Effect of age on exercise capacity and cardiac reserve in patients with pulmonary atresia with intact ventricular septum after biventricular repair

OBJECTIVESIn patients with pulmonary atresia with intact ventricular septum (PAIVS), biventricular repair is considered to be the optimal treatment option in the absence of significant right ventricular (RV) hypoplasia. However, long-term clinical outcome studies are limited. We evaluated exercise capacity and cardiac function during pharmacological stress in children and young adults with PAIVS after biventricular repair.METHODSTen PAIVS patients after biventricular repair, with a median age of 12 years (range 9-42 years), underwent a cardiopulmonary exercise test, dobutamine stress magnetic resonance imaging (DS-MRI) and delayed contrast enhancement (DCE) MRI.RESULTSThe patients' ages negatively correlated with exercise capacity (r = -0.72, P = 0.01) as well as left (LV) and RV stroke volume (SV) response to pharmacological stress (r = -0.72, P = 0.02; and r = -0.64, P = 0.04; respectively), Furthermore, older age was associated with decreased RV E/A volume ratio and increased pulmonary late diastolic forward flow percentage (r = 0-0.65, P = 0.04, r = 0.66, P = 0.03, respectively). RV E/A volume ratio positively correlated with RV-SV response to DS-MRI (r = 0.77, P = 0.009). and O(2)-pulse during physical stress correlated with biventricular SV response to DS-MRI. No RV or LV ventricular myocardial fibrosis was detected.CONCLUSIONSIn PAIVS patients after biventricular repair exercise capacity and cardiac reserve decrease with age. These findings appear to be related to impaired diastolic RV function and decreased RV filling, indicating that the function of the relatively small RV deteriorates with tim

Isolated unilateral absence of a pulmonary artery: a case report and review of the literature

OBJECTIVE: The purpose of the present study was to determine the symptomatology, diagnostic procedures, and therapeutic strategies of patients with an isolated unilateral absence of a pulmonary artery (UAPA). BACKGROUND: Isolated UAPA is a rare anomaly. Some case reports exist, but the best diagnostic and therapeutic approaches to these patients remain unclear. METHODS: A retrospective analysis was made of 108 cases reported between 1978 and 2000. The database of the National Library of Medicine (MEDLINE) was used to identify cases that were published in any language from 1978 onward. RESULTS: Of the 108 patients identified, 14 were asymptomatic. The median age was 14 years (range, 0.1 to 58 years). Most patients had symptoms such as frequent pulmonary infections (37%), dyspnea or limited exercise tolerance (40%), or hemoptysis (20%). Pulmonary hypertension was present in 44% of the patients. Surgical procedures were performed in 17% of patients, and the overall mortality rate was 7%. CONCLUSION: Only a few patients with isolated UAPA remain asymptomatic during follow-up. The diagnosis can be made by chest radiograph, echocardiography, CT scan, and MRI. Hilar arteries can be shown by cardiac catheterization and pulmonary venous wedge angiography. This is important since revascularization may improve pulmonary hypertension. The avoidance of high altitudes and pregnancy may further improve outcomes

Indications and management of implantable cardioverter-defibrillator therapy in childhood hypertrophic cardiomyopathy

Sudden cardiac death is the most common mode of death during childhood and adolescence in hypertrophic cardiomyopathy, and identifying those individuals at highest risk is a major aspect of clinical care. The mainstay of preventative therapy is the implantable cardioverter-defibrillator, which has been shown to be effective at terminating malignant ventricular arrhythmias in children with hypertrophic cardiomyopathy but can be associated with substantial morbidity. Accurate identification of those children at highest risk who would benefit most from implantable cardioverter-defibrillator implantation while minimising the risk of complications is, therefore, essential. This position statement, on behalf of the Association for European Paediatric and Congenital Cardiology (AEPC), reviews the currently available data on established and proposed risk factors for sudden cardiac death in childhood-onset hypertrophic cardiomyopathy and current approaches for risk stratification in this population. It also provides guidance on identification of individuals at risk of sudden cardiac death and optimal management of implantable cardioverter-defibrillators in children and adolescents with hypertrophic cardiomyopathy

The Role of the Epinephrine Test in the Diagnosis and Management of Children Suspected of Having Congenital Long QT Syndrome

The epinephrine test has been shown to be a powerful tool to predict the genotype of congenital long QT syndrome (LQTS). The aim of this study was to evaluate its role in the diagnosis and management of LQTS in children. The test (using the Shimizu protocol) was conducted in patients with some evidence of LQTS but in whom clinical and management decisions were challenging (n = 41, age 9.6 ± 3.9 years, 19 female). LQT1, LQT2, and negative responses to epinephrine were obtained in 16, 5, and 20 subjects, respectively. LQTS gene positivity was obtained in two subjects. Beta-blocker therapy was started in all subjects with a positive epinephrine response (n = 21) and in some negative responders because of their strong LQTS phenotype (n = 10). No therapy was given to the subset with less convincing features of LQTS who had also responded negatively to epinephrine (n = 10). Follow-up for 3.0 ± 2 years was uneventful in both management groups. Due to the discordance with genotyping, the epinephrine test cannot be used to diagnose genotype-positive LQTS but when used in combination with phenotype assessment and genetic screening, it could enable better management decisions

Automatic Posture and Movement Tracking of Infants with Wearable Movement Sensors

Infants' spontaneous and voluntary movements mirror developmental integrity of brain networks since they require coordinated activation of multiple sites in the central nervous system. Accordingly, early detection of infants with atypical motor development holds promise for recognizing those infants who are at risk for a wide range of neurodevelopmental disorders (e.g., cerebral palsy, autism spectrum disorders). Previously, novel wearable technology has shown promise for offering efficient, scalable and automated methods for movement assessment in adults. Here, we describe the development of an infant wearable, a multi-sensor smart jumpsuit that allows mobile accelerometer and gyroscope data collection during movements. Using this suit, we first recorded play sessions of 22 typically developing infants of approximately 7 months of age. These data were manually annotated for infant posture and movement based on video recordings of the sessions, and using a novel annotation scheme specifically designed to assess the overall movement pattern of infants in the given age group. A machine learning algorithm, based on deep convolutional neural networks (CNNs) was then trained for automatic detection of posture and movement classes using the data and annotations. Our experiments show that the setup can be used for quantitative tracking of infant movement activities with a human equivalent accuracy, i.e., it meets the human inter-rater agreement levels in infant posture and movement classification. We also quantify the ambiguity of human observers in analyzing infant movements, and propose a method for utilizing this uncertainty for performance improvements in training of the automated classifier. Comparison of different sensor configurations also shows that four-limb recording leads to the best performance in posture and movement classification.Peer reviewe