Analysis Of Congenital Heart Disease Research Articles

Development of a national dataset for geospatial analysis of congenital heart disease

Development of a national dataset for geospatial analysis of congenital heart disease

Impact of ferumoxytol vs gadolinium on 4D flow cardiovascular magnetic resonance measurements in small children with congenital heart disease

BackgroundCardiovascular magnetic resonance (CMR) allows for time-resolved three-dimensional phase-contrast (4D Flow) analysis of congenital heart disease (CHD). Higher spatial resolution in small infants requires thinner slices, which can degrade the signal. Particularly in infants, the choice of contrast agent (ferumoxytol vs. gadolinium) may influence 4D Flow CMR accuracy. Thus, we investigated the accuracy of 4D Flow CMR measurements compared to gold standard 2D flow phase contrast (PC) measurements in ferumoxytol vs. gadolinium-enhanced CMR of small CHD patients with shunt lesions.MethodsThis was a retrospective study consisting of CMR studies from complex CHD patients less than 20 kg who had ferumoxytol or gadolinium-enhanced 4D Flow and standard two-dimensional phase contrast (2D-PC) flow collected. 4D Flow clinical software (Arterys) was used to measure flow in great vessels, systemic veins, and pulmonary veins. 4D Flow accuracy was defined as percent difference or correlation against conventional measurements (2D-PC) from the same vessels. Subgroup analysis was performed on two-ventricular vs single-ventricular CHD, arterial vs venous flow, as well as low flows (defined as < 1.5 L/min) in 1V CHD.ResultsTwenty-one ferumoxytol-enhanced and 23 gadolinium-enhanced CMR studies were included, with no difference in age (2.1 ± 1.6 vs. 2.3 ± 1.9 years, p = 0.70), patient body surface area (0.50 ± 0.2 vs. 0.52 ± 0.2 m2, p = 0.67), or vessel diameter (11.4 ± 5.2 vs. 12.4 ± 5.6 mm, p = 0.22). Ten CMR studies with single ventricular CHD were included. Overall, ferumoxytol-enhanced 4D flow CMR measurements demonstrated less percent difference to 2D-PC when compared to gadolinium-enhanced 4D Flow CMR studies. In subgroup analyses of arterial vs. venous flows (high velocity vs. low velocity) and low flow in single ventricle CHD, ferumoxytol-enhanced 4D Flow CMR measurements had stronger correlation to 2D-PC CMR. The contrast-to-noise ratio (CNR) in ferumoxytol-enhanced studies was higher than the CNR in gadolinium-enhanced studies.ConclusionsFerumoxytol-enhanced 4D Flow CMR has improved accuracy when compared to gadolinium 4D Flow CMR, particularly for infants with small vessels in CHD.

Abstract 10071: Improved Accuracy of 4D Flow with Ferumoxytol in Comparison to Gadolinium Contrast for Small Children with Congenital Heart Disease

Introduction: Cardiac magnetic resonance (CMR) now allows for time-resolved three-dimensional phase-contrast (4D flow) analysis of congenital heart disease (CHD). In infants with small vessels, the influence of contrast agent type (ferumoxytol vs. gadolinium) on 4D flow has not been investigated. Thus, we investigated the accuracy of 4D flow measurements in ferumoxytol vs. gadolinium-enhanced CMR of small CHD patients. Methods: This was a retrospective study consisting of CMR studies from CHD patients less than 20 kg who had ferumoxytol or gadolinium-enhanced 4D flow and standard phase contrast (2D-PC) flow collected. 4D flow clinical software (Arterys) was used to measure flow in great vessels, systemic veins and pulmonary veins. 4D flow accuracy was defined as % difference or correlation against conventional measurements from (2D-PC) of the same vessels. Subgroup analysis was performed on two-ventricular (2V) vs. single ventricular (1V) CHD, as well as low flows (defined as &lt; 1.5 L/min) in 1V CHD. Results: Twenty-one ferumoxytol-enhanced and 23 gadolinium-enhanced CMR studies were included, with no difference in age (2.1 ± 1.5 vs. 2.3 ± 1.8 years, p = 0.7), patient size (0.49 ± 0.18 vs. 0.51 ± 0.16 m 2 , p = 0.67), or vessel diameter (11.4 ± 5.2 vs. 12.4 ± 5.6, p = 0.22). 10 CMR studies with 1V CHD were included. Overall, ferumoxytol-enhanced 4D flow measurements demonstrated less % difference to 2D-PC when compared to gadolinium-enhanced studies (Figure 1A). In subgroup analysis of low flows in 1V CHD, ferumoxytol-enhanced 4D flow measurements had stronger correlation to 2D-PC (Figure 1B). Conclusions: In infants, ferumoxytol-enhanced 4D flow has improved accuracy when compared to gadolinium, particularly for small vessels in 1V CHD.

AIUM Practice Parameter for the Performance of Fetal Echocardiography.

AIUM Practice Parameter for the Performance of Fetal Echocardiography.

Exploring Shared Susceptibility between Two Neural Crest Cells Originating Conditions: Neuroblastoma and Congenital Heart Disease.

In the past years, genome wide association studies (GWAS) have provided evidence that inter-individual susceptibility to diverse pathological conditions can reveal a common genetic architecture. Through the analysis of congenital heart disease (CHD) and neuroblastoma (NB) GWAS data, we aimed to dissect the genetic susceptibility shared between these conditions, which are known to arise from neural crest cell (NCC) migration or development abnormalities, via identification and functional characterization of common regions of association. Two loci (2q35 and 3q25.32) harbor single nucleotide polymorphisms (SNPs) that are associated at a p-value < 10−3 with conotruncal malformations and ventricular septal defect respectively, as well as with NB. In addition, the lead SNP in 4p16.2 for atrial septal defect and the lead SNP in 3q25.32 for tetralogy of Fallot are less than 250 Kb distant from the lead SNPs for NB at the same genomic regions. Some of these shared susceptibility loci regulate the expression of relevant genes involved in NCC formation and developmental processes (such as BARD1, MSX1, and SHOX2) and are enriched in several epigenetic markers from NB and fetal heart cell lines. Although the clinical correlation between NB and CHD is unclear, our exploration of a possible common genetic basis between NB and a subset of cardiac malformations can help shed light on their shared embryological origin and pathogenetic mechanisms.

Patient-specific in vitro models for hemodynamic analysis of congenital heart disease – Additive manufacturing approach

Non-invasive hemodynamic assessment of total cavopulmonary connection (TCPC) is challenging due to the complex anatomy. Additive manufacturing (AM) is a suitable alternative for creating patient-specific in vitro models for flow measurements using four-dimensional (4D) Flow MRI. These in vitro systems have the potential to serve as validation for computational fluid dynamics (CFD), simulating different physiological conditions. This study investigated three different AM technologies, stereolithography (SLA), selective laser sintering (SLS) and fused deposition modeling (FDM), to determine differences in hemodynamics when measuring flow using 4D Flow MRI. The models were created using patient-specific MRI data from an extracardiac TCPC. These models were connected to a perfusion pump circulating water at three different flow rates. Data was processed for visualization and quantification of velocity, flow distribution, vorticity and kinetic energy. These results were compared between each model. In addition, the flow distribution obtained in vitro was compared to in vivo. The results showed significant difference in velocities measured at the outlets of the models that required internal support material when printing. Furthermore, an ultrasound flow sensor was used to validate flow measurements at the inlets and outlets of the in vitro models. These results were highly correlated to those measured with 4D Flow MRI. This study showed that commercially available AM technologies can be used to create patient-specific vascular models for in vitro hemodynamic studies at reasonable costs. However, technologies that do not require internal supports during manufacturing allow smoother internal surfaces, which makes them better suited for flow analyses.

Prevalence and descriptive analysis of congenital heart disease in parturients: obstetric, neonatal, and anesthetic outcomes

Study objectiveThe study objectives are to (1) assess prevalence of congenital heart disease (CHD), (2) describe outcomes of pregnancies in women with CHD, (3) compare outcomes in women with and without CHD, and (4) characterize neonatal outcomes in pregnancies complicated by CHD. DesignThis was a retrospective cohort study of women who delivered at the University of Colorado Hospital. Diagnosis of CHD was identified based on history of cardiac disease, pulmonary disease, or subacute bacterial endocarditis prophylaxis during labor and confirmed with echocardiogram when available. Comprehensive retrospective review of anesthetic, obstetric, and neonatal outcomes was performed. SettingUniversity of Colorado Hospital. Patients18,226 women. InterventionsMedical record review. MeasurementsValvular abnormalities, New York Heart Failure Association classification scores, types of CHD, maternal age, race, gravidity, parity, maternal prepregnancy body mass index, cigarette use, type of delivery, type of analgesia used, early initiation of neuraxial analgesia, arrhythmias, need for peripartum diuretics, prolonged maternal hospital stay, preterm birth, small for gestational age, neonatal CHD, neonatal or maternal intensive care unit (ICU) admissions, and maternal or neonatal death. Main resultsWe identified 117 pregnancies in 110 women with CHD. Parturients with CHD were more likely to have operative vaginal delivery (P < .0001), neonatal ICU admissions (P = .003), and had prolonged hospital stays. Occurrence of CHD in neonates was 6%. Moderate-to-severe valvular disease was associated with increased rates of operative vaginal delivery, early initiation of neuraxial labor analgesia, cardiac complications (including arrhythmia and use of diuretics), prolonged hospital stay, and maternal ICU admission. However, most deliveries and births were uncomplicated; and there were one case each of maternal mortality and fetal death after birth. ConclusionOperative abdominal deliveries and neonatal ICU admissions are more common in women with CHD, but these pregnancies are generally well tolerated with low mortality rates.

The new concept of univentricular heart.

The concept of univentricular heart moved from hearts with only one ventricle connected with atria [double inlet ventricle or absent atrioventricular (AV) connection] to hearts not amenable to biventricular repair, namely hearts with two ventricles unable to sustain separately pulmonary and systemic circulations in sequence. In the latter definition, even hearts with one hypoplastic ventricle are considered “functional” univentricular hearts. They include pulmonary/aortic atresia or severe stenosis with hypoplastic ventricle, and rare conditions like huge intramural cardiac tumors and Ebstein anomaly with extreme atrialization of right ventricular cavity. In this setting, the surgical repair is univentricular with “Fontan” operation, bypassing the ventricular mass. In other words, functionally univentricular heart is a condition in which, after surgery, only one ventricle sustain systemic circulation. Univentricular hearts (double inlet or absent AV connection) almost invariably show two ventricular chambers, one main and one accessory, which lacks an inlet portion. The latter is located posteriorly when morphologically left and anteriorly when morphologically right. As far as double inlet left ventricle, this is usually associated with discordant ventriculo-arterial (VA) connection (transposition of the great arteries) and all the blood flow to the aorta, which takes origin from the hypoplastic anterior right ventricle, is ventricular septal defect (bulbo-ventricular foramen) dependent. If restrictive, an aortic arch obstruction may be present. Double inlet left ventricle may be rarely associated with VA concordance (Holmes heart). As far as double inlet right ventricle with posterior hypoplastic left ventricular cavity, ventriculo-arterial connection is usually of double outlet type; thus the term double inlet–outlet right ventricle may be coined. Absent right or left AV connection may develop in the setting of both d- or l-loop, whatever the situs. In this condition, the contra-lateral patent AV valve may be either mitral or tricuspid in terms of morphology and the underlying ventricle (main chamber) either morphologically left or right. Establishing the loop, whatever right or left (also called right or left ventricular topology), is a fundamental step in the segmental-sequential analysis of congenital heart disease.

Segmental analysis of congenital heart disease: putting the "puzzle" together with computed tomography.

Advances in surgical and medical treatment for congenital heart disease have resulted in greater life expectancy. As a result, there has been an increase in the utilization of cross-sectional imaging for diagnosis and management of complex congenital heart disease. This manuscript describes a morphological and sequential segmental approach to deciphering the code of complex congenital heart defects in cross-sectional imaging, mostly computed tomography. This manuscript will review approaches to differentiate types of transposition, the anatomic relationships of cardiac structures, and the application of these relationships in the description of complex congenital heart disease.

Clinical analysis of congenital heart disease with pulmonary arterial hypertension in 119 cases

Objective To conduct a retrospective study on 119 cases and followed-up in order to improve the therapeutic efficacy of congenital heart disease(CHD) with pulmonary arterial hypertension(PAH). Methods Totally 119 cases of CHD with PAH were collected from Jan.2005 to Dec.2010.The information included the clinical data and relevant auxiliary examinations.The ages varied from 1 month to 15 years old, and the average age was(42.4±2.8) months.They were treated with drugs, interventional therapy or surgical treatment.Regular follow-up monitored the symptom, sign and the auxiliary examination including chest X ray and echocardiography. Results There were 66 children who had been treated with cardiac catheterization and 1 case had hemolysis 1 day after the catheterization, but finally all of them were cured.There were 53 cases who received surgical operation and 49 cases were improved.After the operation, 1 case became complicated with infection of incision wound, 8 cases had upper respiratory infection, 8 cases had arrhythmia, and 1 case complicated with pneumonia.Four cases died because of low cardiac output syndrome and pulmonary hypertension articulo.After the treatment, the pulmonary artery pressure came to the scope within from 8 to 90 mm Hg[(20.23±7.13) mm Hg], which showed a significant statistic difference compared to before(t=3.812, P 40 mm Hg.There were 17 cases of severe PAH, who received surgical operation after the drug treatment.There were 14 cases(82%) whose pulmonary artery pressure decreased >20 mm Hg.There were 2 cases had low cardiac output syndrome, and 1 case had PAH articulo.After the therapy, the pulmonary arterial pressure, cardiac thoracic ratio, chambers size, the systolic function of left heart were all improved compared with before. Conclusions It is important to diagnose as early as possible the CHD children with PAH, and to choose proper time for interventional or surgical therapy, especially for the moderate and severe cases, so that the cure rate as well as survival quality can be improved. Key words: Congenital heart disease; Pulmonary arterial hypertension; Combined therapy

Left Ventricular False Tendons: Echocardiographic, Morphologic, and Histopathologic Studies and Review of the Literature

Left ventricular false tendons (LVFTs) are fibrous or fibromuscular bands stretching across the left ventricle (LV) from the ventricular septum to the papillary muscle or LV free wall but not connecting, like the chordae tendinae, to the mitral leaflet. LVFTs have become the focus of studies and discussions since the advent of echocardiography. We prospectively studied the prevalence of LVFTs by two-dimensional echocardiography in 476 infants and children referred to our institute for cardiac evaluation and cardiology workup. We also studied the morphology and histopathology of LVFTs in 68 congenital heart disease specimens and in 20 piglet hearts. The literature was reviewed and the clinical significance of LVFTs was discussed. LVFTs of varying size and different location were detected in 371 (77.9%) of 476 infants and children studied, in 42 (61.8%) of 68 congenital heart disease specimens, and in 19 (95.0%) of 20 piglet hearts. Of the 75 LVFTs from the congenital heart disease specimens, 33 (44.4%) were fibrous type, measuring less than 1.4mm; 38 (50.7%) were fibromuscular type, 1.5-2.4mm; and 4 (5.3%) were muscular type, 2.5mm or more in diameter. Of the 33 LVFTs from the piglet hearts, 23 (69.7%) and 10 (30.3%) were fibrous and fibromuscular, respectively, and none (0.0%) was muscular. LVFTs were detected partially or completely by modified two-dimensional echocardiography in both normal and abnormal hearts. LVFTs is a useful anatomical landmark of LV for the differentiation of morphological LV and right ventricle in segmental analysis of congenital heart disease. LVFTs are a cause of functional murmur. No pressure gradient was noted in the mid-LV or outflow tract. LVFTs could be a contributory factor in the generation of dysrhythmias during LV catheterization studies. LVFTs were more easily identifiable in neonates and young age patients because of a better delineation of images in echocardiography.

Segmental analysis of a complex congenital heart disease using cardiac MDCT. Analyse of congenital heart disease: use of MDCT

Segmental analysis of a complex congenital heart disease using cardiac MDCT. Analyse of congenital heart disease: use of MDCT

Elucidating the Genetic Cause of Congenital Heart Defects

After completing this article, readers should be able to: 1. Understand the relationship between haploinsufficiency and autosomal dominant transmission. 2. Describe how incomplete penetrance and variable expressivity relate to the genetic analysis of congenital heart disease. 3. Delineate the current hypothesis for the cause of DiGeorge syndrome/velocardiofacial syndrome. 4. Understand the relationship between heterotaxy and congenital heart defects. 5. Discuss the possible role of folic acid in the development of congenital malformations. Congenital heart defects (CHD) are among the most common birth defects, with an incidence of 4 to 50 per 1,000 live births. CHD are the leading noninfectious cause of death in the first postnatal year. Although CHD long have been recognized as a component of complex genetic syndromes, a genetic cause for isolated CHD has been less obvious; the source of these defects generally has been believed to be multifactorial. In the past decade, however, molecular genetic studies have revealed that in many instances, CHD exhibits classic mendelian transmission and can be traced to discrete gene defects. The mendelian transmission of CHD may have been obscured by a variety of factors. As the genetic causes of CHD are being elucidated, substantial genetic heterogeneity (ie, mutations in different genes giving rise to the same phenotype) is becoming apparent. Another confounding factor in the genetic analysis of CHD has been the reduced penetrance of the mutant phenotypes, in which some individuals carrying the disease-causing mutations appear to be free of CHD. A third confounding factor has been variable expressivity. Clinically, CHD are classified anatomically (eg, conotruncal defects, atrial or ventricular septation defects). This classification has led to the bias that a particular genetic defect would result in a predictable anatomic defect. Although the resultant anatomic defects reflect the function of the mutated gene during cardiac development with many mutations, some genes impinge on several developmental …

Two- and three-dimensional echocardiographic analysis of congenital heart disease in the fetus

With increasing experience of obstetric sonographers, a higher proportion of cardiac malformations is found antenatally. However, undiagnosed fetal cardiac defects still result in a significant pre- and postnatal morbidity and mortality. The purpose of two- and three-dimensional echocardiographic imaging in the fetus is to provide clear representations of the underlying cardiac and vascular anatomy. Studies on pre- and postnatal echocardiography have shown these techniques to provide an adequate form of image display for comprehensive assessment of most cases with congenital heart disease. To date, two different methods are used for three-dimensional echocardiography in the fetus. The technique currently employed at numerous institutions derives from a complex assembly of sequentially acquired and reconstructed two-dimensional images and is analogous to the 3-D technology assessed in studies on neonates, children, and adults. Although an electromagnetic location device is used to register transducer position during data acquisition, this technique has important limitations due to fetal movement artifacts and difficulties in cardiac gating. This often results in inadequate image quality when compared with 2-D echocardiography. Recent progress in the design and fabrication of higher-frequency real-time volumetric transducers has greatly improved 3-D echocardiographic imaging resolution and allows more immediate three-dimensional "on-line" analysis of cardiac anatomy. Advantages of 3-D fetal echocardiography include the ability to slice the acquired 3-D volume data into an infinite number of two-dimensional cross sections, and the ability to reconstruct unique three-dimensional views not seen with two-dimensional imaging. However, considering the current limitations and the time needed for 3-D image processing, its practical clinical relevance in the antenatal situation is not yet clear.

Sequential segmental analysis of congenital heart disease.

Sequential segmental analysis of congenital heart disease.