Ferumoxytol, an “off-label” contrast agent, allows for better cardiac MRI quality as compared with gadolinium-based contrast agents. However, hypotension has been reported with the use of ferumoxytol for indications other than cardiac MRI. The purpose of our investigation was to evaluate the safety of ferumoxytol in children undergoing general anaesthesia for cardiac MRI.

Medical records of children undergoing general anaesthesia for cardiac MRI were reviewed. Baseline demographic and medical characteristics, as well as imaging and anaesthetic duration and technique, were collected. The incidence of hypotension or other adverse events’, need for vasoactive support, or airway intervention throughout the anaesthetic, was recorded.

A total of 95 patients were identified, 61 received ferumoxytol and 34 received gadolinium. There were no significant differences between groups with respect to age, weight, or baseline blood pressure. The incidence of low blood pressure – systolic or mean – after contrast administration did not differ between groups, and there was no difference in sustained hypotension or use of vasopressors between groups. One patient who received ferumoxytol had possible anaphylaxis. The image acquisition time (45 versus 68 min, p=0.002) and anaesthesia duration (100 versus 132 min, p=0.02) were shorter in the ferumoxytol group.

Transient low blood pressure was common in children undergoing cardiac MRI with anaesthesia, but the incidence of hypotension did not differ between ferumoxytol and gadolinium groups. The use of ferumoxytol was associated with significantly shorter scan time and anaesthesia duration, as well as a decreased need for airway intervention.

The diagnostic role of cardiac MRI in myocarditis is evolving, however with extremely limited data in paediatrics. The goal of this study was to assess the utility of cardiac MRI in paediatric myocarditis and present a new prognostic score for risk stratification.

The present study is a retrospective investigation of children with a clinical diagnosis of myocarditis, including analysis of demographics, clinical presentation, diagnostic studies, including cardiac MRI, and outcomes.

A total of 44 patients met the inclusion criteria, of whom 20 had undergone cardiac MRI. Patients who underwent cardiac MRI were older (median 15.6 versus 11.1 years, p=0.004), had a shorter length of hospital stay (median 4.0 versus 12.5 days, p=0.004), had overall less-severe illness at presentation as evidenced by a higher left-ventricular ejection fraction on echocardiography, had lower peak brain-type natriuretic peptide, were less likely to require advanced mechanical support, and were less likely to experience cardiac death or transplant. In patients who had undergone cardiac MRI, the most common findings were increased early gadolinium enhancement (n=9) or late gadolinium enhancement (n=9). Cardiac MRI findings did not predict a worse outcome. Independent predictors of the need for heart-failure medications at 1-year follow-up included inotrope requirement, extracorporeal membrane oxygenator requirement, and antiarrhythmic requirement at presentation (p<0.05).

In paediatric myocarditis, cardiac MRI is not used uniformly, has a low yield, and does not predict worse outcomes. Future research should evaluate clinical decision-making and the cost–benefit analysis of cardiac MRI in the diagnosis of paediatric myocarditis.

Anecdotal reports suggest that children and young adults with CHD frequently experience pain in their legs. The purpose of this pilot study, performed by Little Hearts Matter patient organisation, was to assess the burden of leg pains in this group and begin to investigate associated factors and consequences for daily living.

An internet-based survey was distributed by Little Hearts Matter patient organisation. After anonymisation and collation, responses were analysed and compared with their healthy siblings.

Of the 220 patients who responded, 94% reported leg pains compared with 30% of siblings (n=107; p<0.001). In respondents, pain was typically reported to occur in the lower legs or around the knees or ankles, often associated with crying and screaming (49.0%) and most commonly occurring at night-time (82.0%). Individuals taking aspirin and those who were more active were more likely to report leg pains. Older age was associated with leg pain that occurred with stress (p=0.02) and at night (p=0.05). Analgesia (64.1%) or massage (53.9%) was the preferred option for alleviation. There was no gender bias, association with diagnosis, surgical history, and/ or relationship with diagnosed orthopaedic issues.

Leg pains are more frequent in those with CHD compared with their healthy siblings. Aetiology is uncertain, but pains share many common characteristics with benign “growing pains”.

The aim of this study is to determine early changes in cardiac function of children with chronic kidney disease by using 2D-speckle tracking echocardiography.

The study included 38 children – 16 girls and 22 boys – diagnosed as having chronic kidney disease in the nephrology department with a glomerular filtration rate of <90 ml/minute/1.73 m2 for at least 3 months. A total of 37 – 15 girls and 22 boys – age- and sex-matched healthy children were included as the control group. 2D-Speckle tracking echocardiography was performed in all subjects.

The mean age was 13.45±2.8 years in patients and 12.89±3.07 years in controls. Systolic and diastolic blood pressures and left ventricular mass index were significantly higher in patients (p<0.05). The values of mitral e, mitral a, mitral e/a ratio, and mitral deceleration time were not different between the groups. Tricuspid annular plane systolic excursion values were lower in patients (p<0.01). Global strain values in apical long-axis 3-chamber and 2-chamber views were significantly lower in patients (p<0.05). Longitudinal, radial, and circumferential peak systolic strain values were lower in patients, but the difference was statistically significant in all segments of longitudinal view and basal segment of circumferential view (p<0.05). Radial and circumferential systolic strain rates were significantly lower in patients in all three segments (p<0.05). Moreover, early diastolic strain rate was significantly lower in longitudinal and radial apical segments and in all segments of circumferential measurements in patients. Besides, strain rate e/a ratio was significantly lower in all longitudinal segments of patients (p=0.01).

The study concluded that 2D-speckle tracking echocardiography method can determine cardiac involvement earlier than conventional echocardiography in children with chronic kidney disease having preserved ejection fraction.

Pulmonary valve stenosis is common in patients with Noonan’s syndrome. The response to balloon valvoplasty varies.

We assessed the correlation between re-intervention rate, immediate response, and the progress of the valve gradient over time after intervention.

This is a retrospective study conducted from 1995 to 2014.

Of 14 patients identified, seven had re-intervention 28±54 months (range 3–149, median 3.3) after valvoplasty. These patients did not have a significant decrease in gradient after intervention. Their gradient subsequently decreased during follow-up and then became static before increasing years after intervention. In contrast, the gradient of patients not requiring further intervention continually reduced over time. Demographics did not differ between these groups.

We could not identify predisposing factors for long-term success of pulmonary valvoplasty in Noonan’s patients, but the trajectory of gradients differs significantly between patients needing re-intervention from those who remain free from re-intervention.

Few data are available regarding the use of metolazone in infants in cardiac intensive care. Researchers need to carry out further evaluation to characterise the effects of this treatment in this population.

This is a descriptive, retrospective study carried out in patients less than a year old. These infants had received metolazone over a 2-year period in the paediatric cardiac intensive care unit at our institution. The primary goal was to measure the change in urine output from 24 hours before the start of metolazone therapy to 24 hours after. Patient demographic variables, laboratory data, and fluid-balance data were analysed.

The study identified 97 infants with a mean age of 0.32±0.25 years. Their mean weight was 4.9±1.5 kg, and 58% of the participants were male. An overall 63% of them had undergone cardiovascular surgery. The baseline estimated creatinine clearance was 93±37 ml/minute/1.73 m2. Initially, the participants had received a metolazone dose of 0.27±0.10 mg/kg/day, the maximum dose being 0.43 mg/kg/day. They had also received other diuretics during metolazone initiation, such as furosemide (87.6%), spironolactone (58.8%), acetazolamide (11.3%), bumetanide (7.2%), and ethacrynic acid (1%). The median change in urine output after metolazone was 0.9 ml/kg/hour (interquartile range 0.15–1.9). The study categorised a total of 66 patients (68.0%) as responders. Multivariable analysis identified acetazolamide use (p=0.002) and increased fluid input in the 24 hours after metolazone initiation (p<0.001) as being significant for increased urine output. Changes in urine output were not associated with the dose of metolazone (p>0.05).

Metolazone increased urine output in a select group of patients. Efficacy can be maximised by strategic selection of patients.

Anomalous aortic origin of a coronary artery is the second leading cause of sudden cardiac arrest/death in young athletes in the United States of America. Limited data are available regarding family history in this patient population.

Patients were evaluated prospectively from 12/2012 to 02/2017 in the Coronary Anomalies Program at Texas Children’s Hospital. Relevant family history included the presence of CHD, sudden cardiac arrest/death, arrhythmia/pacemaker use, cardiomyopathy, and atherosclerotic coronary artery disease before the age of 50 years. The presence of one or more of these in 1st- or 2nd-degree relatives was considered significant.

Of 168 unrelated probands (171 patients total) included, 36 (21%) had significant family history involving 19 (53%) 1st-degree and 17 (47%) 2nd-degree relatives. Positive family history led to cardiology referral in nine (5%) patients and the presence of abnormal tests/symptoms in the remaining patients. Coronary anomalies in probands with positive family history were anomalous right (27), anomalous left (five), single right coronary artery (two), myocardial bridge (one), and anomalous circumflex coronary artery (one). Conditions present in their family members included sudden cardiac arrest/death (15, 42%), atherosclerotic coronary artery disease (14, 39%), cardiomyopathy (12, 33%), CHD (11, 31%), coronary anomalies (3, 8%), myocardial bridge (1, 3%), long-QT syndrome (2, 6%), and Wolff–Parkinson–White (1, 3%).

In patients with anomalous aortic origin of a coronary artery and/or myocardial bridges, there appears to be familial clustering of cardiac diseases in approximately 20% of patients, half of these with early occurrence of sudden cardiac arrest/death in the family.

Infants with prenatally diagnosed CHD are at high risk for adverse outcomes owing to multiple physiologic and psychosocial factors. Lack of immediate physical postnatal contact because of rapid initiation of medical therapy impairs maternal–infant bonding. On the basis of expected physiology, maternal–infant bonding may be safe for select cardiac diagnoses.

This is a single-centre study to assess safety of maternal–infant bonding in prenatal CHD.

In total, 157 fetuses with prenatally diagnosed CHD were reviewed. On the basis of cardiac diagnosis, 91 fetuses (58%) were prenatally approved for bonding and successfully bonded, 38 fetuses (24%) were prenatally approved but deemed not suitable for bonding at delivery, and 28 (18%) were not prenatally approved to bond. There were no complications attributable to bonding. Those who successfully bonded were larger in weight (3.26 versus 2.6 kg, p<0.001) and at later gestation (39 versus 38 weeks, p<0.001). Those unsuccessful at bonding were more likely to have been delivered via Caesarean section (74 versus 49%, p=0.011) and have additional non-cardiac diagnoses (53 versus 29%, p=0.014). There was no significant difference regarding the need for cardiac intervention before hospital discharge. Infants who bonded had shorter hospital (7 versus 26 days, p=0.02) and ICU lengths of stay (5 versus 23 days, p=0.002) and higher survival (98 versus 76%, p<0.001).

Fetal echocardiography combined with a structured bonding programme can permit mothers and infants with select types of CHD to successfully bond before ICU admission and intervention.

Infantile haemangioma is one of the most commonly known benign vascular tumours of infancy and childhood, having an incidence of 3–10%. Most lesions regress spontaneously; however, some may require treatment owing to their clinical and cosmetic effects. Propranolol has become the treatment of choice for infantile haemangioma, but treatment protocols are largely institutional based without any specific consensus guidelines. Our aim was to evaluate the cost-effectiveness of propranolol use as inpatient versus outpatient therapy.

A decision tree model was created depicting alternate strategies for initiating propranolol treatment on an inpatient versus outpatient basis combined with the option of a pretreatment echocardiogram applied to both strategies. Cost analysis was assumed to be based on treatment of haemangioma in patients who were born at term, had no chronic illnesses, a non-life-threatening location of the haemangioma, and those who were not taking any other medications that could potentiate the side effects of propranolol. A sensitivity analysis was performed to evaluate the probability of side effects.

The average cost incurred for inpatient treatment of infantile haemangioma was approximately $2603 for a single hospital day and increased to $2843 with the addition of an echocardiogram. The expected cost of treatment in the outpatient setting was $138, which increased to $828 after the addition of an echocardiogram.

Treating infantile haemangioma with propranolol is more cost-effective when initiated on an outpatient basis.

We previously reported four heterozygous missense mutations of MYH7, KCNQ1, MYLK2, and TMEM70 in a single three-generation Chinese family with dual Long QT and hypertrophic cardiomyopathy phenotypes for the first time. However, the clinical course among the family members was various, and the potential myocardial dysfunction has not been investigated.

The objective of this study was to investigate the echocardiographic and electrocardiographic characteristics in a genetic positive Chinese family with hypertrophic cardiomyopathy and further to explore the association between myocardial dysfunction and electric activity, and the identified mutations.

A comprehensive echocardiogram – standard two-dimensional Doppler echocardiography and three-dimensional speckle tracking echocardiography – and electrocardiogram were obtained for members in this family.

As previously reported, four missense mutations – MYH7-H1717Q, KCNQ1-R190W, MYLK2-K324E, and TMEM70-I147T – were identified in this family. The MYH7-H1717Q mutation carriers had significantly increased left ventricular mass indices, elevated E/e’ ratio, deteriorated global longitudinal stain, but enhanced global circumferential and radial strain compared with those in non-mutation patients (all p<0.05). The KCNQ1-R190W carriers showed significantly prolonged QTc intervals, and the MYLK2-K324E mutation carriers showed inverted T-waves (both p<0.05). However, the TMEM70-I147T mutation carriers had similar echocardiography and electrocardiographic data as non-mutation patients.

Three of the identified four mutations had potential pathogenic effects in this family: MYH7-H1717Q was associated with increased left ventricular thickness, elevated left ventricular filling pressure, and altered myocardial deformation; KCNQ1-R190W and MYLK2-K324E mutations were correlated with electrocardiographic abnormalities reflected in long QT phenotype and inverted T-waves, respectively.

The aims of this study were to describe radiation level at our institution during transcatheter patent ductus arteriosus occlusion and to evaluate the components contributing to radiation exposure.

Transcatheter occlusion relying on X-ray imaging has become the treatment of choice for patients with patent ductus arteriosus. Interventionists now work hard to minimise radiation exposure in order to reduce risk of induced cancers.

We retrospectively reviewed all consecutive children who underwent transcatheter closure of patent ductus arteriosus from January 2012 to January 2016. Clinical data, anatomical characteristics, and catheterisation procedure parameters were reported. Radiation doses were analysed for the following variables: total air kerma, mGy; dose area product, Gy.cm2; dose area product per body weight, Gy.cm2/kg; and total fluoroscopic time.

A total of 324 patients were included (median age=1.51 [Q1–Q3: 0.62–4.23] years; weight=10.3 [6.7–17.0] kg). In all, 322/324 (99.4%) procedures were successful. The median radiation doses were as follows: total air kerma: 26 (14.5–49.3) mGy; dose area product: 1.01 (0.56–2.24) Gy.cm2; dose area product/kg: 0.106 (0.061–0.185) Gy.cm2/kg; and fluoroscopic time: 2.8 (2–4) min. In multivariate analysis, a weight >10 kg, a ductus arteriosus width <2 mm, complications during the procedure, and a high frame rate (15 frames/second) were risk factors for an increased exposure.

Lower doses of radiation can be achieved with subsequent recommendations: technical improvement, frame rate reduction, avoidance of biplane cineangiograms, use of stored fluoroscopy as much as possible, and limitation of fluoroscopic time. A greater use of echocardiography might even lessen the exposure.

Pallid breath-holding spells are common and dramatic forms of recurrent syncope in infancy. They are very stressful despite their harmless nature and sometimes require treatment.

The objective of this study was to evaluate the efficacy of belladonna in severe breath-holding spells.

This is a multicentric, retrospective series involving 84 children with severe pallid breath-holding spells. Inclusion criteria were >1 pallid breath-holding spell with loss of consciousness, paediatric cardiology evaluation, and follow-up >6 months. In total, 45 patients received belladonna and 39 patients did not receive treatment, according to physician preference.

Mean age was 11 months, ranging from 4 to 18 months, with 54% of males. Mean spell duration was 30 seconds (interquartile range 15, 60), and the frequency was four episodes per month (interquartile range 0.5, 6.5). Comparison of baseline characteristics between groups showed similar demographics, with the single difference in the severity of the spells, being more severe in the treated group. When comparing the treated and non-treated groups at 3 months, only two (5%) patients had a complete remission in the first group, whereas 20 (44%) had remission in the belladonna group (p<0.01). When considering the characteristics of the spells before and after the initiation of treatment with belladonna, 75% of the patients presented a positive response, with 44% of the patients presenting with complete resolution of the spells (p<0.01). No major adverse reaction was reported, with only 5% minor adverse events.

Belladonna is highly effective to alleviate severe breath-holding spells in young children, without any major adverse effects.

The goal of this study was to assess the utility of serial electrocardiograms in routine follow-up of paediatric Marfan patients.

Children ⩽18 years who met the revised Ghent criteria for Marfan syndrome and received a 12-lead electrocardiogram and echocardiogram within a 3-month period were included. Controls were matched by age, body surface area, gender, race, and ethnicity, and consisted of patients assessed in clinic with a normal cardiac evaluation. Demographic, clinical, echocardiographic, and electrocardiographic data were collected.

A total of 45 Marfan patients (10.8 [2.4–17.1] years) and 37 controls (12.8 [1.3–17.1] years) were included. Left atrial enlargement and left ventricular hypertrophy were more frequently present on 12-lead electrocardiogram of Marfan patients compared with controls (12 (27%) versus 0 (0%), p<0.001; and 8 (18%) versus 0 (0%), p=0.008, respectively); however, only two patients with left atrial enlargement on 12-lead electrocardiogram were confirmed to have left atrial enlargement by echocardiogram, and one patient had mild left ventricular hypertrophy by echocardiogram, not appreciated on 12-lead electrocardiogram. QTc interval was longer in Marfan patients compared with controls (427±16 versus 417±22 ms, p=0.03), with four Marfan patients demonstrating borderline prolonged QTc intervals for gender.

While Marfan patients exhibited a higher frequency of left atrial enlargement and left ventricular hypertrophy on 12-lead electrocardiograms compared with controls, these findings were not supported by echocardiography. Serial 12-lead electrocardiograms in routine follow-up of asymptomatic paediatric Marfan patients may be more appropriate for a subgroup of Marfan patients only, specifically those with prolonged QTc interval at their baseline visit.

Dilated Cardiomyopathy is a serious heart disorder that may induce sudden cardiac death and heart failure. Significant progress has been made in understanding the molecular basis of dilated cardiomyopathy. In previous studies, mutations in more than fifty genes have been identified in dilated cardiomyopathy patients. The purpose of this study was to detect the genetic lesion in a family from the central south of China affected by severe dilated cardiomyopathy.

Whole-exome sequencing combined with cardiomyopathy-related genes list were used to analyse the mutations of the proband. Co-segregation analysis was performed by Sanger sequencing.

Two novel heterozygous mutations – Myosin Binding Protein C: p.L1014RfsX6 and Titin: p.R9793X – were identified in the proband. The deletion mutation c.3041delT/p.L1014RfsX6 caused a premature stop codon at position 1020 in exon 28 of the Myosin Binding Protein C. The nonsense mutation, c.29377 C>T/ p. R9793X, of Titin was located in the highly evolutionarily conserved domain, resulting in truncation of the Titin protein as well. Co-segregation analysis further revealed that the Myosin Binding Protein C mutation came from his mother and the Titin mutation came from his father. Both mutations are reported in dilated cardiomyopathy patients for the first time. Our study not only provides a unique example of the genes and molecular mechanisms involved in dilated cardiomyopathy but also expands the spectrum of Myosin Binding Protein C and Titin mutations and contributes to the genetic diagnosis and counselling of dilated cardiomyopathy patients.

One indication for intervention in coarctation of the aorta is a peak-to-peak gradient >20 mmHg. Gradients may be masked in patients under general anaesthesia and may be higher during exercise. Isoproterenol was given during cardiac catheterisation to simulate a more active physiologic state.

We aimed to describe the haemodynamic effects of isoproterenol in patients with coarctation and the impact of intervention on the elicited gradients.

A retrospective study was performed on two-ventricle patients who underwent cardiac catheterisation for coarctation with isoproterenol testing.

25 patients received isoproterenol before and after intervention. With isoproterenol, the mean diastolic (p=0.0015) and mean arterial (p=0.0065) blood pressures proximal to the coarctation decreased significantly. The mean systolic, diastolic, and mean arterial blood pressures distal to the coarctation decreased significantly (p<0.0001). In patients with a baseline gradient ⩽20 mmHg (n=17) at catheterisation, the median gradient increased from 10 (0–20) to 30 (15–50) mmHg (p<0.0001) with isoproterenol. Of these, 15 patients developed a gradient >20 mmHg. Post intervention, the median gradient decreased to 2 (0–29) mmHg, versus baseline, p=0.005, and with isoproterenol it decreased to 8 (0–27) mmHg, versus pre-intervention isoproterenol, p<0.0001. There were significant improvements in the gradients by Doppler (<0.0001) and by blood pressure cuff (p=0.0313). The gradients on isoproterenol best correlated with gradients by blood pressure cuff in the awake state (R2=0.76, p<0.0001).

Isoproterenol can be a useful tool to assess the significance of a coarctation and the effectiveness of an intervention. Percutaneous interventions can effectively reduce the gradients elicited by isoproterenol.