Review Article
The independence of the infundibular building blocks in the setting of double-outlet right ventricle
- Vera D. Aiello, Diane E. Spicer, Robert H. Anderson, Nigel A. Brown, Timothy J. Mohun
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- Published online by Cambridge University Press:
- 27 March 2017, pp. 825-836
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It has long been contentious as to whether the presence of bilateral infundibulums, or conuses, is a prerequisite for the diagnosis of double-outlet right ventricle. As the use of such a criterion would abrogate the so-called “morphological method”, which correctly states that one variable entity should not be defined on the basis of another entity that is itself variable, it is now accepted that double outlet can exist in the setting of fibrous continuity between the leaflets of the atrioventricular and arterial valves. Although this debate has now been resolved, there are other contentious areas still requiring clarification in the setting of hearts unified because of the presence of this particular ventriculo-arterial connection – for example, it is questionable whether the channel between the ventricles should be described as a “ventricular septal defect”, whereas it is equally arguable that the mere presence of fibrous continuity between the leaflets of the arterial valves does not necessarily place the channel in a doubly committed location. In this review, we describe a series of autopsied hearts in which the anatomical features serve to illuminate these various topics. We then discuss recent findings regarding cardiac development that point to the individuality of the building blocks of the ventricular outflow tracts, specifically the outlet septum, the inner heart curvature, or ventriculo-infundibular fold, and the septomarginal trabeculation, or septal band.
Original Articles
Comparison of self-expandable and balloon-expanding stents for hybrid ductal stenting in hypoplastic left heart complex
- Sebastian Goreczny, Shakeel A. Qureshi, Eric Rosenthal, Thomas Krasemann, Mohamed S. Nassar, David R. Anderson, Gareth J. Morgan
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- Published online by Cambridge University Press:
- 30 August 2016, pp. 837-845
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Objectives
We aimed to compare the procedural and mid-term performance of a specifically designed self-expanding stent with balloon-expandable stents in patients undergoing hybrid palliation for hypoplastic left heart syndrome and its variants.
BackgroundThe lack of specifically designed stents has led to off-label use of coronary, biliary, or peripheral stents in the neonatal ductus arteriosus. Recently, a self-expanding stent, specifically designed for use in hypoplastic left heart syndrome, has become available.
MethodsWe carried out a retrospective cohort comparison of 69 neonates who underwent hybrid ductal stenting with balloon-expandable and self-expanding stents from December, 2005 to July, 2014.
ResultsIn total, 43 balloon-expandable stents were implanted in 41 neonates and more recently 47 self-expanding stents in 28 neonates. In the balloon-expandable stents group, stent-related complications occurred in nine patients (22%), compared with one patient in the self-expanding stent group (4%). During follow-up, percutaneous re-intervention related to the ductal stent was performed in five patients (17%) in the balloon-expandable stent group and seven patients (28%) in self-expanding stents group.
ConclusionsHybrid ductal stenting with self-expanding stents produced favourable results when compared with the results obtained with balloon-expandable stents. Immediate additional interventions and follow-up re-interventions were similar in both groups with complications more common in those with balloon-expandable stents.
Anatomical considerations for the management of a left-sided superior caval vein draining to the roof of the left atrium
- Jelena Saundankar, Andrew B. Ho, Anthony P. Salmon, Robert H. Anderson, Alan G. Magee
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- 29 September 2016, pp. 846-850
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Aims
The pathophysiological entity of a persisting left-sided superior caval vein draining into the roof of the left atrium represents an extreme form of coronary sinus de-roofing. This is an uncommon, but well-documented condition associated with systemic desaturation due to a right-to-left shunt. Depending on the size of the coronary ostium, the defect may also present with right-sided volume loading. We describe two patients, both of whom presented with desaturation, and highlight the important anatomical features underscoring management.
Methods and ResultsBoth patients were managed interventionally with previous assessment of the size of the coronary sinus ostium through cross-sectional imaging. This revealed a restrictive interatrial communication at the right atrial mouth of the coronary sinus in both patients, which permitted an interventional approach, as the residual left-to-right shunt subsequent to closure of the aberrant vessel would be negligible. At intervention, test occlusion of the left superior caval vein allowed assessment of decompressing vessels before successful occlusion using an Amplatzer Vascular Plug.
ConclusionsPersistence of a left superior caval vein draining to the left atrium may be associated with an interatrial communication at the mouth of the unroofed coronary sinus. The ostium of the de-roofed coronary sinus can be atretic, restrictive, normally sized, or enlarged. Careful assessment of the size of this defect is required before treatment. In view of its importance, which has received little attention in the literature to date, we suggest an additional consideration to the classification of unroofed coronary sinus.
Cognitive dysfunction in adult CHD with different structural complexity
- Manavi Tyagi, Theodora Fteropoulli, Catherine S. Hurt, Shashivadan P. Hirani, Lorna Rixon, Anna Davies, Nathalie Picaut, Fiona Kennedy, John Deanfield, Shay Cullen, Stanton P. Newman
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- Published online by Cambridge University Press:
- 18 October 2016, pp. 851-859
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Objective
We carried out a cross-sectional study to assess cognitive function in a sample of adult CHD patients, within the Functioning in Adult Congenital Heart Disease study London. The association between cognitive functioning and disease complexity was examined.
MethodsA total of 310 patients participated in this study. Patients were classified into four structural complexity groups – tetralogy of Fallot, transposition of the great arteries, single ventricle, and simple conditions. Each patient underwent neuropsychological assessment to evaluate cognitive function, including memory and executive function, and completed questionnaires to assess depression and anxiety.
ResultsAmong all, 41% of the sample showed impaired performance (>1.5 SD below the normative mean) on at least three tests of cognitive function compared with established normative data. This was higher than the 8% that was expected in a normal population. The sample exhibited significant deficits in divided attention, motor function, and executive functioning. There was a significant group difference in divided attention (F=5.01, p=0.002) and the mean total composite score (F=5.19, p=0.002) between different structural complexity groups, with the simple group displaying better cognitive function.
ConclusionThe results indicate that many adult CHD patients display impaired cognitive function relative to a healthy population, which differs in relation to disease complexity. These findings may have implications for clinical decision making in this group of patients during childhood. Possible mechanisms underlying these deficits and how they may be reduced or prevented are discussed; however, further work is needed to draw conclusive judgements.
Early postoperative extubation of unstable patients following total cavopulmonary connection: impact on circulation and outcome
- Stanimir Georgiev, Gunter Balling, Bettina Ruf, Kilian Ackermann, Jelena P. von Ohain, Christian Schreiber, Peter Ewert
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- Published online by Cambridge University Press:
- 18 October 2016, pp. 860-869
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Objectives
We aimed to investigate whether early postoperative extubation following the Fontan operation is universally feasible and can be used as a management tool in unstable patients.
MethodsAll patients undergoing the Fontan operation in our centre between 2004 and 2013 (n=253) were analysed. Until 2008, patients were extubated according to standard criteria and comprised group 1. Group 2 included all patients presenting after 2009, when early extubation was always aimed regardless of the haemodynamic status. Patients who exceeded the 75th percentiles for volume requirements and inotrope scores for the respective group were defined as unstable. Comparisons of outcomes between groups and subgroups and analysis of the changes in haemodynamic and treatment parameters with extubation in unstable patients after 2009 were performed.
ResultsCompared with group 1, patients from group 2 were ventilated for shorter duration (p<0.001), had similar re-intubation rates (p=0.50), and needed less volume (p=0.01). In group 2, the unstable patients were not ventilated for longer durations (p=0.19), but had higher re-intubation rates (p=0.03) than the stable patients. Compared with the unstable patients from group 1, the unstable patients from group 2 were ventilated for shorter duration (p<0.001), had similar re-intubation rates (p=0.66), and needed less volume (p=0.006). There was a significant acute and sustained increase in mean arterial pressure with extubation and a parallel reduction in volume requirements and inotrope scores in the unstable patients from group 2.
ConclusionsTimely extubation is universally applicable following the Fontan operation. Early postoperative extubation can be valuable for improving Fontan haemodynamics.
A 30-year experience with mixed-type total anomalous pulmonary venous connection: a word of caution
- Brian Kogon, Jan Fernandez, Subhadra Shashidharan, Kirk Kanter, Bahaaldin Alsoufi
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- Published online by Cambridge University Press:
- 20 September 2016, pp. 870-876
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Background
Patients with total anomalous pulmonary venous connection can be problematic, particularly those with mixed-type pathology. We aimed to describe a cohort of patients with mixed-type anomalous drainage, highlighting the treatment challenges, and identifying risk factors for poor outcome.
MethodsWe reviewed the clinical records of patients who underwent repair for mixed-type total anomalous pulmonary venous connection between 1986 and 2015.
ResultsA total of 19 patients were identified. The median age and weight of patients at surgery were 18 days (with a range from 1 to 185) and 3.4 kg (with a range from 1.9 to 6.5), respectively. Venous anatomy included a combination of duplicate supracardiac (four), supracardiac and cardiac (11), and supracardiac and infracardiac (four) drainage. Out of 19 patients, six (32%) died within 30 days or the initial hospital stay; two additional patients died from progressive pulmonary vein stenosis at 72 and 201 days, respectively, resulting in 42% mortality within the 1st year. Follow-up data were available for 8/11 long-term survivors. The median follow-up period was 7.3 years (with a range from 1.8 to 15.7). Only one patient underwent re-intervention for recurrent pulmonary vein stenosis. For surgical mortality, no statistically significant risk factors were identified, although the risk trended to be higher (p⩽0.1) with lower age and weight, an infracardiac component, and prolonged cardiopulmonary bypass. For 1-year mortality, the risk became significant (p⩽0.05) with a lower weight (p=0.01), an infracardiac component (p=0.03), and prolonged cardiopulmonary bypass (p=0.04).
ConclusionThe surgical and 1-year mortality in patients with mixed-type total anomalous pulmonary venous connection is high. On the other hand, among patients who survive past the 1st year, most have good outcomes without subsequent sequelae.
Importance of anatomical dominance in the evaluation of coronary dilatation in Kawasaki disease
- Audrey Dionne, Baher Hanna, Frédérick Trinh Tan, Laurent Desjardins, Chantale Lapierre, Julie Déry, Anne Fournier, Nagib Dahdah
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- 19 September 2016, pp. 877-883
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Introduction
In Kawasaki disease, although coronary dilatation is attributed to vasculitis, the effect of myocardial inflammation is underestimated. Coronary dilatations are determined by Z-scores, which do not take into account dominance. The aim of the present study was to describe the impact of coronary dominance on dilatation in Kawasaki disease.
MethodsWe performed a retrospective analysis of coronary dilatations according to angiography categorisation of dominance.
ResultsOf 28 patients (2.6 [0.2–10.1] years), right dominance was present in 15 patients and left in 13. Early dilatation was present in all patients, of whom 11 were ipsilateral to the dominant segment and 17 contralateral. Ipsilateral dilatations were present at diagnosis (9/11 versus 6/17, p=0.02) compared with contralateral dilatations, which developed 2 weeks after diagnosis (9/11 versus 16/17, p=0.29). Coronary artery Z-scores of patients with contralateral dilatation increased at 2 weeks, before returning to baseline values (2.0±2.2 at diagnosis, 4.1±1.8 at 2 weeks, 1.8±1.2 at 3–6 months, p=0.001), compared with patients with ipsilateral dilatation in whom Z-scores were maximal at diagnosis and remained stable (3.0±0.9, 2.7±1.1 and 2.6±1.5, respectively, p=0.13). Dominant coronary artery Z-scores were higher compared with non-dominant segments at diagnosis (3.0±0.9 versus 1.0±0.8, p<0.001) and at late follow-up (2.6±1.5 versus 0.4±1.4, p=0.002) in patients with ipsilateral dilatation.
ConclusionProgression of coronary dilatation after diagnosis may be a sign of dilatation secondary to vasculitis, as opposed to regression of Z-scores in ipsilateral dilatations, probably related to physiological vasodilatation in response to carditis. This needs to be validated in larger studies against vasculitic and myocardial inflammatory markers.
A survey of paediatricians on the use of electrocardiogram for pre-participation sports screening
- Angira Patel, Gregory Webster, Kendra Ward, John Lantos
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- 10 October 2016, pp. 884-889
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Aim
The aim of the present study was to determine general paediatrician knowledge, practices, and attitudes towards electrocardiogram (ECG) screening in school athletes during pre-participation screening exam (PPSE).
MethodsPaediatricians affiliated with a tertiary children’s hospital completed a survey about ECGs for PPSE.
ResultsIn total, 205/498 (41%) responded; 92% of the paediatricians did not include an ECG as part of PPSE; 56% were aware of a case in which a student athlete in their own community had died of sudden unexplained death; 4% had an athlete in their practice die. Only 16% of paediatricians perform all 12 American Heart Association recommended elements of the PPSE. If any of these screening elements are abnormal, 69% obtain an ECG, 36% an echocardiogram, and 30% restrict patients from sports activity; 73% of them refer the patient to a cardiologist.
ConclusionMost of the general paediatricians surveyed did not currently perform ECGs for PPSE. In addition, there was a low rate of adherence to performing the 12 screening elements recommended by the American Heart Association. They have trouble obtaining timely, accurate ECG interpretations, worry about potential unnecessary exercise restrictions, and cost-effectiveness. The practical hurdles to ECG implementation emphasise the need for a fresh look at PPSE, and not just ECG screening. Improvements in ECG performance/interpretation would be necessary for ECGs to be a useful part of PPSE.
Observations on obesity patterns in tetralogy of Fallot patients from childhood to adulthood
- David A. Briston, Aarthi Sabanayagam, Ali N. Zaidi
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- 22 September 2016, pp. 890-894
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Obesity is increasingly prevalent, and abnormal body mass index is a risk factor for cardiovascular disease. There are limited data published regarding body mass index and CHD. We tested the hypothesis that body mass index and obesity prevalence are increasing in patients with tetralogy of Fallot over time by analysing time since surgery, age, height, weight, and body mass index among tetralogy of Fallot patients and demographic data from age-matched controls. NYHA class and left ventricular ejection fraction were analysed in adults. Body mass index was categorised into normal, overweight, and obese in this single-centre, retrospective chart review. Data were collected from 137 tetralogy of Fallot patients (71 men:66 women), of whom 40 had body mass index >25 kg/m2. Tetralogy of Fallot patients aged <6 years had lower body mass index (15.9 versus 17.1; p=0.042) until 16–20 years of age (27.4 versus 25.4; p=0.43). For adult tetralogy of Fallot patients, the mean body mass index was 26.5 but not statistically significantly different from the control cohort. Obese adult patients had significantly higher average NYHA class compared with those of normal weight (p=0.03), but no differences in left ventricular ejection fraction by echocardiography (p=0.55) or cardiac MRI (p=0.26) were noted. Lower body mass index was observed initially in tetralogy of Fallot patients, but by late adolescence no significant difference was observed. As adults, tetralogy of Fallot patients with higher body mass index had increased NYHA class but similar left ventricular ejection fraction.
Quality of life and exercise performance in unoperated children with anomalous aortic origin of a coronary artery from the opposite sinus of valsalva
- Alan C. Sing, Stephen Tsaur, Stephen M. Paridon, Julie A. Brothers
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- 26 September 2016, pp. 895-904
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Background
Anomalous aortic origin of a coronary artery is a congenital cardiac condition that can be associated with increased risk of sudden death. To date, quality of life and exercise performance have not been evaluated in patients with this condition who do not undergo surgical repair.
MethodsWe carried out a cross-sectional analysis of patients with unoperated anomalous aortic origin of a coronary artery at our institution from 1 January, 2000 to 31 January, 2016. We prospectively assessed quality of life using standardised questionnaires. Medical records were reviewed for clinical and exercise stress test data. Statistical analyses were performed using Student’s t-tests and Spearman’s correlation coefficients.
ResultsIn total, 56 families completed the questionnaires. The average age at enrolment was 14.7±6 years. The majority were male (n=44, 78.6%) and had interarterial anomalous right coronary artery (n=38, 67.9%). Patients had normal quality of life on the PedsQL 4.0 Report, Child Health Questionnaire Child Form 87, and SF-36v2. Their parents had normal quality of life on the PedsQL 4.0 Parent Report, but parents of exercise-restricted patients had decreased Physical Functioning, General Health Perception, Emotional Impact on Parent, and Physical Summary scores (p<0.001–0.048) on the Child Health Questionnaire Parent Form 50.
ConclusionsPatients with unoperated anomalous aortic origin of a coronary artery appear to have normal quality of life, but parents of exercise-restricted patients have decreased general health and emotional and physical quality of life scores. Improved counselling of families may be beneficial in this group. Future studies with more patients should evaluate quality of life and exercise performance over time.
Antihypertensive drug exposure in premature infants from 1997 to 2013
- Srikanth Ravisankar, Devon Kuehn, Reese H. Clark, Rachel G. Greenberg, P. Brian Smith, Christoph P. Hornik
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- 17 October 2016, pp. 905-911
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Background
Systemic hypertension is increasingly recognised in premature infants. There is limited evidence regarding treatment, and most published treatment recommendations are based solely on expert opinions.
MethodsWe identified all infants born ⩽32 weeks of gestation and ⩽1500 g birth weight discharged from one of 348 neonatal ICUs managed by the Pediatrix Medical Group between 1997 and 2013. We defined antihypertensive drugs as vasodilators, angiotensin-converting enzyme inhibitors, β receptor blockers, calcium channel blockers, and central α2 receptor agonists. We compared characteristics between infants who were treated with at least one antihypertensive drug during their initial hospitalisation and infants who were not prescribed antihypertensive drugs using Wilcoxon’s ranked sum test or Pearson’s χ2-test.
ResultsWe identified 2504/119,360 (2.1%) infants who required at least one antihypertensive drug. The median postnatal age of first exposure was 48 days (25th, 75th percentile 15, 86), and the median length of therapy was 6 days (1, 16). Hydralazine was the most commonly prescribed antihypertensive with 1280/2504 (51.1%) treated infants exposed to the drug. More than two antihypertensive drugs were administered in 582/2504 (23.2%) infants, and 199/2097 (9.5%) of the treated infants were discharged home on antihypertensive therapy. Infants who received antihypertensive drugs were of lower gestational age (p<0.001) and birth weight (p<0.001) compared with infants not prescribed antihypertensive drugs.
ConclusionsOur study is the largest to describe current antihypertensive drug exposure in a cohort of exclusively premature infants born ⩽32 weeks of gestation. We found wide variations in practice for treating hypertension in premature infants.
The impact of femoral arterial thrombosis in paediatric cardiac catheterisation: a national study
- Jina Kim, Zhifei Sun, Ehsan Benrashid, Kevin W. Southerland, Jeffrey H. Lawson, Gregory A. Fleming, Kevin D. Hill, Elisabeth T. Tracy
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- 08 November 2016, pp. 912-917
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Background
Previous studies have identified risk factors for femoral arterial thrombosis after paediatric cardiac catheterisation, but none of them have evaluated the clinical and economic significance of this complication at the population level. Therefore, we examined the national prevalence and economic impact of femoral arterial thrombosis after cardiac catheterisation in children.
MethodsPatients⩽18 years of age who underwent cardiac catheterisation were identified in the 2003–2009 Kids’ Inpatient Database. Patients were stratified by age as follows: <1 year of age or 1–18 years of age. The primary outcome was arterial thrombosis of the lower extremity during the same hospitalisation as cardiac catheterisation. Propensity score matching was used to determine the impact of femoral arterial thrombosis on hospital length of stay, cost, and mortality.
ResultsAmong the 11,497 paediatric cardiac catheterisations identified, 4558 catheterisations (39.6%) were performed in children <1 year of age. This age group experienced a higher prevalence of reported femoral arterial thrombosis, compared with children aged 1–18 years (1.3 versus 0.3%, p<0.001). After matching, femoral arterial thrombosis in children <1 year of age was associated with similar mortality (5.4 versus 1.8%, p=0.28), length of stay (8 versus 5 days, p=0.11), and total hospital cost ($27,135 versus $28,311, p=0.61), compared with absence of thrombosis.
ConclusionsFemoral arterial thrombosis is especially prevalent in children <1 year of age undergoing cardiac catheterisation. Clinicians should be vigilant in monitoring femoral arterial patency in neonates and infants after cardiac catheterisation.
Impact of sickle cell anaemia on cardiac chamber size in the paediatric population
- Philippe M. Adjagba, Gaston Habib, Nancy Robitaille, Yves Pastore, Marie-Josée Raboisson, Daniel Curnier, Nagib Dahdah
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- Published online by Cambridge University Press:
- 14 November 2016, pp. 918-924
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Purpose
Sickle cell disease is known to cause various degrees of vasculopathy, including impact on heart function. The aims of this single-centre, retrospective study were to assess cardiac chamber size and function and the relationship with haematological indices such as haemoglobin, aspartate aminotransferase, reticulocytosis and bilirubin, lactate dehydrogenase in sickle cell disease.
MethodsRight ventricle and left ventricle diastolic diameters, left ventricle mass estimate, left ventricle shortening fraction, myocardial performance index, and an index of myocardial relaxation (E/E’) were calculated and correlated with haematological parameters.
ResultsA total of 110 patients (65% haemoglobin SS, 29% haemoglobin SC) were studied at a mean age of 12.14±5.26 years. Right ventricle dilatation and left ventricle dilatation were present in 61.5 and 42.9%, respectively. Left ventricle mass was abnormal in 21.9%; all patients had normal myocardial performance index, 31.4% had abnormal E/E’, and left ventricle shortening fraction was low in 38.1%. Cardiac dilatation was best correlated with haemoglobin, aspartate aminotransferase, reticulocytosis and bilirubin. Best subset regression analysis yielded significant additional prediction for right ventricle or left ventricle dilatation with haemoglobin, bilirubin, and lactate dehydrogenase. Abnormal E/E’ was solely predictable with haemoglobin level. Hydroxyurea-treated patients had improved diastolic function.
ConclusionRight ventricle dilatation was more prevalent than left ventricle dilatation. The long-term consequences of right ventricular dilatation, clinical consequences, and association with pulmonary vasculopathy need to be further determined.
Fontan completion in reverse order out of necessity: secondary Glenn after primary extracardiac inferior cavopulmonary artery connection
- Jannika Dodge-Khatami, Avichal Aggarwal, Mary B. Taylor, Douglas Maposa, Jorge D. Salazar, Ali Dodge-Khatami
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- 28 October 2016, pp. 925-928
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The primary extracardiac inferior cavopulmonary connection is an unusual novel palliation for single-ventricle physiology, which we first performed in the setting of unfavourable upper-body systemic venous anatomy for a standard bi-directional Glenn, and in lieu of leaving our patient with shunt-dependent physiology. After an initial 16-month satisfactory follow-up, increasing cyanosis led to the discovery of a veno-venous collateral that was coiled, but, more importantly, to impressive growth of a previously diminutive superior caval vein, which allowed us to perform completion Fontan with a good outcome. Performing the single-ventricle staging in a reverse manner, first from below with a primary inferior cavopulmonary connection, followed by Fontan completion from above with a standard superior caval vein bi-directional Glenn, is also possible when deemed necessary.
The association between pro-arrhythmic agents and aortic stenosis in young adults: is it sufficient to clarify the sudden unexpected deaths?
- Bojana Radnic, Nemanja Radojevic, Jelena Vucinic, Natasa Duborija-Kovacevic
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- 08 November 2016, pp. 929-935
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Most young patients with mild-to-moderate aortic stenosis show no symptoms, and sudden death appears only occasionally. We hypothesised that malignant ventricular arrhythmias could be responsible for the high incidence of sudden death in such patients. If multiple factors such as asymptomatic aortic stenosis in association with arrhythmia-provoking agents are involved, could it be sufficient to account for sudden unexpected death? In this study, eight cases of sudden death in young adults, with ages ranging from 22 to 36 years, who had never reported any symptoms that could be related to aortic stenosis, were investigated. Full autopsies were performed, and congenital aortic stenosis in all eight cases was confirmed. DNA testing for channelopathies was negative. Comprehensive toxicological analyses found an electrolyte imbalance, or non-toxic concentrations of amitriptyline, terfenadine, caffeine, and ethanol. Collectively, these results suggest that congenital asymptomatic aortic stenosis without cardiac hypertrophy in young adults is not sufficient to cause sudden death merely on its own; rather, an additional provoking factor is necessary. According to our findings, the provoking factor may be a state of physical or emotional stress, a state of electrolyte imbalance, or even taking a therapeutic dose of a particular drug.
Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature
- Stella Mazurova, Martin Magner, Vendula Kucerova-Vidrova, Alzbeta Vondrackova, Viktor Stranecky, Anna Pristoupilova, Josef Zamecnik, Hana Hansikova, Jiri Zeman, Marketa Tesarova, Tomas Honzik
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- 14 November 2016, pp. 936-944
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Cardiomyopathy is a common manifestation in neonates and infants with mitochondrial disorders. In this study, we report two cases manifesting with fatal mitochondrial hypertrophic cardiomyopathy, which include the third known patient with thymidine kinase 2 deficiency and the ninth patient with alanyl-tRNA synthetase 2 deficiency. The girl with thymidine kinase 2 deficiency had hypertrophic cardiomyopathy together with regression of gross motor development at the age of 13 months. Neurological symptoms and cardiac involvement progressed into severe myopathy, psychomotor arrest, and cardiorespiratory failure at the age of 22 months. The imaging methods and autoptic studies proved that she suffered from unique findings of leucoencephalopathy, severe, mainly cerebellar neuronal degeneration, and hepatic steatosis. The girl with alanyl-tRNA synthetase 2 deficiency presented with cardiac failure and underlying hypertrophic cardiomyopathy within 12 hours of life and subsequently died at 9 weeks of age. Muscle biopsy analyses demonstrated respiratory chain complex I and IV deficiencies, and histological evaluation revealed massive mitochondrial accumulation and cytochrome c oxidase-negative fibres in both cases. Exome sequencing in the first case revealed compound heterozygozity for one novel c.209T>C and one previously published c.416C>T mutation in the TK2 gene, whereas in the second case homozygozity for the previously described mutation c.1774C>T in the AARS2 gene was determined. The thymidine kinase 2 mutations resulted in severe mitochondrial DNA depletion (to 12% of controls) in the muscle. We present, for the first time, severe leucoencephalopathy and hepatic steatosis in a patient with thymidine kinase 2 deficiency and the finding of a ragged red fibre-like image in the muscle biopsy in a patient with alanyl-tRNA synthetase 2 deficiency.
The Nikaidoh procedure for complex transposition of the great arteries: short-term follow-up
- Guillermo Ventosa-Fernández, Carolina Pérez-Negueruela, Javier Mayol, Marina Paradela, José M. Caffarena-Calvar
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- Published online by Cambridge University Press:
- 14 November 2016, pp. 945-950
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Background
The surgical treatment for complex forms of d-transposition of the great arteries associated with ventricular septal defect and left ventricular outflow tract obstruction remains controversial. In this study, we describe the classical surgical options – namely, the Rastelli procedure and the “réparation à l’étage ventriculaire” – and present our experience with the modified Nikaidoh procedure with early and short-term follow-up results.
MethodsBetween 2007 and 2014, four patients with d-transposition of the great arteries associated with ventricular septal defect and left ventricular outflow tract obstruction underwent surgical repair at our institution by means of a modified Nikaidoh procedure.
ResultsWith a mean follow-up of 4.5 years, survival was 100%, and none of the patients required re-intervention or mechanical circulatory support. There was no recurrence of left ventricular outflow tract obstruction and no aortic valve regurgitation classified as more than mild. Left ventricular function was preserved.
ConclusionsAortic translocation with the modified Nikaidoh procedure is a safe and effective surgical treatment for certain complex forms of transposition of the great arteries, particularly those associated with ventricular septal defect and left ventricular outflow tract obstruction. It is associated with less need for re-intervention and better morbidity and mortality results in the short- and mid-term follow-up, when compared with the classical alternatives such as the Rastelli procedure.
A survey of exercise advice and recommendations in United Kingdom paediatric cardiac clinics
- Craig A. Williams, Lucy Gowing, Richard Horn, Alan Graham Stuart
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- Published online by Cambridge University Press:
- 16 January 2017, pp. 951-956
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Background
Physical activity and exercise have important health benefits for children and adolescents with CHD. The objective of this study was to survey the provision of advice and recommendations in United Kingdom paediatric CHD clinics.
MethodsA three-page questionnaire was sent out to paediatric cardiac consultants in the United Kingdom, paediatric consultants with expertise in cardiology, and nursing staff (Paediatricians with Expertise in Cardiology Special Interest Group), as well as all members of the British Congenital Cardiovascular Association. The aim of this questionnaire was to determine the extent and scope of current information provision and to assess the importance that clinicians place on this advice.
ResultsThere were 68 responses in total, and the data showed that, of these, 24 (36%) clinicians had never provided paediatric CHD patients with written advice about exercise. Only 27 (39%) clinicians provided physical activity advice at every appointment. Lack of time during consultation (n=39, 56.9%), lack of training (n=38, 55.2%), and uncertainty about appropriate recommendations (n=38, 55.2%) were identified as the main factors preventing clinicians from providing patients with advice about physical activity.
ConclusionAlthough healthcare providers consider physical activity to be very important, the provision of clear, specific advice and recommendations is underutilised; therefore, more education and provision of resources to support the promotion of exercise need to be provided to clinicians and their support teams.
Corrigendum
A survey of exercise advice and recommendations in United Kingdom paediatric cardiac clinics – CORRIGENDUM
- Craig A. Williams, Lucy Gowing, Richard Horn, Alan Graham Stuart
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- Published online by Cambridge University Press:
- 20 March 2017, p. 957
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Original Articles
Assessment of the need for a cardiac morphology curriculum for paediatric cardiology fellows
- Lindsay S. Rogers, Melissa Klein, Jeanne James, Michael FitzGerald
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- Published online by Cambridge University Press:
- 16 January 2017, pp. 958-966
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Background
Expert knowledge of cardiac malformations is essential for paediatric cardiologists. Current cardiac morphology fellowship teaching format, content, and nomenclature are left up to the discretion of the individual fellowship programmes. We aimed to assess practices and barriers in morphology education, perceived effectiveness of current curricula, and preferences for a standardised fellow morphology curriculum.
MethodsA web-based survey was developed de novo and administered anonymously via e-mail to all paediatric cardiology fellowship programme directors and associate directors in the United States of America; leaders were asked to forward the survey to fellows.
ResultsA total of 35 directors from 32 programmes (51%) and 66 fellows responded. Curriculum formats varied: 28 (88%) programmes utilised pathological specimens, 25 (78%) invited outside faculty, and 16 (50%) utilised external conferences. Director nomenclature preferences were split – 6 (19%) Andersonian, 8 (25%) Van Praaghian, and 18 (56%) mixed. Barriers to morphology education included time and inconsistent nomenclature. One-third of directors reported that <90% of recent fellow graduates had adequate abilities to apply segmental anatomy, identify associated cardiac lesions, or communicate complex CHD. More structured teaching, protected time, and specimens were suggestions to improve curricula. Almost 75% would likely adopt/utilise an online morphology curriculum.
ConclusionsCardiac morphology training varies in content and format among fellowships. Inconsistent nomenclature exists, and inadequate morphology knowledge is perceived to contribute to communication failures, both have potential patient safety implications. There is an educational need for a common, online cardiac morphology curriculum that could allow for fellow assessment of competency and contribute to more standardised communication in the field of paediatric cardiology.