Lukas A. Rammeloo

Prevalence of congenital heart defects and persistent pulmonary hypertension of the neonate with Down syndrome

The aim of this study was to assess the prevalence of congenital heart defects (CHDs) and persistent pulmonary hypertension of the neonate (PPHN) in children with Down syndrome (DS) and to assess its impact on neonatal factors. It was a prospective study of a birth cohort of children with DS born between 2003 and 2006 registered by the Dutch Paediatric Surveillance Unit (DPSU). A CHD occurred in 43% of 482 children with trisomy 21. Atrioventricular septal defect was found in 54%, ventricular septal defect in 33.3% and patent ductus arteriosus in 5.8%. The incidence of PPHN in DS was 5.2%, which is significantly higher than the general population (pu2009<u20090.001). The reported mortality in newborns with DS was overall 3.3% and was still significant higher in children with a CHD versus no CHD (5.8% versus 1.5%) (pu2009=u20090.008). The presence of CHD in children with DS had no influence on their birth weight, mean gestational age and Apgar score. In neonates with DS, we found not only a 43% prevalence of CHD, but also a high incidence of PPHN at 5.2%. Early recognition of the cardiac condition of neonates with DS seems justified.

The diagnostic and therapeutic aspects of loss-of-function cardiac sodium channelopathies in children.

BACKGROUNDnLoss-of-function sodium channelopathies manifest as a spectrum of diseases including Brugada syndrome (BrS) and cardiac conduction disease.nnnOBJECTIVEnTo analyze the diagnostic and therapeutic aspects of these disorders in children.nnnMETHODSnPatients aged ≤ 16 years with genetically confirmed loss-of-function sodium channelopathies (SCN5A mutation), presenting with cardiac symptoms, positive family history, and/or abnormal electrocardiogram (ECG), were included. Abnormal ECG consisted of type 1 BrS ECG and/or prolonged conduction intervals (PR interval/QRS duration > 98th percentile for age).nnnRESULTSnAmong the cohort (n = 33, age 6 ± 5 years, 58% male subjects, 30% probands), 14 (42%) patients were symptomatic, presenting with syncope (n = 5), palpitations (n = 1), supraventricular arrhythmias (n = 3), aborted cardiac arrest (n = 3), and sudden cardiac death (n = 2). Heart rate was 91 ± 26 beats/min, PR interval 168 ± 35 ms, QRS duration 112 ± 20 ms, and heart-rate corrected QT interval 409 ± 26 ms. Conduction intervals were prolonged in 28 (85%) patients; 6 of these patients also had spontaneous type 1 BrS ECG. Eight fever-associated events occurred in 6 patients; 2 of these were vaccination-related fever episodes. Treatment included aggressive antipyretics during fever in all patients; antiarrhythmic treatment included implantable cardioverter-defibrillator (n = 4), pacemaker (n = 2), and beta-blockers, either alone (n = 3) or in combination with device (n = 2). During follow-up (4 ± 4 years), 2 previously symptomatic patients had monomorphic ventricular tachycardia; there were no deaths.nnnCONCLUSIONSnDiagnosis of loss-of-function sodium channelopathies in children relies on cardiac symptoms, family history, and ECG. Fever and vaccination are potential arrhythmia triggers; conduction delay is the commonest finding on ECG. Beta-blockers have a role in preventing tachycardia-induced arrhythmias; implantable cardioverter-defibrillator should probably be reserved for severe cases.

Fluorinated steroids do not improve outcome of isolated atrioventricular block

INTRODUCTIONnCongenital atrioventricular block (CAVB) is a rare disorder with a significant morbidity and mortality. Consensus regarding the prescription and efficacy of prenatal corticosteroids is lacking. This nationwide study was initiated to evaluate the effects of prenatal treatment with corticosteroids on the outcome of CAVB in The Netherlands.nnnMETHODSnAll fetuses identified with isolated congenital AVB-II° or AVB-III° in any of the eight academic fetal heart centers of The Netherlands between 2003 and 2013 were included and reviewed.nnnRESULTSnFifty-six fetuses were included. Fourteen (25%) fetuses were treated with dexamethasone. We found no differences between the steroid-treated and untreated cases regarding in utero progression of the AVB (63% vs 67% respectively), survival to birth (86% vs 84%), pacemaker implantations (74% vs 58%) or long-term dilated cardiomyopathy (13% vs 17%). Steroid treated fetuses demonstrated more in utero growth restriction (38% vs 11%).nnnCONCLUSIONnNo benefit from prenatal corticosteroid treatment was demonstrated for fetuses with isolated CAVB in this study. However, we found negative side effects. Our data provide no evidence to support the routine administration of corticosteroids for the treatment of fetal CAVB.

Double aortic arch with double aneuploidy—rare anomaly in combined Down and Klinefelter syndrome

A 14-month-old boy with double aneuploidy and a double aortic arch suffered from frequently recurrent severe feeding and respiratory problems. Chromosomal analysis showed a 48,XXY + 21 karyotype: a double aneuploidy of Down syndrome (DS) and Klinefelter syndrome (KS). Only four cases of double aneuploidy (DS + KS) associated with congenital heart defects have been published of which none had a double aortic arch. Our case report should draw attention to the possibility of a double aortic arch in patients with severe feeding and respiratory problems and a double aneuploidy.

Clinical significance of a persistent left superior vena cava

We agree that the possibility of internal standardization within the image with the calculation of fractional moving blood volume is of great interest and may in future allow us to obtain an accurate index of organ perfusion3. Moreover, the recent reported experiences on the human fetus are based on the manual acquisition of several 2D sections onto which the power Doppler image is superimposed4. This approach still presents several limitations, including the difficulty in identifying the same anatomical plane for imaging, the hemodynamic changes that may occur with changes in cardiac cycles and fetal behavior during the time required to obtain the different 2D sections, and the lack of standardized and commercially available software for such analysis. With all due respect to the fine work of Dr Welsh and other groups3,4, we found their approach difficult to apply in clinical practice. We are therefore inclined to continue following our technique until internal standardizing methods become available.

Ruptured aneurysm of the right coronary sinus of Valsalva in a child with Down syndrome.

Aneurysms of one of the aortic sinuses of Valsalva are rare congenital or acquired lesions. Here we present the case of an adolescent with Down syndrome with ruptured aneurysm of the right coronary sinus into the right atrium. All sinuses of Valsalva were normal during cardiological screening owing to Down syndrome at the age of 2 weeks. Paediatricians should have a low threshold for referring patients with Down syndrome for cardiac re-evaluation because of the new onset of cardiac symptoms or cardiac physical findings, even in the situation in which there are normal echocardiographic findings in the past.

Impact of prenatal diagnosis of ductal origin of the left pulmonary artery

A 25-year-old healthy primigravida, who had a consanguineous partner, was referred for fetal echocardiography at the 22nd week of gestation. Based on an abnormal three-vessel view at the 20weeks anomaly scan in a first-level center, a non-specified congenital heart defect was suspected. First-trimester prenatal screening (nuchal translucency measurement) was not performed. The family history was negative for congenital heart defects. Echocardiography revealed visceroatrial situs solitus with normal systemic and pulmonary venous connections and normal intracardiac anatomy. The ascending aorta had a normal size (3.7mm), however, a right aortic arch (RAA) was present. A left patent ductus arteriosus (PDA) was running from the brachiocephalic artery connecting end-to-end with the left pulmonary artery (LPA) (Figure 1a and b). The usual pulmonary arterial bifurcation was not present. The main PA had a normal size (4.8mm) and continued into the right PA (RPA), but was not connected to the LPA (Figure 2). A right-sided PDA connected the right RPA with the RAA. Amniocentesis for karyotyping and analysis of 22q11 deletion was offered but declined by the parents. Follow-up scans supported the suspected diagnosis. At 37 + 3weeks, a boy of 3760 g was born after an uncomplicated delivery. The physical examination and arterial oxygen saturation were normal. Echocardiography confirmed the diagnosis of non-confluent pulmonary arteries, distal ductal origin of the LPA from the long left-sided PDA running from the brachiocephalic artery, and a RAA with a right-sided PDA. Genetic testing did not disclose any abnormalities; among others, a possible 22q11 microdeletion was excluded. On day 3, echocardiography demonstrated constriction of both right-sided and left-sided PDA. To prevent occlusion of the LPA, prostaglandin E1 infusion was started, leading to reopening of both PDAs. With the intention to postpone the surgical reconstruction of the pulmonary bifurcation, stenting of the left PDA (Stent PRO-Kinetic 3.0 × 15mm.) was performed. The right-sided PDA closed spontaneously several days later. A successful surgical reconstruction of the PA bifurcation has been performed at the age of 5months. Distal ductal origin of one or both pulmonary arteries is an uncommon congenital cardiovascular anomaly. This condition is associated with many types of congenital heart disease. The most frequent associations are with tetralogy of Fallot, tetralogy with absent pulmonary valve syndrome, pulmonary atresia and ventricular septal defect, or visceroatrial heterotaxia. Rarely isolated non-confluent pulmonary arteries have been described. Sotomora and Edwards were the first to describe the patency of a PA in a series of autopsies on deceased patients presumed to have one absent PA by echocardiography or angiography. Later, it was postulated that flow disturbance in the early embryo could be the cause of regression of the proximal right or left sixth aortic arch, resulting in ductal origin of the RPA or LPA, respectively. Apostolopoulou et al. found evidence for this theory by depicting the progressive cessation of antegrade blood flow to the absent PA due to closure of the ductus arteriosus in the first days after birth. Closure of the arterial duct isolates the ipsilateral PA and lung, often causing significant morbidity. This condition, after closure of the duct, is also described as unilateral absence of the pulmonary artery. In a review of the literature, 108 patients with unilateral absence of the PA without associated cardiac anomalies were described. The median age of these patients at presentation was 14 years, 12% were infants <1 year of age. Fourteen patients were asymptomatic, but most patients presented with symptoms like chest pain, pleural effusion, recurrent pulmonary infections, dyspnea, exercise

Small atrial septal defect associated with heart failure in an infant with a marginal left ventricle

Atrial septal defect (ASD) is usually asymptomatic in infancy, unless pulmonary hypertension or severe co-morbidity is present. We report a case of a 4-week-old infant with moderate-sized ASD, small patent ductus arteriosus (PDA), and a borderline sized left ventricle that developed heart failure. Despite the relatively small diameter of the ASD, this defect influenced the mechanism of heart failure significantly. After surgical closure of both PDA and ASD, the signs of pulmonary hypertension resolved and the patient developed a normal sized left ventricle. This report illustrates that the presence of a small ASD in combination with a marginal left ventricle may result in inadequate left ventricular filling, pulmonary hypertension and heart failure.

Negative delayed-enhancement magnetic resonance imaging of the heart suggests a diagnosis of neonatal transient myocardial ischaemia

We report a term neonate presenting after birth with shock and cyanosis for which he was intubated. Echocardiography showed no contractions of the left ventricle. Systemic circulation was provided by the right ventricle via shunting through the arterial duct. Left ventricular dysfunction was confirmed by electrocardiography and increased troponin T levels. Hemodynamics quickly improved, and the child could be weaned of the ventilator without residual problems. We concluded that the patient suffered from transient myocardial ischaemia. At 3u2003weeks of life, we performed delayed‐enhancement magnetic resonance imaging (DE‐MRI) of the heart which did not show signs of permanent macroscopic damage of the myocardium.

Transient electrocardiographic abnormalities following blunt chest trauma in a child

Blunt cardiac injury may occur in patients after suffering nonpenetrating trauma of the chest. It encompasses a wide spectrum of cardiac injury with varied severity and clinical presentation. Electrocardiographic abnormalities are frequently encountered. This article presents a case of a child who presented with complete right bundle branch block on the initial ECG at the emergency department. She suffered blunt chest trauma during a horseback riding accident. She was admitted for cardiac monitoring. The electrocardiographic abnormalities resolved within 12xa0hours. No signs of myocardial injury were found on repeat serum troponin measurement and echocardiography. The natural history of ECG abnormalities in the pediatric age group following blunt chest trauma is limited. Although a complete right bundle branch block may be transient in adult patients, this has not been previously reported in a children. Significant ECG abnormalities can be encountered in children following blunt chest trauma. Although a complete RBBB can be associated with severe injury to the RV, it can also occur with minor injury.