seizure medications at discharge (relative risk = 12.5), earlier gestational age (relative risk = 11.1), nasogastric or nasojejunal feeding (relative risk = 5.5), unscheduled readmissions (relative risk = 5.3), hypoplastic left heart syndrome with aortic atresia and mitral stenosis (relative risk = 5.2), fewer clinic visits with primary cardiologist identified (relative risk = 3.1), and fewer post-operative vasoactive medications (relative risk = 2.2).
ConclusionInterstage mortality remains substantial, and there are multiple potential risk factors. Future efforts should focus on further exploration of each risk factor, with potential integration of the factors into surveillance schemes and clinical practice strategies.
Heart rate variability in β-thalassaemia major with or without cardiac siderosis
- A. Alp, O. Ozdogan, C.C. Guloglu, M. Turker, B. Atabay
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- 12 February 2013, pp. 263-267
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Objectives
Iron cardiomyopathy remains the major cause of death in β-thalassaemia major. Excessive iron loading could lead to cardiac dysfunction and arrhythmias. Reduced heart rate variability is associated with a higher risk of arrhythmia and sudden death after myocardial infarction and heart failure. Previous data have reported on reduced heart rate variability in patients with marked cardiac iron accumulation. In this study, we compared heart rate variability among β-thalassaemia major (TM) patients with or without cardiac siderosis.
MethodsOut of 70 β-thalassaemia major patients with preserved ejection fractions, 38 patients with cardiac T2* magnetic resonance imaging assessment were included in our study. Time domain heart rate variability parameters were analysed from 24-hour recorded electrocardiograms and were compared with the control group.
ResultsThe mean T2* magnetic resonance imaging value was 22.9 ± 13.3 (4.7–47.5). In 21 patients with β-thalassaemia major, the T2* magnetic resonance imaging values were greater than 20 ms and these patients were considered to be in the early stage of the disease. When we compare these patients with control subjects, the standard deviation of all NN intervals was still significantly lower (133.0 ± 32.2 versus 162.8 ± 32.9, p = 0.001) in β-thalassaemia major patients despite normal T2* magnetic resonance imaging values. On the contrary, the standard deviation of all NN intervals was not correlated with haemoglobin levels in these patients (p > 0.05).
ConclusionsHeart rate variability parameters were reduced even in β-thalassaemia major patients without evident cardiac siderosis, as specified by magnetic resonance imaging data. The results of this study show that reduction of heart rate variability may start before cardiac iron loading is demonstrated by T2* magnetic resonance imaging in β-thalassaemia major.
Medical and surgical management of primary cardiac tumours in infants and children
- Massimo A. Padalino, Elena Reffo, Alessia Cerutti, Valentina Favero, Roberta Biffanti, Vladimiro Vida, Giovanni Stellin, Ornella Milanesi
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- 05 March 2013, pp. 268-274
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Primary cardiac tumours in infants and children are extremely rare, with an estimated incidence of 0.2% according to echocardiographic studies. Owing to their rarity, there is very little literature available, and most knowledge is based on collections of case reports. Therefore, we reviewed retrospectively our 27 years of clinical experience on the overall management of cardiac tumours among children in order to improve not only our knowledge but also to provide others with information about the incidence, clinical presentation, management, and long-term outcome of this rare disease. Between April, 1982 and April, 2009, 52 children were diagnosed with cardiac tumours at our Institution. Medical records and follow-up echocardiographic evaluations were studied. The diagnosis was prenatal in 35% of the patients. The most frequent tumour types were rhabdomyomas (61.5%), fibromas (15.4%), and myxomas (5.8%). There were no cases of primary malignant tumours. All diagnoses were achieved using two-dimensional echocardiography, and for 12 patients a pathological analysis was carried out. A total of 41 patients (79%) were managed medically, whereas 11 (21%) patients underwent surgical treatment. At a mean follow-up of 7.2 ± 5.4 years, two patients died of complications related to cardiac transplantation; all the remaining patients are in excellent clinical condition. In conclusion, cardiac tumours in paediatric practice are usually clinically and histologically benign. Only a few cases need surgery. Up to one-third of the cardiac masses are detectable prenatally. Rhabdomyoma is the most common histotype, followed by fibroma and myxoma. The long-term prognosis is generally good.
The impact of actual and perceived disease severity on pre-operative psychological well-being and illness behaviour in adult congenital heart disease patients
- Edward Callus, Elisabeth M. W. J. Utens, Emilia Quadri, Cristian Ricci, Mario Carminati, Alessandro Giamberti, Massimo Chessa
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- 27 March 2013, pp. 275-282
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Objectives: The purpose of this study was to investigate whether the objective medical parameters related to congenital heart disease and patients’ ratings of cardiac disease severity were related to psychological well-being and illness behaviour during the pre-operative period. Methods: A total of 143 patients (63 male patients; 16–73 years old) with congenital heart disease evaluated the severity of their cardiac condition using a numerical rating scale ranging from 0, indicating the least severe condition, to 100, indicating the most severe condition. Psychological well-being was assessed using the Psychological General Well-Being Index (total score ≤60 indicating severe distress) and illness behaviour using the Illness Behavior Questionnaire. Results: Pre-operative psychological well-being was not related to the objective medical parameters reflecting cardiac disease severity. In contrast, total psychological well-being scores correlated significantly with patients’ subjective ratings of disease severity (p < 0.001). When compared with the reference values from the Italian population, the mean scores of the patients on psychological well-being were similar. As regards the Illness Behavior Questionnaire, the scores on denial were higher and those on hypochondria were lower compared with other hospitalised patients. Conclusions: This study shows that the perception of cardiac disease severity, and not the medical parameters in congenital heart disease, is related to the patients’ pre-operative psychological state. Thus, more importance needs to be given to assessing the patients’ pre-operative perception and psychological state independently of cardiac severity. Targeted interventions with regard to the cardiac condition are recommended.
Elevated troponin levels in previously healthy children: value of diagnostic modalities and the importance of a drug screen
- Poonam P. Thankavel, Arshid Mir, Claudio Ramaciotti
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- 05 March 2013, pp. 283-289
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Background: Myocardial injury in previously healthy children is rare, with a wide range of aetiologies. It is increasingly being identified on the basis of elevated troponin levels during routine evaluation of cardiorespiratory symptoms. Establishing the aetiology remains challenging because of the lack of an accepted work-up algorithm. Our objective was to delineate the contribution of diagnostic modalities and troponin patterns towards the final diagnosis. Methods: A retrospective chart review of previously healthy patients admitted to the Pediatric Cardiology Service with myocardial injury was carried out. Data analysed included echocardiograms, electrocardiograms, cardiac catheterisations, magnetic resonance imaging, drug screen tests, troponin values, and final diagnosis. Results: A total of 32 patients were identified. The diagnoses were: myocarditis in 16 patients, vasospasm due to drug use in seven, myopericarditis in six, anomalous coronary artery origins in two, and Prinzmetal's angina in one patient. The electrocardiograms were abnormal in 27 of the 32 patients (84%), echocardiograms in 18 of the 32 patients (56%), cardiac magnetic resonance imaging in two of the four patients (50%), urine drug screen in five of the 25 patients (20%), and cardiac catheterisations in two of the 15 patients (13%). Conclusions: Myocarditis is the most common aetiology of myocardial injury in children. Clinical history remains the basic screening tool; drug screens help identify coronary vasospasms secondary to drug use (22% of our cohort). Patients with anomalous coronaries had exertional symptoms. Initial troponin levels and progression were not diagnostic or prognostic. Catheterisation is of limited value and did not change management. Magnetic resonance imaging with gadolinium enhancement is probably the most useful test when initial evaluation is not diagnostic.
Fontan completions over 10 years after Glenn procedures
- Koichi Sughimoto, Kozo Matsuo, Koichiro Niwa, Yasutaka Kawasoe, Shigeru Tateno, Takeaki Shirai, Masashi Kabasawa, Masanao Ohba
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- 27 March 2013, pp. 290-296
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Objective: Despite the broadened indications for Fontan procedure, there are patients who could not proceed to Fontan procedure because of the strict Fontan criteria during the early period. Some patients suffer from post-Glenn complications such as hypoxia, arrhythmia, or fatigue with exertion long after the Glenn procedure. We explored the possibility of Fontan completion for those patients. Methods: Between 2004 and 2010, five consecutive patients aged between 13 and 31 years (median 21) underwent Fontan completion. These patients had been followed up for more than 10 years (10 to 13, median 11) after Glenn procedure as non-Fontan candidates. We summarise these patients retrospectively in terms of their pre-operative physiological condition, surgical strategy, and problems that these patients hold. Results: Pre-operative catheterisation showed pulmonary vascular resistance ranging from 0.9 to 3.7 (median 2.2), pulmonary to systemic flow ratio of 0.3 to 1.6 (median 0.9), and two patients had significant aortopulmonary collaterals. Extracardiac total cavopulmonary connections were performed in three patients, lateral tunnel total cavopulmonary connection in one patient, and intracardiac total cavopulmonary connection in one patient, without a surgical fenestration. Concomitant surgeries were required including valve surgeries – atrioventricular valve plasty in three patients and tricuspid valve replacement in one patient; systemic outflow tract obstruction release – Damus–Kaye–Stansel procedure in two patients and subaortic stenosis resection in one patient; and anti-arrhythmic therapies – maze procedure in two patients, cryoablation in two patients, and pacemaker implantation in two patients. All patients are now in New York Heart Association category I. Conclusion: Patients often suffer from post-Glenn complications. Of those, if they are re-examined carefully, some may have a chance to undergo Fontan completion and benefit from it. Multiple lesions such as atrioventricular valve regurgitation, systemic outflow obstruction, or arrhythmia should be surgically repaired concomitantly.
Trends in paediatric, neonatal, and adult cardiology publications over the past 10 years
- Samuel Menahem, Daniel Fink, Francis B. Mimouni
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- 27 June 2013, pp. 297-302
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Objective: Medline classifies publications as clinical trials, randomised control trials, meta-analyses, practice guidelines, reviews, case reports, editorials, and letters. We tested the hypothesis that cardiology-related publications have increased with a shift in the type of publications over the past 10 years by age category. Methods: To retrieve from Medline the cardiology articles, we used the keyword “heart disease”, but limited the search to articles in English from 2000 to 2009. We repeated the search using one limit according to the publication type and using age tags. We used regression analysis to determine the effect of the year of publication on the number of publications of each type. Results: During the 10-year period, Medline registered 152,849 cardiology articles, doubling from 10,452 in 2000 to 20,841 in 2009, of which 8.5% were tagged as both paediatric and adult. There was a linear increase in the number over the study period in the total number of publications and in all categories, except for practice guidelines. There was almost a twofold increase in adult and neonatal articles, but ∼70% in paediatric articles. The rate of increase was 66% for randomised control trials, 73% for clinical trials, 124% for meta-analyses, 117% for editorials, 36% for reviews, and 103% for case reports. Practice guidelines remained very low, increasing significantly for paediatric and neonatal articles. Conclusions: There was a substantial increase in cardiology articles over the past 10 years, being greater for adult and neonatal articles compared with paediatric articles. The increase varied according to the type of article.
22q11.2 deletion syndrome as a risk factor for aortic root dilation in tetralogy of Fallot
- Anitha S. John, Jack Rychik, Munziba Khan, Wei Yang, Elizabeth Goldmuntz
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- 10 April 2013, pp. 303-310
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Background: Aortic root dilation has been observed in some patients with tetralogy of Fallot. This study examines whether 22q11.2 deletion is a risk factor for aortic root dilation in tetralogy of Fallot. Methods: Patients with tetralogy of Fallot, in the age group of 6–18 years, with defined deletion status and echocardiograms (2003–2009) were identified from research databases. The diameter at the aortic annulus, sinus, and sinotubular junction was measured and analysed as Z-scores. Variables were examined in univariate and multivariate regression analysis. Results: Of 171 patients, 66% were male, 16% had 22q11.2 deletion, 40% had an aortic arch anomaly, and 11% had both a 22q11.2 deletion and aortic arch anomaly. Echocardiograms were performed at a mean age of 12 + 3 years. More patients with 22q11.2 deletion had Z-scores >3 at the sinus diameter (45% versus 35%, p = 0.02). In the multivariate analysis, the combination of 22q11.2 deletion and aortic arch anomalies was associated with both aortic annular dilation (p = 0.006) and aortic sinus dilation (p = 0.05). In the subset with pulmonary valve atresia, similar findings were observed at the aortic annulus (Z-score of 4.6 versus 2.2, p = 0.05) and the sinuses (Z-score of 4.4 versus 2.7, p = 0.06). Male sex (p < 0.03) and pulmonary atresia (p < 0.006) were additional risk factors for dilation at the annulus and sinuses. Conclusions: Children with tetralogy of Fallot with 22q11.2 deletion and aortic arch anomalies have increased aortic annular and aortic sinus dilation. Further longitudinal study is needed to assess whether both features are associated with progressive aortic root dilation.
New insights into the aspects of pulmonary diffusing capacity in Fontan patients
- Lars Idorn, Birgitte Hanel, Annette S. Jensen, Klaus Juul, Jesper I. Reimers, Kim G. Nielsen, Lars Søndergaard
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- 03 April 2013, pp. 311-320
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Background: Patients with a functionally univentricular heart, palliated a.m. Fontan, consequently have non-pulsatile pulmonary blood flow and are known to have a reduced pulmonary diffusing capacity. However, the cause of this reduction remains unclear. We aimed to assess the possible determinants in the aetiology of a reduced diffusing capacity and also to assess whether it could be increased. Furthermore, we aimed to search for predictors of a reduced diffusing capacity. Material and methods: A total of 87 Fontan patients (mean age 16.3 ± 7.6 years) performed advanced pulmonary function tests and maximal cycle ergometer tests. A total of 10 Fontan patients and nine matched controls performed a supine pulmonary function test after a supine rest. Results: In the sitting pulmonary function test, the mean z-scores were: diffusing capacity, 2.38 ± 1.20; pulmonary capillary blood volume, 2.04 ± 0.80; and alveolar capillary membrane diffusing capacity, 0.14 ± 0.84. In the supine compared with the sitting pulmonary function test, the diffusing capacity increased by 51.7 ± 11.9% in the Fontan group and by 23.3 ± 17.7% in the control group (p < 0.001); moreover, the pulmonary capillary blood volume increased by 48.3 ± 17.4% in the Fontan group and by 20.2 ± 13.9% in the control group (p = 0.001). In a multiple linear regression analysis including the explanatory variables of surgical data and exercise data at rest and peak exercise, the resting cardiac index was an independent predictor of the diffusing capacity (regression coefficient: 0.18, p < 0.001). Conclusions: The pulmonary diffusing capacity was reduced in Fontan patients because of a reduced pulmonary capillary blood volume, whereas the alveolar capillary membrane diffusing capacity was preserved. The diffusing capacity was highly increasable in Fontan patients compared with controls, and the resting cardiac index was an independent predictor of the diffusing capacity.
Disease-specific knowledge and information preferences of young patients with congenital heart disease
- Wiebke Lesch, Katharina Specht, Anke Lux, Michael Frey, Elisabeth Utens, Ulrike Bauer
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- 29 April 2013, pp. 321-330
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Aims
Persons suffering from congenital heart defects require lifelong specialist medical care. Failure to attend cardiological follow-up examinations and risky health behaviour in the transition phase may cause severe medical complications. A good level of disease-specific knowledge enhances compliance. Therefore, the study's aim was to investigate: (a) the level of disease-specific knowledge, (b) information preferences, and (c) sources of information for children, adolescents, and young adults regarding their illness.
Methods and resultsIn all, 596 patients, aged 10–30 years, participated in this cross-sectional survey study (response rate: 53%). All patients were already enrolled in the German National Register for Congenital Heart Defects. The main outcome measures included disease-specific knowledge, information preferences, and information sources regarding patients’ individual cardiac condition. The patients demonstrated a major knowledge gap concerning their illness and how to live with it. For all three age groups, patients’ information needs were unmet on nearly half of the topics of interest. Children's information needs were comparable to those of adolescents and adults concerning several important topics, for example, work/career, sports. Information preferences varied according to age and gender, rather than disease severity. The most important sources of information were physicians (71.0%), family and friends (58.2%), and the Internet (37.5%).
ConclusionThe study revealed substantial knowledge gaps, indicating a need for structured multidisciplinary patient education interventions. These interventions should start as early as in childhood and help patients manage their condition and assume responsibility for their own health, so that the transition phase runs smoothly.
Viral endomyocardial infection in the 1st year post transplant is associated with persistent inflammation in children who have undergone cardiac transplant
- Kimberly Molina, Susan Denfield, Yuxin Fan, Mousumi Moulik, Jeffrey Towbin, William Dreyer, Joseph Rossano
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- 17 May 2013, pp. 331-336
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Background: Viral genome in cardiac allograft has been associated with early graft loss in children who have undergone cardiac transplant from unknown mechanisms. Methods: This study is a retrospective review of children who have undergone cardiac transplant at a single institution from 1/2004 to 5/2008. Patients underwent cardiac catheterisations with endomyocardial biopsies to evaluate for rejection – graded on Texas Heart Institute scale – and the presence of virus by polymerase chain reaction. Patients with virus identified during the first year post transplant were compared at 1 year post transplant with virus-free patients. Results: The cohort comprised 59 patients, and the median age at transplant was 5.1 years. Viral genomes were isolated from 18 (31%) patients. The PCR + group had increased inflammation on endomyocardial biopsies, with a median score of 4 (ISHLT IR) versus 1 (ISHLT 1R) in the PCR – group (p = 0.014). The PCR + group had a similar cardiac index (median 3.7 ml/min/m2), pulmonary capillary wedge pressure (median 10 mmHg), and pulmonary vascular resistance index (median 1.7 U m2) comparatively. PCR + patients were more likely to have experienced an episode of rejection (p = 0.004). Conclusions: Children who developed viral endomyocardial infections after a cardiac transplant have increased allograft inflammation compared with virus-free patients. However, the haemodynamic profile is similar between the groups. The ongoing subclinical inflammation may contribute to the early graft loss associated with these patients.
Respiratory syncytial virus prophylaxis in children with cardiac disease: a retrospective single-centre study
- Michelle Butt, Amanda Symington, Marianne Janes, Susan Steele, LouAnn Elliott, Catherine Chant-Gambacort, Tapas Mondal, Bosco Paes
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- Published online by Cambridge University Press:
- 29 April 2013, pp. 337-343
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Objectives
To examine the characteristics of congenital heart disease patients hospitalised with respiratory syncytial virus infection after prophylaxis and determine the associated comorbidities and the incidence of breakthrough respiratory syncytial virus infections.
Study designThis is a retrospective, single-centre study that was conducted over a period of 7 years. Respiratory syncytial virus infection was identified by classification codes and confirmed by virological tests. Data on baseline demographics, cardiac anomalies, other underlying disease, criteria for hospitalisation, type of respiratory illness and management, complications, and palivizumab prophylaxis were analysed by standard descriptive methods and comparative statistics.
ResultsA total of 30 patients were enrolled. The majority were ≤2 years (n = 24). The mean admission age was 15.1 months (standard deviation = 18.3). In all, 90% were acyanotic, 40% had haemodynamically significant disease, and 60% had ≥1 underlying medical illness. Patients were admitted with: respiratory distress (86.7%), hypoxaemia (66.7%), fever (60%), inability to maintain oral intake (36.7%), and apnoea (16.7%). More than 50% required mechanical ventilation and intensive care with a median stay of 11 days (range: 1–43); the length of hospital stay for all children was 10 days (range: 1–65). Complications included: concurrent bacterial sepsis (20%), electrolyte abnormalities (16.7%), and worsening pulmonary hypertension (13.3%). Of 10 infants ≤2 years with haemodynamically significant heart disease, four had received prophylaxis. There was one death, which was attributed to respiratory syncytial virus infection.
ConclusionsOverall, 185 infants ≤2 years with haemodynamically significant cardiac disease received prophylaxis. In all, six qualifying infants missed immunisation and were hospitalised. Breakthrough respiratory syncytial virus infections occurred in 2.2%, demonstrating good efficacy of palivizumab in this population compared with the original, multi-centre, randomised trial.
Reimbursement by current German Diagnosis-Related Groups system penalises complex congenital heart surgery
- Nicodème Sinzobahamvya, Thorsten Kopp, Claudia Arenz, Hedwig C. Blaschczok, Viktor Hraska, Boulos Asfour
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- Published online by Cambridge University Press:
- 13 May 2013, pp. 344-350
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A total of 458 hospital stays during the year 2011 were analysed to determine whether reimbursement by the current German Diagnosis-Related Groups system covers the costs incurred during hospital stay for congenital heart surgery. The costs of every hospital stay were estimated according to the guidelines of the Institute for the Hospital Remuneration System, an institute responsible for encoding hospital reimbursement in Germany. Cost-weight values of the year 2012 were applied for reimbursement. Related additional compensations were also included. Hospital costs ranged from 8896.26 to 193,671.94 euros per case, with a mean of 30,597 and standard deviation of 25,032 euros. Reimbursement varied from 8630.35 to 173,710.65 euros, with a mean of 25,514 and standard deviation of 18,497 euros: an underfunding of 17%. Fifty-nine per cent (271/458) of cases were classified, according to Aristotle complexity score, in higher comprehensive complexity: Levels 4–6. Costs highly correlated with complexity levels (Spearman's r coefficient = 0.89) and the regression was linear. Underfunding increased, linearly, from 6% for procedures with Level 1, lowest comprehensive complexity, to 23% for those with Level 6, highest complexity. In conclusion, this study demonstrates that reimbursement by the current German Diagnosis-Related Groups system increasingly penalises complex congenital heart surgery. Aristotle complexity score could help to correct this prejudicial situation.