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After congenital heart surgery, some patients may need long-term mechanical ventilation because of chronic respiratory failure. In this study, we analysed outcomes of the patients who need tracheostomy and home mechanical ventilation.
Methods:
Amongst 1343 patients who underwent congenital heart surgery between January, 2014 and June, 2018, 45 needed tracheostomy and HMV. The median age of these patients was 6.4 months (12 days–6.5 years). Nineteen patients underwent palliation while 26 patients underwent total repair. Post-operative diaphragm plication was performed in five patients (11%). Median duration of mechanical ventilation before tracheostomy was 32 days (8–154 days). The patients were followed up with their home ventilators in ward and at home. Mean follow-up time was 36.24 ± 11.61 months.
Results:
The median duration of ICU stay after tracheostomy was 27 days (range 2–93 days). Follow-up time in ward was median 30 days (2–156 days). A total of 12 patients (26.6%) were separated from the ventilator and underwent decannulation during hospital stay. Thirty-two patients (71.1%) were discharged home with home ventilator support. Of them, 15 patients (46.9%) were separated from the respiratory support in median of 6 weeks (1 week–11 months) and decannulations were performed. Total mortality was 31.1%. in which four patients are still HMV dependent. There was no significant difference for decannulation between total repair and palliation patients.
Conclusion:
HMV via tracheostomy is a useful option for the treatment of children who are dependent on long-term ventilation after congenital heart surgery although there are potential risks.
Pulmonary hypertension is a rare and complex disease with poor prognosis. Paediatric cases are infrequent and usually associated with congenital heart disease. Management is problematical due to the limited therapy available and poor evidence of efficacy. Recently a new medication, selexipag (UptraviR), a prostacyclin receptor agonist, has been approved for the treatment of pulmonary artery hypertension in adults. We report our experience using selexipag in four paediatric patients with pulmonary hypertension associated with congenital heart disease.
Left ventricular assist devices enable recovery from severe heart failure and serve as a bridge to heart transplantation. However, chronic mechanical unloading can impair myocardial recovery. We aimed to assess myocyte size, fibrosis, apoptosis, and β-adrenoreceptor levels after rats with left ventricle unloading induced by heterotopic heart transplantation were administered carvedilol and metoprolol.
Methods:
Thirty rats with heart transplants were divided randomly into control, carvedilol treatment, and metoprolol treatment groups. Follow-up was conducted after 2 and 4 weeks of unloading.
Results:
Carvedilol and metoprolol treatments did not prevent the decrease in myocyte diameter in unloaded left ventricles. Metoprolol significantly decreased the ratio of the fibrotic area in the unloaded heart, measured using Masson’s trichrome staining after 2 weeks. However, carvedilol and metoprolol did not reduce apoptosis, based on measurements of terminal deoxynucleotidyl-transferase-mediated dUTP nick end-labelling positive cells and the expression of caspase-3 in unloaded hearts after 2 and 4 weeks. Metoprolol treatment did not significantly decrease the mRNA expression of myocardial SERCA2a in the unloaded heart after 2 weeks.
Conclusions:
Compared to carvedilol treatment, metoprolol treatment improved myocardial fibrosis and SERCA2a expression to a greater extent; however, neither drug prevented myocardial apoptosis.
Alveolar capillary dysplasia with misalignment of the pulmonary veins is an uncommon disorder that affects the lung vasculature development in the neonatal period and leads to pulmonary hypertension. We describe two patients with alveolar capillary dysplasia associated with left-sided obstructive heart defects with two different genetic variants. Our cases highlight the importance of early recognition of this disease in the setting of persistent and supra-systemic pulmonary hypertension despite surgical correction of the associated lesions. Identification of these cases will facilitate the development of a multidisciplinary approach and provide guidance to the affected families.
Atrial fibrillation is one of the most common arrhythmias in the adult population, in children, however, only a few case reports of isolated atrial fibrillation exist.1 Aside from post-operative AF due to atrial scar formation or suture lines and atrial enlargement in CHD (e.g., mitral stenosis), alcohol consumption represents a rare cause of AF in adolescents. We report on the latter.
To compare the genetic testing results of neonates with CHD by chromosomal microarray to karyotyping and fluorescence in situ hybridisation analysis.
Methods:
This was a single-centre retrospective comparative study of patients with CHD and available genetic testing results admitted to the cardiac ICU between January, 2004 and December, 2017. Patients from 2004 to 2010 were tested by karyotyping and fluorescence in situ hybridisation analysis, while patients from 2012 to 2017 were analysed by chromosomal microarray.
Results:
Eight-hundred and forty-nine neonates with CHD underwent genetic testing, 482 by karyotyping and fluorescence in situ hybridization, and 367 by chromosomal microarray. In the karyotyping and fluorescence in situ hybridisation analysis group, 86/482 (17.8%) had genetic abnormalities detected, while in the chromosomal microarray group, 135/367 (36.8%) had genetic abnormalities detected (p < 0.00001). Of patients with abnormal chromosomal microarray results, 41/135 (30.4%) had genetic abnormality associated with neurodevelopmental disorders that were exclusively identified by chromosomal microarray. Conotruncal abnormalities were the most common diagnosis in both groups, with karyotyping and fluorescence in situ hybridisation analysis detecting genetic abnormalities in 26/160 (16.3%) patients and chromosomal microarray detecting abnormalities in 41/135 (30.4%) patients (p = 0.004). In patients with d-transposition of the great arteries, 0/68 (0%) were found to have genetic abnormalities by karyotyping and fluorescence in situ hybridisation compared to 7/54 (13.0%) by chromosomal microarray.
Conclusions:
Chromosomal microarray identified patients with CHD at genetic risk of neurodevelopmental disorders, allowing earlier intervention with multidisciplinary care and more accurate pre-surgical prognostic counselling.
Milrinone is a phosphodiesterase type 3 inhibitor that results in a positive inotropic effect in the heart through an increase in cyclic adenosine monophosphate. The purpose of this study was to evaluate circulating cyclic adenosine monophosphate and milrinone concentrations in milrinone treated paediatric patients undergoing congenital heart surgery.
Methods:
Single-centre prospective observational pilot study from January 2015 to December 2017 including children aged birth to 18 years. Milrinone and circulating cyclic adenosine monophosphate concentrations were measured at four time points through the first post-operative day and compared between patients with and without low cardiac output syndrome, defined using clinical and laboratory criteria.
Results:
Fifty patients were included. Nine (18%) developed low cardiac output syndrome. For all patients, 22% had single ventricle heart disease. The density and distribution of cyclic adenosine monophosphate concentrations varied between those with and without low cardiac output syndrome but were not significantly different. Milrinone concentrations increased in all patients. Paired t-tests demonstrated an increase in circulating cyclic adenosine monophosphate concentrations during the post-operative period among patients without low cardiac output syndrome.
Conclusions:
In this prospective observational study, circulating cyclic adenosine monophosphate concentrations increased in those without low cardiac output syndrome during the first 24 post-operative hours and milrinone concentrations increased in all patients. Further study of the utility of cyclic adenosine monophosphate concentrations in milrinone treated patients is necessary.
We sought to examine the influence of clinically severe lower respiratory tract infection on pulmonary artery pressure in children having CHD with post-tricuspid left-to-right shunt, as it may have physiological and clinical implications. In a prospective single-centre observational study, 45 children with post-tricuspid left-to-right shunt and clinically severe lower respiratory tract infection were evaluated during the illness and 2 weeks after its resolution. Pulmonary artery systolic pressure was estimated non-invasively using shunt gradient by echocardiography and systolic blood pressure measured non-invasively.
Median pulmonary artery systolic pressure during lower respiratory tract infection was only mildly (although statistically significantly) elevated during lower respiratory tract infection [60 (42–74) versus 53 (40–73) mmHg, (p < 0.0001)]. However, clinically significant change in pulmonary artery systolic pressure defined as the increase of >10 mmHg was present in only 9 (20%) patients. In the absence of hypoxia or acidosis, only a small minority (9%, n = 4) showed significant pulmonary artery systolic pressure rise >10 mmHg. In the absence of hypoxia or acidosis, severe lower respiratory tract infection in patients with acyanotic CHD results in only mild elevation of pulmonary artery systolic pressure in most of the patients.
Single-nucleotide polymorphisms in miRNA-machinery genes may alter the biogenesis of miRNAs affecting disease susceptibility. In this case–control study, we aimed to evaluate the impact of three single-nucleotide polymorphisms (DICER rs1057035, DROSHA rs10719, and XPO5 rs11077) and their combined effect in a genetic risk score model on congenital heart disease (CHD) risk. A total of 639 participants was recruited, including 125 patients with CHD (65 males; age 9.2 ± 10 years) and 514 healthy controls (289 males; age 15.8 ± 18 years). Genotyping of polymorphisms in miRNA-machinery genes was performed using a TaqMan®SNP genotyping assay. A genetic risk score was calculated by summing the number of risk alleles of selected single-nucleotide polymorphisms. There was a significantly increased risk of CHD in patients with XPO5 rs11077 CC genotype as compared to AC heterozygote and AA homozygote patients (ORadjusted = 1.7; 95% CI: 1.1–2.8; p = 0.018). A clear tendency to significance was also found for DROSHA rs10719 AA genotype and CHD risk for both codominant and recessive models (ORadjusted = 1.8; 95% CI: 0.91–3.8; p = 0.09 and ORadjusted = 1.9; 95% CI: 0.92–4; p = 0.08, respectively). The resulting genetic risk score predicted a 1.73 risk for CHD per risk allele (95% CI: 1.2–2.5; p = 0.002). Subjects in the top tertile of genetic risk score were estimated to have more than three-fold increased risk of CHD compared with those in the bottom tertile (ORadjusted = 3.52; 95% CI: 1.4–9; p = 0.009). Our findings show that the genetic variants in miRNA-machinery genes might participate in the development of CHD.
The COVID-19 pandemic has had a huge influence in almost all areas of life, affecting societies, economics, and health care systems worldwide. The paediatric cardiology community is no exception. As the challenging battle with COVID-19 continues, professionals from the Association for the European Paediatric and Congenital Cardiology receive many questions regarding COVID-19 in a Paediatric and Congenital Cardiology setting. The aim of this paper is to present the AEPC position on frequently asked questions based on the most recent scientific data, as well as to frame a discussion on how to take care of our patients during this unprecedented crisis. As the times are changing quickly and information regarding COVID-19 is very dynamic, continuous collection of evidence will help guide constructive decision-making.
Vincent van Gogh (1853–1890) is one of the most famous artists in the world. During his 10-year career as an artist, he created more than 850 paintings. These works of art are now displayed in museums around the globe. It is therefore even more surprising that van Gogh sold just one painting during his lifetime. Van Gogh is also well-known for his mental illness. In 1888, at the age of 35, he famously sliced off his left ear. This was followed by multiple mental collapses in early 1889, leading to his admission to a mental hospital. Despite living in the asylum, van Gogh continued to paint and created some of his most beautiful works of art during the year at Saint-Rémy. Tragically, he committed suicide in 1890 at the age of 37. Over the 130 years since his death, there has been much speculation about the underlying illness of Vincent van Gogh. Many of his contemporary physicians felt that he had a form of epilepsy as the cause of his sudden “attacks”. By the last quarter of the 19th century, science and medicine were moving rapidly forward, and there were many medical conditions that had effective treatments. One example is the use of digoxin for the treatment of heart failure, and another is the discovery of potassium bromide for seizures. This paper provides an overview of van Gogh’s mental illness, the treatments that were offered by his contemporaneous physicians, and the role that these factors may have influenced his paintings.
Congenital ductus arteriosus aneurysms develop in the third trimester of fetal life, possibly due to abnormal intimal cushion formation or elastin expression in the ductal wall. It is often diagnosed in infants before 2 months of age. Most have a benign course and resolve spontaneously. However, life-threatening complications have been reported. We report a case of large ductal aneurysm diagnosed incidentally in a neonate, in whom there was a novel mutation in the smooth muscle myosin protein gene—MYH11.
A Japanese female infant with trisomy 18 was diagnosed with hypoplastic left heart syndrome variant. She was administered oral prostaglandin E1 every 6 hours through a feeding tube as an alternative drug for lipo-prostaglandin E1. Oral prostaglandin E1 was effective for maintenance of the ductus arteriosus and may serve as a palliative treatment approach.
We report a rare association of interstitial deletion of 5p15.2-p13.3 with situs inversus, dextrocardia, L-loop of the ventricles, and transposition of great arteries: [I, L, L] Transposition of Great Arteries. We did not find such an association reported in the medical literature.
We present a young soldier presenting with aborted sudden cardiac death, who was found to have concomitant hypertrophic cardiomyopathy and Wolff–Parkinson–White syndrome. Along with pathological haemodynamic features of hypertrophic cardiomyopathy, an easily-inducible re-entrant tachycardia was clearly documented in our patient. Given the fatal potential of supraventricular tachycardia in hypertrophic cardiomyopathy, we postulated that his tachyarrhythmia could potentially trigger the event. Upon his refusal to receive implantable cardioverter/defibrillator therapy, we ablated anatomical arrhythmogenic substrate instead, and he remained uneventfully over 3 years on β-blocker.
Kleefstra syndrome (chromosome 9q34.3 deletion) is a rare genetic disorder with less than 110 patients reported till date. We report a 4-month-old Caucasian girl with Kleefstra syndrome and Shone’s complex, an association which has not been previously reported. Surgical planning for patients with Kleefstra syndrome and complex CHD can pose challenges due to an uncertain natural history and a risk of post-operative pulmonary hypertension.
We report a 3-year-old boy with giant and atypical coronary artery aneurysms in the acute phase of Kawasaki disease, despite appropriate therapeutic intervention, in Noonan syndrome with a novel heterozygous PTPN11 mutation, c. 907 G>A (p.Asp303Asn). We hypothesised that this PTPN11 mutation might affect both hyperinflammation caused by Kawasaki disease and vascular fragility in the coronary artery, resulting in coronary artery aneurysms.