Non-invasive algorithm for bowel motility estimation using a back-propagation neural network model of bowel sounds

Background

Although cardiac auscultation remains important to detect abnormal sounds and murmurs indicative of cardiac pathology, the application of electronic methods remains seldom used in everyday clinical practice. In this report we provide preliminary data showing how the phonocardiogram can be analyzed using color spectrographic techniques and discuss how such information may be of future value for noninvasive cardiac monitoring.

Methods

We digitally recorded the phonocardiogram using a high-speed USB interface and the program Gold Wave http://www.goldwave.com in 55 infants and adults with cardiac structural disease as well as from normal individuals and individuals with innocent murmurs. Color spectrographic analysis of the signal was performed using Spectrogram (Version 16) as a well as custom MATLAB code.

Results

Our preliminary data is presented as a series of seven cases.

Conclusions

We expect the application of spectrographic techniques to phonocardiography to grow substantially as ongoing research demonstrates its utility in various clinical settings. Our evaluation of a simple, low-cost phonocardiographic recording and analysis system to assist in determining the characteristic features of heart murmurs shows promise in helping distinguish innocent systolic murmurs from pathological murmurs in children and is expected to useful in other clinical settings as well.     

The optimization of the diagnostic work-up in patients with suspected obstructive lung disease

Background

Liver dysfunction reflects the status of heart failure, with congestion and low perfusion of the liver serving as causative mechanisms. Previous studies demonstrated relationship between the results of liver function test and the prognosis in patients with heart failure. However, few studies have examined this relationship in patients with pulmonary arterial hypertension (PAH).

Methods

The subjects were 37 patients with PAH (8 men and 29 women; 18 with idiopathic PAH and 19 with connective tissue disease-associated PAH). A blood test was performed after a 3-month period free from hospitalization and without changes in functional class, treatment, heart sounds, body weight, or heart rate.

Results

In a mean follow-up period of 635 ± 510 days, 12 patients died due to heart failure, 2 died due to pulmonary hemorrhage, and 23 patients survived. Cox proportional hazard analyses identified functional class (p < 0.001), plasma concentration of brain natriuretic peptide (BNP) (p = 0.001), and hyperbilirubinemia (serum total bilirubin > 1.2 mg/dL; p < 0.001; hazard ratio = 13.31) as predictors of mortality. Patients with hyperbilirubinemia had a worse functional class (P = 0.003), a higher right atrial pressure (p < 0.001), a higher plasma concentration of BNP (p = 0.004), and a larger Doppler right ventricular index of the right ventricle (p = 0.041).

Conclusion

Elevated serum bilirubin is a risk factor for death in patients with PAH.     

A new 2D-based method for myocardial velocity strain and strain rate quantification in a normal adult and paediatric population: assessment of reference values

Background

Cardiac time intervals have been described as a measure of cardiac performance, where prolongation, shortening and delay of the different time intervals have been evaluated as markers of cardiac dysfunction. A relatively recently developed method with improved ability to measure cardiac events is Tissue Doppler Imaging (TDI), allowing accurate measurement of myocardial movements.

Methods

We propose the state diagram of the heart as a new visualization tool for cardiac time intervals, presenting comparative, normalized data of systolic and diastolic performance, providing a more complete overview of cardiac function. This study aimed to test the feasibility of the state diagram method by presenting examples demonstrating its potential use in the clinical setting and by performing a clinical study, which included a comparison of the state diagram method with established echocardiography methods (E/E' ratio, LVEF and WMSI). The population in the clinical study consisted of seven patients with non ST-elevation myocardial infarction (NSTEMI) and seven control subjects, individually matched according to age and gender. The state diagram of the heart was generated from TDI curves from seven positions in the myocardium, visualizing the inter- and intraventricular function of the heart by displaying the cardiac phases.

Results

The clinical examples demonstrated that the state diagram allows for an intuitive visualization of pathological patterns as ischemia and dyssynchrony. Further, significant differences in percentage duration between the control group and the NSTEMI group were found in eight of the totally twenty phases (10 phases for each ventricle), e.g. in the transition phases (Pre-Ejection and Post-Ejection). These phases were significantly longer (> 2.18%) for the NSTEMI group than for the control group (p < 0.05). No significant differences between the groups were found for the established echocardiography methods.

Conclusion

The test results clearly indicate that the state diagram has potential to be an efficient tool for visualization of cardiac dysfunction and for detection of NSTEMI.     

Recognizing brain activities by functional near-infrared spectroscope signal analysis

Background

Noninvasive recording of movements caused by the heartbeat and the blood circulation is known as ballistocardiography. Several studies have shown the capability of a force plate to detect cardiac activity in the human body. The aim of this paper is to present a new method based on differential geometry of curves to handle multivariate time series obtained by ballistocardiographic force plate measurements.

Results

We show that the recoils of the body caused by cardiac motion and blood circulation provide a noninvasive method of displaying the motions of the heart muscle and the propagation of the pulse wave along the aorta and its branches. The results are compared with the data obtained invasively during a cardiac catheterization. We show that the described noninvasive method is able to determine the moment of a particular heart movement or the time when the pulse wave reaches certain morphological structure.

Conclusions

Monitoring of heart movements and pulse wave propagation may be used e.g. to estimate the aortic pulse wave velocity, which is widely accepted as an index of aortic stiffness with the application of predicting risk of heart disease in individuals. More extended analysis of the method is however needed to assess its possible clinical application.     

The impact of a 6-year comprehensive community trial on the awareness, treatment and control rates of hypertension in Iran: experiences from the Isfahan healthy heart program

Background

Acute mental stress may contribute to the cardiovascular disease progression via autonomic nervous system controlled negative effects on the endothelium. The joint effects of stress-induced sympathetic or parasympathetic activity and endothelial function on atherosclerosis development have not been investigated. The present study aims to examine the interactive effect of acute mental stress-induced cardiac reactivity/recovery and endothelial function on the prevalence of carotid atherosclerosis.

Methods

Participants were 81 healthy young adults aged 24-39 years. Preclinical atherosclerosis was assessed by carotid intima-media thickness (IMT) and endothelial function was measured as flow-mediated dilatation (FMD) using ultrasound techniques. We also measured heart rate, respiratory sinus arrhythmia (RSA), and pre-ejection period (PEP) in response to the mental arithmetic and speech tasks.

Results

We found a significant interaction of FMD and cardiac RSA recovery for IMT (p = 0.037), and a significant interaction of FMD and PEP recovery for IMT (p = 0.006). Among participants with low FMD, slower PEP recovery was related to higher IMT. Among individuals with high FMD, slow RSA recovery predicted higher IMT. No significant interactions of FMD and cardiac reactivity for IMT were found.

Conclusions

Cardiac recovery plays a role in atherosclerosis development in persons with high and low FMD. The role of sympathetically mediated cardiac activity seems to be more important in those with impaired FMD, and parasympathetically mediated in those with relatively high FMD. The development of endothelial dysfunction may be one possible mechanism linking slow cardiac recovery and atherosclerosis via autonomic nervous system mediated effect.     

Venous pseudo-aneurysm as a late complication of short-term central venous catheterisation

Background

Adrenocortical carcinoma is a rare, highly malignant tumor. Cardiac involvement of the tumor is very rare. Echocardiography facilitates the evaluation of the cardiac involvement of the tumor.

Case Presentation

We describe a patient with an adrenal tumor. Transthoracic echo showed its extension into the right atrium. Accordingly, a combined abdominal and cardiac operation was performed, monitored by transesophageal echocardiography.

Conclusion

This case highlights the importance of echocardiography in revealing the cardiac involvement by this tumor and in planning the operative procedure.     

Failure of epicardial pacing leads in congenital heart disease: not uncommon and difficult to predict

Aims

We evaluate the incidence of epicardial lead failure and try to identify risk factors in patients with congenital heart disease.

Methods

All patients with a congenital heart defect and an epicardial pacing system, implanted within a timeframe of 25 years, were included in this study. Patients’ medical records and lead data were reviewed. Lead failure was defined as the primary endpoint.

Results

In total 198 active epicardial leads (atrial 40, ventricular 158) were implanted in 93 patients (median age at implantation 4.4 years (range 0–58.6)). During a total follow-up of 1235 lead-years, 29 lead failures (14.6%, 4 atrial, 25 ventricular) were documented in 22 patients (23.7%). Lead failure occurred at a median time period of 4.8 years (range 1.2–24.1) after implantation. Five-year freedom of lead failure was 88%. The only independent predictor for lead failure was the age at implantation (HR 0.44; 95%CI 0.20–0.97, p?=?0.04), other characteristics failed to predict lead failure. Sudden cardiac death occurred in four patients (4.3%), in one a lead failure was documented.

Conclusion

A high incidence of epicardial lead failures is found in patients with congenital heart disease. Unfortunately, it is difficult to predict this potentially life-threatening complication.     

Sinus versus nonsinus tachycardia in the emergency department: Importance of age and heart rate

Background

The emergency department diagnosis of sinus versus nonsinus tachycardia is an important clinical challenge. The objective of this study was to identify subjects with a high prevalence of nonsinus tachycardia.

Methods

Heart rate and cardiac rhythm were prospective reviewed in 500 consecutive patients with heart rate ≥ 100 beats/min in a busy emergency department. A predictive model based on age and heart rate was then developed to identify the probability of nonsinus tachycardia.

Results

As age and heart rate increased, nonsinus tachycardias became more frequent. The probability of nonsinus tachycardia in a subject ≥ 71 years with heart rate ≥ 141 beats/minute was 93%, compared to only three percent in a subject ≤ 50 years with heart rate 100–120 beats/minute. A simple point score system based on age and heart rate helps predict the probability of sinus tachycardia versus nonsinus tachycardia.

Conclusion

Nonsinus tachycardia is significantly more common than sinus tachycardia in elderly patients in the emergency department. The diagnosis of sinus tachycardia becomes much less likely as age and heart rate increase.     

Ovariectomy and overeating palatable, energy-dense food increase subcutaneous adipose tissue more than intra-abdominal adipose tissue in rats

Background

Men are at an increased risk of dying from heart failure caused by inflammatory heart diseases such as atherosclerosis, myocarditis and dilated cardiomyopathy (DCM). We previously showed that macrophages in the spleen are phenotypically distinct in male compared to female mice at 12 h after infection. This innate immune profile mirrors and predicts the cardiac immune response during acute myocarditis.

Methods

In order to study sex differences in the innate immune response, five male and female BALB/c mice were infected intraperitoneally with coxsackievirus B3 (CVB3) or phosphate buffered saline and their spleens were harvested 12 h later for microarray analysis. Gene expression was determined using an Affymetrix Mouse Gene 1.0 ST Array. Significant gene changes were verified by quantitative real-time polymerase chain reaction or ELISA.

Results

During the innate immune response to CVB3 infection, infected males had higher splenic expression of genes which are important in regulating the influx of cholesterol into macrophages, such as phospholipase A₂ (PLA₂) and the macrophage scavenger receptor compared to the infected females. We also observed a higher expression in infected males compared to infected females of squalene synthase, an enzyme used to generate cholesterol within cells, and Cyp2e1, an enzyme important in metabolizing cholesterol and steroids. Infected males also had decreased levels of the translocator protein 18 kDa (TSPO), which binds PLA₂ and is the rate-limiting step for steroidogenesis, as well as decreased expression of the androgen receptor (AR), which indicates receptor activation. Gene differences were not due to increased viral replication, which was unaltered between sexes.

Conclusions

We found that, compared to females, male mice had a greater splenic expression of genes which are important for cholesterol metabolism and activation of the AR at 12 h after infection. Activation of the AR has been linked to increased cardiac hypertrophy, atherosclerosis, myocarditis/DCM and heart failure in male mice and humans.     

Bench and mathematical modeling of the effects of breathing a helium/oxygen mixture on expiratory time constants in the presence of heterogeneous airway obstructions

Background

Vectorcardiogram (VCG) signals monitor both spatial and temporal cardiac electrical activities along three orthogonal planes of the body. However, the absence of spatiotemporal resolution in conventional VCG representations is a major impediment for medical interpretation and clinical usage of VCG. This is especially so because time-domain features of 12-lead ECG, instead of both spatial and temporal characteristics of VCG, are widely used for the automatic assessment of cardiac pathological patterns.

Materials and methods

We present a novel representation approach that captures critical spatiotemporal heart dynamics by displaying the real time motion of VCG cardiac vectors in a 3D space. Such a dynamic display can also be realized with only one lead ECG signal (e.g., ambulatory ECG) through an alternative lag-reconstructed ECG representation from nonlinear dynamics principles. Furthermore, the trajectories are color coded with additional dynamical properties of space-time VCG signals, e.g., the curvature, speed, octant and phase angles to enhance the information visibility.

Results

In this investigation, spatiotemporal VCG signal representation is used to characterize various spatiotemporal pathological patterns for healthy control (HC), myocardial infarction (MI), atrial fibrillation (AF) and bundle branch block (BBB). The proposed color coding scheme revealed that the spatial locations of the peak of T waves are in the Octant 6 for the majority (i.e., 74 out of 80) of healthy recordings in the PhysioNet PTB database. In contrast, the peak of T waves from 31.79% (117/368) of MI subjects are found to remain in Octant 6 and the rest (68.21%) spread over all other octants. The spatiotemporal VCG signal representation is shown to capture the same important heart characteristics as the 12-lead ECG plots and more.

Conclusions

Spatiotemporal VCG signal representation is shown to facilitate the characterization of space-time cardiac pathological patterns and enhance the automatic assessment of cardiovascular diseases.     

Reference intervals for the echocardiographic measurements of the right heart in children and adolescents: a systematic review

Background

Transthoracic echocardiography is the primary imaging modality for the diagnosis of right ventricular (RV) involvement in congenital and acquired heart diseases. There is increasing recognition of the contribution of RV dysfunction in heart diseases affecting children and adolescents, but there is insufficient information on reference intervals for the echocardiographic measurements of the right heart in children and adolescents that represent all the continental populations of the world.

Objective

The aim of this systematic review was to collate, from published studies, normative data for echocardiographic evaluation of the right heart in children and adolescents, and to identify gaps in knowledge in this field especially with respect to sub-Saharan Africans.

Methods

We performed a systematic literature search to identify studies of reference intervals for right heart measurements as determined by transthoracic echocardiography in healthy children and adolescents of school-going age. Articles were retrieved from electronic databases with a combination of search terms from the earliest date available until May 2013.

Results

Reference data were available for a broad range of variables. Fifty one studies out of 3096 publications were included. The sample sizes of the reference populations ranged from 13 to 2036 with ages varying from 5 to 21 years. We identified areas lacking sufficient reference data. These included reference data for determining right atrial size, tricuspid valve area, RV dimensions and areas, the RV % fractional area change, pulmonary artery pressure gradients and the right-sided haemodynamics, including the inferior vena cava dimensions and collapsibility. There were no data for sub-Saharan African children and adolescents.

Conclusion

Reliable reference data are lacking for important echocardiographic measurements of the RV in children and adolescents, especially for sub-Saharan Africans.     

Genome-scale identification of Caenorhabditis elegans regulatory elements by tiling-array mapping of DNase I hypersensitive sites

Background

High throughput techniques have generated a huge set of biological data, which are deposited in various databases. Efficient exploitation of these databases is often hampered by a lack of appropriate tools, which allow easy and reliable identification of genes that miss functional characterization but are correlated with specific biological conditions (e.g. organotypic expression).

Results

We have developed a simple algorithm (DGSA = Database-dependent Gene Selection and Analysis) to identify genes with unknown functions involved in organ development concentrating on the heart. Using our approach, we identified a large number of yet uncharacterized genes, which are expressed during heart development. An initial functional characterization of genes by loss-of-function analysis employing morpholino injections into zebrafish embryos disclosed severe developmental defects indicating a decisive function of selected genes for developmental processes.

Conclusion

We conclude that DGSA is a versatile tool for database mining allowing efficient selection of uncharacterized genes for functional analysis.     

Direct haemodynamic effects of pulmonary arteriovenous malformation embolisation

Background

Transcatheter embolisation is widely used to close pulmonary arteriovenous malformations (PAVMs) in patients with hereditary haemorrhagic telangiectasia (HHT). Data on the direct cardiovascular haemodynamic changes induced by this treatment are scarce.

Objectives

We investigated the direct haemodynamic effects of transcatheter embolisation of PAVMs, using non-invasive finger pressure measurements.

Methods

During the procedure, blood pressure, heart rate (HR), stroke volume (SV), cardiac output (CO), total peripheral resistance (TPR) and delta pressure/delta time (dP/dt) were continuously monitored using a Finometer®. Potential changes in these haemodynamic parameters were calculated from the pressure registrations using Modelflow® methodology. Absolute and relative changes were calculated and compared using the paired sample t-test.

Results

The present study includes 29 HHT patients (mean age 39?±?15 years, 11 men) who underwent transcatheter embolotherapy of PAVMs. The total number of embolisations was 72 (mean per patient 2.5). Directly after PAVM closure, SV and CO decreased significantly by ?11.9 % (p?=?0.01) and ?9.5 % (p?=?0.01) respectively, without a significant change in HR (1.8 %). Mean arterial blood pressure increased by 4.1 % (p?=?0.02), while the TPR and dP/dt did not increase significantly (5.8 % and 0.2 %, respectively).

Conclusions

Significant haemodynamic changes occur directly after transcatheter embolisation of PAVMs, amongst which a decrease in stroke volume and cardiac output are most important.     

Rationale and design of EXPLORE: a randomized, prospective, multicenter trial investigating the impact of recanalization of a chronic total occlusion on left ventricular function in patients after primary percutaneous coronary intervention for acute ST-elevation myocardial infarction

Background

Hypothyroidism is a prevalent endocrine condition. Individuals with this disease are commonly managed through supplementation with synthetic thyroid hormone, with the aim of alleviating symptoms and restoring normal thyroid stimulating hormone levels. Generally this management strategy is effective and well tolerated. However, there is research to suggest that a significant proportion of hypothyroid sufferers are being inadequately managed. Furthermore, hypothyroid patients are more likely to have a decreased sense of well-being and more commonly experience constitutional and neuropsychiatric complaints, even with pharmacological intervention. The current management of hypothyroidism follows a biomedical model. Little consideration has been given to a biopsychosocial approach to this condition. Within the chiropractic profession there is growing support for the use of a biopsychosocial-based intervention called Neuro-Emotional Technique (NET) for this population.

Methods/Design

A placebo-controlled, single-blinded, randomised clinical pilot-trial has been designed to assess the influence of Neuro-Emotional Technique on a population with primary overt hypothyroidism. A sample of 102 adults (≥18 years) who meet the inclusion criteria will be randomised to either a treatment group or a placebo group. Each group will receive ten treatments (NET or placebo) over a six week period, and will be monitored for six months. The primary outcome will involve the measurement of depression using the Depression, Anxiety and Stress Scale (DASS). The secondary outcome measures to be used are; serum thyroid stimulating hormone, serum free-thyroxine, serum free-triiodothyronine, serum thyroid peroxidase auto-antibodies, serum thyroglobulin auto-antibodies as well as the measurement of functional health and well-being using the Short-Form-36 Version 2. The emotional states of anxiety and stress will be measured using the DASS. Self-measurement of basal heart rate and basal temperature will also be included among the secondary outcome measures. The primary and secondary measures will be obtained at commencement, six weeks and six months. Measures of basal heart rate and basal temperature will be obtained daily for the six month trial period, with recording to commence one week prior to the intervention.

Discussion

The study will provide information on the influence of NET when added to existing management regimens in individuals with primary overt hypothyroidism.

Trial Registration

ANZCTR Number: 12607000040460     

Allocation in life cycle inventory: partial set of solutions to an ill-posed problem

Background, aim, and scope

The primary aim of this paper is to indicate that partitioning allocation methods yields only a small subset of solutions to an ill-posed problem that has potentially infinitely many exact solutions. It will be shown that each of the existing partitioning methods arrives at just one particular solution from among infinitely many solutions of an underdetermined system of linear equations.

Materials and methods

Some life cycle inventories fall into a class of functions called estimable functions in linear model framework, in which case they are invariant to allocation assumptions. This class of functions unites results described by Heijungs and Frischknecht (Int J Life Cycle Assess 3:321–332, 1998) and Heijungs and Suh (2002, Conjecture 1, p. 91). The inventories for non-estimable functions obtained through allocation are, in fact, derived under a set of additional implicit equality constraints called side conditions, often resulting in inventory results which differ greatly from one allocation to the next.

Results and discussions

This paper explicates (1) identification of all estimable functions from any given technology matrix and (2) recovery of side conditions imposed on non-estimable functions through partitioning. These methods are illustrated in a simple example, and their relation to least squares techniques for allocation explored by Marvuglia et al. (Int J Life Cycle Assess 15:1020–1040, 2010) ;(Int J Agr Environ Inf Syst 3:51–71, 2012) are discussed.

Conclusions and outlook

Recommendations are made that may lead to more meaningful ways to obtain additional data or include additional information in life cycle inventories in the future.     

ENerGetIcs in hypertrophic cardiomyopathy: traNslation between MRI, PET and cardiac myofilament function (ENGINE study)

Introduction

Hypertrophic cardiomyopathy (HCM) is an autosomal dominant heart disease mostly due to mutations in genes encoding sarcomeric proteins. HCM is characterised by asymmetric hypertrophy of the left ventricle (LV) in the absence of another cardiac or systemic disease. At present it lacks specific treatment to prevent or reverse cardiac dysfunction and hypertrophy in mutation carriers and HCM patients. Previous studies have indicated that sarcomere mutations increase energetic costs of cardiac contraction and cause myocardial dysfunction and hypertrophy. By using a translational approach, we aim to determine to what extent disturbances of myocardial energy metabolism underlie disease progression in HCM.

Methods

Hypertrophic obstructive cardiomyopathy (HOCM) patients and aortic valve stenosis (AVS) patients will undergo a positron emission tomography (PET) with acetate and cardiovascular magnetic resonance imaging (CMR) with tissue tagging before and 4 months after myectomy surgery or aortic valve replacement + septal biopsy. Myectomy tissue or septal biopsy will be used to determine efficiency of sarcomere contraction in-vitro, and results will be compared with in-vivo cardiac performance. Healthy subjects and non-hypertrophic HCM mutation carriers will serve as a control group.

Endpoints

Our study will reveal whether perturbations in cardiac energetics deteriorate during disease progression in HCM and whether these changes are attributed to cardiac remodelling or the presence of a sarcomere mutation per se. In-vitro studies in hypertrophied cardiac muscle from HOCM and AVS patients will establish whether sarcomere mutations increase ATP consumption of sarcomeres in human myocardium. Our follow-up imaging study in HOCM and AVS patients will reveal whether impaired cardiac energetics are restored by cardiac surgery.     

Multiscale Hy3S: Hybrid stochastic simulation for supercomputers

Background

DNA copy number alterations are one of the main characteristics of the cancer cell karyotype and can contribute to the complex phenotype of these cells. These alterations can lead to gains in cellular oncogenes as well as losses in tumor suppressor genes and can span small intervals as well as involve entire chromosomes. The ability to accurately detect these changes is central to understanding how they impact the biology of the cell.

Results

We describe a novel algorithm called CARAT (Copy Number Analysis with Regression And Tree) that uses probe intensity information to infer copy number in an allele-specific manner from high density DNA oligonuceotide arrays designed to genotype over 100, 000 SNPs. Total and allele-specific copy number estimations using CARAT are independently evaluated for a subset of SNPs using quantitative PCR and allelic TaqMan reactions with several human breast cancer cell lines. The sensitivity and specificity of the algorithm are characterized using DNA samples containing differing numbers of X chromosomes as well as a test set of normal individuals. Results from the algorithm show a high degree of agreement with results from independent verification methods.

Conclusion

Overall, CARAT automatically detects regions with copy number variations and assigns a significance score to each alteration as well as generating allele-specific output. When coupled with SNP genotype calls from the same array, CARAT provides additional detail into the structure of genome wide alterations that can contribute to allelic imbalance.     

A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report

Background

A case series of the cardiac magnetic resonance imaging findings in seven adult Alström patients.

Methods

Seven patients from the National Specialist Commissioning Group Centre for Alström Disease, Torbay, England, UK, completed the cardiac magnetic resonance imaging protocol to assess cardiac structure and function in Alström cardiomyopathy.

Results

All patients had some degree of left and right ventricular dysfunction. Patchy mid wall gadolinium delayed enhancement was demonstrated, suggesting an underlying fibrotic process. Some degree of cardiomyopathy was universal. No evidence of myocardial infarction or fatty infiltration was demonstrated, but coronary artery disease cannot be completely excluded. Repeat scanning after 18 months in one subject showed progression of fibrosis and decreased left ventricular function.

Conclusion

Adult Alström cardiomyopathy appears to be a fibrotic process causing impairment of both ventricles. Serial cardiac magnetic resonance scanning has helped clarify the underlying disease progression and responses to treatment. Confirmation of significant mutations in the ALMS1 gene should lead to advice to screen the subject for cardiomyopathy, and metabolic disorders.     

Improving surgical outcome following the Norwood procedure

Background

The Norwood procedure consists of three palliative operations, performed in neonates with hypoplastic left heart syndrome. Especially the first stage (Norwood I) is associated with the highest mortality rates in paediatric cardiac surgery (up to 25%). During surgery, the aorta is reconstructed and a systemic-to-pulmonary shunt is applied. Originally the modified Blalock-Taussig shunt was used, but recently the right-ventricle-to-pulmonary-artery shunt is increasingly being employed. We reviewed the results of our operative strategy, where an individualised choice of shunt is made. Furthermore, attempts to reduce interstage mortality (between Norwood I and II) were assessed.

Methods

All neonates who underwent Norwood stage I palliation from August 2004 until November 2010 were included in this retrospective analysis. Mortality rates and management strategies were compared.

Results

Thirty-six patients were available for analysis. Overall 30-day mortality was 5.6% (2 patients) and interstage mortality after discharge was 14% (5 patients). In 2006, a novel clinical protocol was introduced, aimed at reduction of mortality during the interstage period. This resulted in reduction of interstage mortality from 23% to 9% (3 of 13 infants, versus 2 of 23), with a cumulative survival of 82% (maximum follow-up 4 years).

Conclusion

Early surgical results following the Norwood procedure using an individualised shunt choice are favourable.