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Marfan syndrome (MFS) is a hereditary connective tissue disorder with an estimated prevalence of 1:5000–1:10 000 individuals. It is a pleiotropic disease characterized by specific ocular, cardiovascular, and skeletal features. The most common cardiovascular complication is aortic root dilatation which untreated can lead to life-threatening aortic root dissection, mainly occurring in adult patients. Prompt diagnosis, appropriate follow-up, and timely treatment can prevent aortic events. Currently there are no specific recommendations for treatment of children with MFS, and management is greatly based on adult guidelines. Furthermore, due to the scarcity of studies including children, there is a lack of uniform treatment across different centres. This consensus document aims at bridging these gaps of knowledge. This work is a joint collaboration between the paediatric subgroup of the European Network of Vascular Diseases (VASCERN, Heritable Thoracic Aortic Disease Working Group) and the Association for European Paediatric and Congenital Cardiology (AEPC). A group of experts from 12 different centres and 8 different countries participated in this effort. This document reviews four main subjects, namely, (i) imaging of the aorta at diagnosis and follow-up, (ii) recommendations on medical treatment, (iii) recommendations on surgical treatment, and (iv) recommendations on sport participation. [ABSTRACT FROM AUTHOR]

Open in new tab Download slide OBJECTIVES There is increasing evidence that performing superior cavopulmonary connection (SCPC) at 3 months reduces mortality: reducing the risky 'interstage' period, volume off-loading the ventricle and reducing coronary steal, hopefully preserving ventricular function. Our objective was to describe our experience of early SCPC with preoperative computer tomography (CT) assessment compared to later connection at 6 months. METHODS Patients undergoing Norwood procedure from 2005 to 2020 were divided into 2 eras were described and compared. Era 1 from 2005 to 2016 when SCPC was undertaken at 6 months: and era 2 (2017–2020) when an earlier operation was performed. Demographics, mortality (interstage, early and late following SCPC) and data on postoperative course and complications were recorded. RESULTS In era 1, 191 patients underwent Norwood (120 survivors to SCPC) and 28 patients (23 survivors) in era 2. There were no significant differences in the demographics. Interstage mortality was 17.8% in era 1 and 8.0% in era 2 but not significantly significant (P  = 0.22). The median (interquartile range) age at pre-imaging and SCPC was significantly lower: 99 (81–120) vs 77 (47–102) days and 175 (117–208) vs 106 (102–122) days in era 1 vs era 2 (P  < 0.005). Weight was lower at SCPC in era 2 [mean (standard deviation) 6.2 kg (1.2) vs 5.1 kg (0.8), P  < 0.05]. Intubation time and total length of stay were not statistically different. Median intensive care unit stay was statistically significantly longer, but not clinically significant: 2.5 (2–4) vs 3 (3–5) days, respectively (P  < 0.05). There was no significant difference in early or late mortality, rates of diagnostic or interventional catheter, postoperative magnetic resonance imaging/CT or stroke. Logistic regression analysis demonstrates increasing age at SCPC was associated with increased chance of stroke or early death (P  = 0.043). CONCLUSIONS Early SCPC with CT assessment is feasible and although intensive care unit length of stay was slightly longer there was no change in the overall length of stay and no change in postoperative mortality or complications. [ABSTRACT FROM AUTHOR]

Aims Following the peak of the UK COVID-19 epidemic, a new multisystem inflammatory condition with significant cardiovascular effects emerged in young people. We utilized multimodality imaging to provide a detailed sequential description of the cardiac involvement. Methods and Results Twenty consecutive patients (mean age 10.6 ± 3.8 years) presenting to our institution underwent serial echocardiographic evaluation on admission (median day 5 of illness), the day coinciding with worst cardiac function (median day 7), and the day of discharge (median day 15). We performed cardiac computed tomography (CT) to assess coronary anatomy (median day 15) and cardiac magnetic resonance imaging (CMR) to assess dysfunction (median day 20). On admission, almost all patients displayed abnormal strain and tissue Doppler indices. Three-dimensional (3D) echocardiographic ejection fraction (EF) was <55% in half of the patients. Valvular regurgitation (75%) and small pericardial effusions (10%) were detected. Serial echocardiography demonstrated that the mean 3D EF deteriorated (54.7 ± 8.3% vs. 46.4 ± 8.6%, P = 0.017) before improving at discharge (P = 0.008). Left main coronary artery (LMCA) dimensions were significantly larger at discharge than at admission (Z score –0.11 ± 0.87 vs. 0.78 ± 1.23, P = 0.007). CT showed uniform coronary artery dilatation commonly affecting the LMCA (9/12). CMR detected abnormal strain in all patients with global dysfunction (EF <55%) in 35%, myocardial oedema in 50%, and subendocardial infarct in 5% (1/20) patients. Conclusions Pancarditis with cardiac dysfunction is common and associated with myocardial oedema. Patients require close monitoring due to coronary artery dilatation and the risk of thrombotic myocardial infarction. [ABSTRACT FROM AUTHOR]

Introduction: Prenatal recognition of dilated aortic root is extremely rare and there are significant challenges in counselling these patients. The primary aim of this case series is to describe the prevalence, associations and outcome of dilated ascending aorta diagnosed during fetal life.Methods: This is a retrospective cohort study from two tertiary fetal cardiology centres. Dilated ascending aorta was defined as gestation-specific standard deviation > 1.96 at some point during gestation.Results: Sixteen infants were live born and underwent postnatal echocardiography. Prenatally suspected bicuspid aortic valve (BAV) (n = 6) was confirmed in 5 cases (83%) postnatally. Thirteen children have been followed up for a period of minimum one year. No connective tissue disease was found.Conclusions: Prenatal dilated ascending aorta is a rare finding (0.06%). It is associated with BAV in 37% of cases and extracardiac abnormalities in 15.7%. Nuchal translucency measurement was >3.5 in 13% of cases. Connective tissue disease was not diagnosed postnatally. This is the largest prenatal cohort with dilated ascending aorta and postnatal outcomes to date. We showed a postnatal persistence of ascending aortic dilatation in 43% of babies. In the absence of extra-cardiac abnormalities, medium term outcome appears good but postnatal surveillance of aortic dilation is required. [ABSTRACT FROM AUTHOR]

Aims: Sudden cardiac death (SCD) is the most common cause of death in children with hypertrophic cardiomyopathy (HCM). The European Society of Cardiology (ESC) recommends consideration of an implantable cardioverter-defibrillator (ICD) if two or more clinical risk factors (RFs) are present, but this approach to risk stratification has not been formally validated.Methods and Results: Four hundred and eleven paediatric HCM patients were assessed for four clinical RFs in accordance with current ESC recommendations: severe left ventricular hypertrophy, unexplained syncope, non-sustained ventricular tachycardia, and family history of SCD. The primary endpoint was a composite outcome of SCD or an equivalent event (aborted cardiac arrest, appropriate ICD therapy, or sustained ventricular tachycardia), defined as a major arrhythmic cardiac event (MACE). Over a follow-up period of 2890 patient years (median 5.5 years), MACE occurred in 21 patients (7.5%) with 0 RFs, 19 (16.8%) with 1 RFs, and 3 (18.8%) with 2 or more RFs. Corresponding incidence rates were 1.13 [95% confidence interval (CI) 0.7-1.73], 2.07 (95% CI 1.25-3.23), and 2.52 (95% CI 0.53-7.35) per 100 patient years at risk. Patients with two or more RFs did not have a higher incidence of MACE (log-rank test P = 0.34), with a positive and negative predictive value of 19% and 90%, respectively. The C-statistic was 0.62 (95% CI 0.52-0.72) at 5 years.Conclusions: The incidence of MACE is higher for patients with increasing numbers of clinical RFs. However, the current ESC guidelines have a low ability to discriminate between high- and low-risk individuals. [ABSTRACT FROM AUTHOR]

Aims Understanding the spectrum of disease, symptom burden and natural history are essential for the management of children with hypertrophic cardiomyopathy (HCM). The effect of changing screening practices over time has not previously been studied. This study describes the clinical characteristics and outcomes of childhood HCM over four decades in a well-characterized United Kingdom cohort. Methods and results Six hundred and eighty-seven patients with HCM presented at a median age of 5.2 years (range 0–16). Aetiology was: non-syndromic (n  = 433, 63%), RASopathy (n  = 126, 18.3%), Friedreich's ataxia (n  = 59, 8.6%) or inborn errors of metabolism (IEM) (n  = 64, 9%). In infants (n  = 159, 23%) underlying aetiology was more commonly a RASopathy (42% vs. 11.2%, P  < 0.0001) or IEM (18.9% vs. 6.4% P  < 0.0001). In those with familial disease, median age of presentation was higher (11 years vs. 6 years, P  < 0.0001), 141 (58%) presented <12 years. Freedom from death or transplantation was 90.6% (87.9–92.7%) at 5 years (1.5 per 100 patient years) with no era effect. Mortality was most frequently sudden cardiac death (SCD) (n  = 20, 2.9%). Children diagnosed during infancy or with an IEM had a worse prognosis (5-year survival 80.5% or 66.4%). Arrhythmic events occurred at a rate of 1.2 per 100 patient years and were more likely in non-syndromic patients (n  = 51, 88%). Conclusion This national study describes a heterogeneous disease whose outcomes depend on the age of presentation and aetiology. Overall mortality and SCD rates have not changed over time, but they remain higher than in adults with HCM, with events occurring in syndromic and non-syndromic patients. View large Download slide View large Download slide [ABSTRACT FROM AUTHOR]

Inborn errors of metabolism ( IEM) are responsible for around 5% of all cases of cardiomyopathy ( CM) and for 15% of non-idiopathic cases. Storage disorders such as Pompe disease (glycogen storage disease type II) typically cause hypertrophic CM, whereas the accumulation of toxic metabolites, as seen in the organic acidurias, is associated with dilated cardiomyopathy ( DCM). Mixed pathology is also possible, particularly in late presentations. IEM such as Barth syndrome, a disorder of cardiolipin stability usually associated with DCM, have been associated with rarer types of CM such as endocardial fibroelastosis and left ventricular non-compaction. Conduction disturbances can also occur, particularly in disorders of glycogen metabolism associated with PRKAG2 mutations. Cardiac screening of patients with metabolic diseases is important to guide treatment and stratify risk. Supportive cardiac treatment may be required, and although associated myocardial disease may improve or even resolve with correction of the underlying metabolic disturbance, progression to cardiac transplantation has been described. In this article we document all IEM known to be associated with cardiac disease in children, focusing on common and clinically important diagnoses. We also discuss the pathophysiology of the various types of CM, and present a recommended approach to screening in the pediatric population. [ABSTRACT FROM AUTHOR]

Background: The purpose of this study was to see how coronary magnetic resonance angiography (CMRA) compared to echocardiography for the detection of coronary artery origins and to compare CMRA measurements for coronary dimensions in children with published echocardiographic reference values. Methods: Enrolled patients underwent dual cardiac phase CMRA and echocardiography under the same anesthetic. Echocardiographic measurements of the right coronary artery (RCA), left anterior descending (LAD) and left main (LM) were made. CMRA dimensions were assessed manually at the same points as the echocardiographic measurements. The number of proximal LAD branches imaged was also recorded in order to give an estimate of distal coronary tree visualization. Results: Fifty patients (24 boys, mean age 4.0 years (range 18 days to 18 years)) underwent dual-phase CMRA. Coronary origins were identified in 47/50 cases for CMRA (remaining 3 were infants aged 3, 9 and 11 months). In comparison, origins were identified in 41/50 cases for echo (remaining were all older children). CMRA performed better than echocardiography in terms of distal visualization of the coronary tree (median 1 LAD branch vs. median 0; p = 0.001). Bland-Altman plots show poor agreement between echocardiography and CMRA for coronary measurements. CMRA measurements did vary according to cardiac phase (systolic mean 1.90, s.d. 0.05 mm vs. diastolic mean 1.84, s.d. 0.05 mm; p = 0.002). Conclusions: Dual-phase CMRA has an excellent (94 %) success rate for the detection of coronary origins in children. Newborn infants remain challenging and echocardiography remains the accepted imaging modality for this age group. Echocardiographic reference ranges are not applicable to CMRA measurements as agreement was poor between modalities. Future coronary reference values, using any imaging modality, should quote the phase in which it was measured. [ABSTRACT FROM AUTHOR]

Background CMRA in pediatrics remains challenging due to the smaller vessel size, high heart rates (HR), potential image degradation caused by limited patient cooperation and long acquisition times. High-relaxivity contrast agents have been shown to improve coronary imaging in adults, but limited data is available in children. We sought to investigate whether gadobenate dimeglumine (Gd-BOPTA) together with self-navigated inversion-prepared coronary magnetic resonance angiography (CMRA) sequence design improves coronary image quality in pediatric patients. Methods Forty consecutive patients (mean age 6 ± 2.8 years; 73% males) were prospectively recruited for a 1.5-T MRI study under general anesthesia. Two electrocardiographic-triggered free breathing steady-state free precession (SSFP) angiography sequences (A and B) with isotropic spatial resolution (1.3 mm 3 ) were acquired using a recently developed image-based self-navigation technique. Sequence A was acquired prior to contrast administration using T2 magnetization preparation (T2prep). Sequence B was acquired 5–8 min after a bolus of Gd-BOPTA with the T2prep replaced by an inversion recovery (IR) pulse to null the signal from the myocardium. Scan time, signal-to noise and contrast-to-noise ratios (SNR and CNR), vessel wall sharpness (VWS) and qualitative visual score for each sequence were compared. Results Scan time was similar for both sequences (5.3 ± 1.8 vs 5.2 ± 1.5 min, p = .532) and average heart rate (78 ± 14.7 vs 78 ± 14.5 bpm, p = .443) remained constant throughout both acquisitions. Sequence B resulted in higher SNR (12.6 ± 4.4 vs 31.1 ± 7.4, p < .001) and CNR (9.0 ± 1.8 vs 13.5 ± 3.7, p < .001) and provided improved coronary visualization in all coronary territories (VWS A = 0.53 ± 0.07 vs B = 0.56 ± 0.07, p = .001; and visual scoring A = 3.8 ± 0.59 vs B = 4.1 ± 0.53, p < .001). The number of non-diagnostic coronary segments was lower for sequence B [A = 42 (13.1%) segments vs B = 33 (10.3%) segments; p = .002], and contrary to the pre-contrast sequence, never involved a proximal segment. These results were independent of the patients' age, body surface area and HR. Conclusions The use of Gd-BOPTA with a 3D IR SSFP CMRA sequence results in improved coronary visualization in small infants and young children with high HR within a clinically acceptable scan time. [ABSTRACT FROM AUTHOR]