Presence Of Cardiac Anomalies Research Articles

The ten-year evaluation of clinical characteristics in congenital lung anomaly in pediatrics; a retrospective study in North of Iran

IntroductionCongenital lung anomalies (CLA) are a group of anomalies, including congenital cystic adenomatoid malformation (CCAM), bronchopulmonary sequestrations (BPS), congenital lobar emphysema (CLE), and bronchogenic cysts (BC). The prevalence of these rare anomalies has risen in recent years, according to various population-based studies due to advances in fetal ultrasound technology.MethodThis retrospective study examines the diagnosis of CLA, and was conducted on 72 patients between March 2014 and March 2024 at Taleghani Pediatric Hospital in Gorgan, Iran.ResultThe average age was 18.8 ± 30.3 months, with the majority being boys (62.5%). Most participants had CCAM (41.7%), followed by CLE (18.1%), BPS (16.7%), pulmonary hypoplasia (9.7%), BC (8.3%), and hybrid lesion (5.6%). The majority of patients were Fars (62.5%), and the average hospitalization days was 9.4 ± 4.5 days. Cardiac anomalies were observed in 19.4% of the patients. 62 patients (86.1%) exhibited respiratory symptoms, and prenatal screening during pregnancy led to the diagnosis in 51 patients (70.8%). Most patients had left lung anomalies (43; 59.7%), and the majority (90.3%) survived. There is a statistically significant relation between needed for surgical treatment and patients’ type of pulmonary lesions (p-value: 0.02). In addition, there was a significant relation between the Fars ethnicity and the presence of cardiac anomalies (p-value: 0.04).ConclusionSome CLAs remain undiagnosed or untreated due to the rare nature of congenital lung anomalies. Nevertheless, improvements in ultrasound and other imaging methods will make diagnosing and managing these anomalies during the prenatal period more prevalent, resulting in enhanced understanding.

Unsupervised detection and classification of heartbeats using the dissimilarity matrix in PCG signals

Background and objective: Auscultation is the first technique applied to the early diagnose of any cardiovascular disease (CVD) in rural areas and poor-resources countries because of its low cost and non-invasiveness. However, it highly depends on the physician’s expertise to recognize specific heart sounds heard through the stethoscope. The analysis of phonocardiogram (PCG) signals attempts to segment each cardiac cycle into the four cardiac states (S1, systole, S2 and diastole) in order to develop automatic systems applied to an efficient and reliable detection and classification of heartbeats. In this work, we propose an unsupervised approach, based on time-frequency characteristics shown by cardiac sounds, to detect and classify heartbeats S1 and S2.Methods: The proposed system consists of a two-stage cascade. The first stage performs a rough heartbeat detection while the second stage refines the previous one, improving the temporal localization and also classifying the heartbeats into types S1 and S2. The first contribution is a novel approach that combines the dissimilarity matrix with the frame-level spectral divergence to locate heartbeats using the repetitiveness shown by the heart sounds and the temporal relationships between the intervals defined by the events S1/S2 and non-S1/S2 (systole and diastole). The second contribution is a verification-correction-classification process based on a sliding window that allows the preservation of the temporal structure of the cardiac cycle in order to be applied in the heart sound classification. The proposed method has been assessed using the open access databases PASCAL, CirCor DigiScope Phonocardiogram and an additional sound mixing procedure considering both Additive White Gaussian Noise (AWGN) and different kinds of clinical ambient noises from a commercial database.Results: The proposed method outperforms the detection and classification performance of other recent state-of-the-art methods. Although our proposal achieves the best average accuracy for PCG signals without cardiac abnormalities, 99.4% in heartbeat detection and 97.2% in heartbeat classification, its worst average accuracy is always above 92% for PCG signals with cardiac abnormalities, signifying an improvement in heartbeat detection/classification above 10% compared to the other state-of-the-art methods evaluated.Conclusions: The proposed method provides the best detection/classification performance in realistic scenarios where the presence of cardiac anomalies as well as different types of clinical environmental noises are active in the PCG signal. Of note, the promising modelling of the temporal structures of the heart provided by the dissimilarity matrix together with the frame-level spectral divergence, as well as the removal of a significant number of spurious heart events and recovery of missing heart events, both corrected by the proposed verification-correction-classification algorithm, suggest that our proposal is a successful tool to be applied in heart segmentation.

22q11.2 deletion syndrome: 20 years of experience from two pediatric immunology units and review of clues for diagnosis and disease management.

The purpose of this study was to evaluate patients diagnosed with 22q11.2 deletion syndrome and determine the clues directing to diagnosis and evaluation of immunological findings for excellent management of the disease. Thirty-three pediatric patients with 22q11.2 deletion syndrome diagnosed between 1998 and 2019 at Pediatric Immunology Division of Ege University Faculty of Medicine and SBU Izmir Dr Behcet Uz Children's Education and Research Hospital were evaluated. This study includes the largest case series reported from Turkey. Congenital cardiac anomalies were the most common pathology associated with the syndrome (90.9%). Hypocalcemic symptoms were observed in 13 patients (40%). Twenty-two of the 33 (66.6%) patients were diagnosed before two years of age. Autoimmune diseases, dysmorphic facial findings, recurrent infections, growth retardation, and speech impairment were other clues for diagnosis in older patients. Clinical spectrum and immunological abnormalities of this syndrome are quite variable. All T-cell subset counts were less than 5th percentile below median by age in one patient (3%) and 10 patients had normal all T-cell subset counts (30.3%). Overall, 69.6% of the patients had normal IgG, IgA, and IgM levels and two patients had panhypogammaglobulinemia. Recurrent infections were revealed in 75.7% of the patients during follow-up. Presence of cardiac anomaly is more helpful in the diagnosis, especially under two years of age. Patients with immunologically high or standard risk did not show any difference in terms of numbers and severity of infections and autoimmunity.

Is thoracoscopic esophageal atresia repair safe in the presence of cardiac anomalies?

BackgroundEsophageal atresia (EA) is often associated with congenital heart disease (CHD). Repair of EA by the thoracoscopic approach places physiological stress on a newborn with CHD. This paper reviews the outcomes of infants with CHD who had undergone thoracoscopic EA repair, comparing their outcomes to those without CHD. MethodsThis was a review of infants who underwent thoracoscopic EA repair from 2009 to 2017 at one institution. Operative time and outcomes were analyzed in relation to CHD status. ResultsTwenty five infants underwent thoracoscopic EA repair during the study period. Seventeen (68%) had associated anomalies of whom 9 (36%) had cardiac anomalies. The mean operative time was 217 min. There was no difference in operative time between CHD and non-CHD cases (estimate 20 min longer operative time in the presence of a cardiac anomaly [95% CI −20 to 57]). Two cases were converted to open thoracotomy; both were non-CHD. There was no difference in the time to feeding, time in intensive care unit or time in hospital between CHD and non-CHD cases. Five patients developed an anastomotic leak (two CHD and three non-CHD) of which two were clinical; all were managed conservatively. There was no case of recurrent fistula. ConclusionsThis pilot study did not find evidence that thoracoscopic EA repair compromised outcomes in children with congenital heart disease. A prospective multicenter study with long-term follow-up is recommended to confirm whether thoracoscopic repair in CHD is truly equivalent to the open operation. Type of studyTherapeutic. Level of evidenceLevel III.

A study of arterial stiffness in turner syndrome patients using cardio-ankle vascular index

A large proportion of the increased mortality in Turner syndrome (TS) is related to cardiovascular complications. Increased arterial stiffness may be an important predictor related to cardiovascular complications in TS patients. A novel method of evaluating arterial stiffness, which is relatively independent of changes in blood pressure (BP), is the cardio-ankle vascular index (CAVI). The aim of this study was to compare arterial stiffness using CAVI between TS patients and healthy controls and to evaluate for possible factors affecting arterial stiffness within the patient group. Known TS patients (n=24) with confirmed karyotypes were recruited from the outpatient clinic of Seoul National University Children’s Hospital between August, 2010 and June, 2013. Patients with type 2 diabetes and/or hypertension requiring medication were excluded. There were 5 patients with one or more combined congenital heart anomalies (aortic coarctation (n=2), bicuspid aortic valve (n=2), aortic stenosis (n=3). Anthropometric data, fasting blood lab and measurements of CAVI and pulse wave velocity were collected. A healthy control group (n=23) matched for age and body mass index (BMI) were recruited for comparison. The mean age and BMI of the TS patients were 27.0 years and 22.8 kg/m2 respectively while that of the control were 28.2 years and 22.04 kg/m2. CAVI was significantly higher in the TS patients compared to controls (6.05 vs. 6.65, P < 0.001), while there was no significant difference in pulse wave velocity. Univariate analysis for factors affecting CAVI within the TS patient group showed that CAVI was associated with waist circumference (P = 0.04) and systolic BP (P = 0.045). There were no significant factors related to CAVI using multivariate regression analysis including age, systolic BP, waist circumference, HOMA-IR and presence of cardiac anomalies. TS patients showed an increased arterial stiffness compared to age- and BMI-matched controls using CAVI measurement. Further prospective studies in larger TS patient group are mandatory in order to find significant factors related to increased arterial stiffness.

Variable gene expression in turner syndrome patients with bicuspid aortic valve

Turner syndrome (TS) is caused by the partial or complete loss of the second sex chromosome in females and affects 1 in 2500 live female births. Thirty percent of women with non-mosaic classic TS (45,X) have bicuspid aortic valve (BAV), as compared to 1-2% of individuals in the general population. BAV and aortic coarctation have been associated with loss of the p arm of the X chromosome in TS. Importantly, the presence of cardiac anomalies in TS greatly increases the risk of cardiac related death in women with TS who pursue donor egg pregnancy. Gene expression profiling studies may identify specific genes on the X chromosome associated with BAV, or may highlight ongoing differences in gene transcription related to the presence of BAV. Gene expression profiling analysis. Sixteen women with 45,X detected on peripheral karyotype in 50 cells underwent DNA expression array profiling of peripheral blood lymphocytes using Affymetrix GeneChip Human Genome U133 Plus 2.0 Array as part of the IRB approved NICHD protocol “Turner Syndrome: Genotype and Phenotype.” All women underwent cardiac MRI to accurately access aortic valve anatomy and all 16 had unambiguous cardiac MRI results. Eight women had BAV and eight women had tricuspid aortic valve (TAV). Analysis comparing TS with TAV and TS with BAV gene expression was performed with Partek Genomics Suite, using a 1-way ANOVA test. Comparing TS with BAV and TS with TAV, 2747 genes show a significant difference in expression of 1.2 fold or greater (p<0.05) and 155 genes were differentially expressed with p-value less than 0.001. Genes with greater than a 2 fold difference are enriched for immunoglobulin genes, with 11 immunoglobulin (Ig) genes showing greater than 2 fold up-regulation in BAV versus TAV (of 67 genes). CD38, a gene encoding for a cell surface marker, is up-regulated 1.9 fold in BAV versus TAV (p=0.0011). There are differences in gene expression comparing TS with BAV versus TAV. It is unclear why expression of Ig genes would be up-regulated with BAV; however, this finding may have potential as a biomarker in TS for BAV through measurement of quantitative Igs or Ig light chain assays. Additionally, flow cytometry may detect different levels of CD-38 expression, another possible biomarker. These findings require confirmation using a different expression profiling modality. Further study is needed to explore whether these or possibly other biomarkers suggested by transcriptomic data, may be useful clinically in TS.

Effect of Kasai Procedure on Hepatic Outcome in Alagille Syndrome

Alagille syndrome (AGS) frequently presents with neonatal jaundice and can mimic other causes of high gamma-glutamyl transpeptidase (GGT) cholestasis, most notably biliary atresia. As a result infants with AGS may undergo intraoperative cholangiogram and even Kasai procedure. The aim of the study was to assess the hepatic outcomes of children with AGS who underwent the Kasai procedure. A retrospective review of the AGS clinical database at the Children's Hospital of Philadelphia was performed to identify clinically defined patients with AGS who underwent a Kasai. A cohort of Alagille control subjects was selected with equivalent symptoms of neonatal jaundice and matched for age and presence of cardiac anomaly. JAGGED1-mutation analysis was performed on available samples. Clinical courses were reviewed. Fisher exact and t tests were used for analysis. Of the 430 patients with AGS, 19 underwent a Kasai procedure (K). The control cohort (C) consisted of 36 patients. Total bilirubin measured between 6 and 10 weeks of age in each cohort was equivalent (K: 9.6 mg/dL, C: 8.7 mg/dL); GGT levels were higher in the control group (K:493.4 U/L, C:574.4 U/L). Of note, the Kasai cohort had a significantly larger number of liver transplants (K: 9 [47.3%], C: 5 [13.9%], P = 0.01) and sustained higher mortality (K: 6 [31.6%], C: 1 [2.8%], P = 0.005). There was no genotype-phenotype correlation between the mutations identified and patients who underwent Kasai. These data suggest that the Kasai procedure, although appropriate for children with biliary atresia, does not benefit children with AGS and actually appears to worsen outcome. The current data suggest that the Kasai is not a marker for underlying severe liver disease, but the procedure itself may have a detrimental effect on outcome. An appropriate medical evaluation and particular consideration of AGS is essential before surgical referral in infants with high GGT cholestasis.

The KBG syndrome: Case report

IntroductionThe KBG syndrome is a rare autosomal dominant condition, first described by Hermann et al. in 1975. Fundamental findings are: mild development delay, short stature, craniofacial dysmorphism and skeletal anomalies.Case presentationA 32 years old woman, Caucasian race, weight 57 Kg, affected by KBG syndrome was sent to our clinics for preoperative anaesthesia evaluation. She was schedules for left ossicular reconstruction under general anaesthesia for bilateral hearing loss. A psycho-motor retardation was associated to morphological anomalies such as short neck, hyperlordosis without neck extension imparirment, craniofacial anomalies and dento-skeletal abnormalities. An echocardiography showed the presence of interatrial defect with left-to-right shunt. The patient was sent to a cardiac surgery centre.ConclusionPerioperative evaluation of patients affected by KBG syndrome must take into consideration the management of difficult airways, due to the associated craniofacial dysmorphism. The possible presence of cardiac anomalies in the KBG syndrome is currently being evalueted. In this report the finding of cardiomegaly and congestion of the pulmonary circulation was attributed to presence of an interatrial defect with left-to-right shunt. The risk of cardiopulmonary failure led us to ask for a cardiac surgery consult. Perioperative management of these patients should be extremely accurate, even in the case of minor surgery, and should include also chest X-rays and echocardiography evaluation.

Redefining outcomes in right congenital diaphragmatic hernia

Available data comparing the management and outcome of right-sided (R-CDH) vs left-sided congenital diaphragmatic hernia (L-CDH) are inconsistent. Large-volume CDH studies are limited by small numbers of R-CDH or are confounded by compilations from multiple institutions with multiple treatment strategies. Consequently, they are underpowered to draw conclusions. To define the behavior and outcomes of R-CDH better, we report the largest single-institution series of R-CDH and ask if factors traditionally linked to poor prognosis in L-CDH were applicable to R-CDH. We reviewed a single institution's experience with 267 consecutive evaluable neonates with unilateral CDH repaired from 1990 to 2006, with specific focus on R-CDH. chi(2) tests were performed for disease-related categorical variables. Two-tailed unpaired t tests were used for continuous variables. Factors associated with morbidity and survival were determined by univariate regression. Statistical significance was set at P < .05. Forty right-sided (15%) and 227 (85%) left-sided cases of CDH were identified. Prenatal diagnosis was made in 20 right-sided vs 170 left-sided defects (50% vs 75%, P < .01). Survival was 22 of 40 in R-CDH compared with 175 of 227 in L-CDH (55% vs 77%, P < .01). Extracorporeal membrane oxygenation was required in 16 right-sided and 33 left-sided cases (40% vs 15%, P < .001). A diaphragmatic patch was used in 22 of 29 right-sided compared with 82 of 199 left-sided repairs (76% vs 41%, P < .01); rates of abdominal wall prosthesis were also higher in right-sided hernias (38% vs 19%, P < .05). No differences were detected in right-sided vs left-sided recurrences (14% vs 8%, P = .38), mean time from birth to operation (5.3 vs 4.8 days, P = .80), or presence of cardiac anomalies (15% vs 12%, P = .63). Morbidity persisting beyond 6 months of age was present in 16 of 22 R-CDH survivors compared with 76 of 175 L-CDH survivors (73% vs 43%, P > .05). Among R-CDHs, prenatal diagnosis was the only factor to predict survival by univariate regression (P < .01). Use of a prosthesis in the diaphragm (P < .05) for R-CDH repair correlated with morbidity. Although previous reports suggest that associated anomalies, need for extracorporeal membrane oxygenation, and time to repair can influence L-CDH survival, these data do not support extrapolation to R-CDH survival. Right-sided CDH carries a disproportionately high morbidity and mortality. Prenatal diagnosis was the only factor predictive of R-CDH survival. Morbidity may correlate with use of prosthetic material for R-CDH repair. Right-sided CDH is a unique disease that may require a modified antenatal consultation.

Pregnancy and birth history of newborns with trisomy 18 or 13: A pilot study

The prognosis for infant survival in newborns diagnosed with the trisomy conditions Edward syndrome (trisomy 18) and Patau syndrome (trisomy 13) is poor [Goldstein and Nielsen, 1988; Root and Carey, 1994; Brewer et al., 2002]. Major contributing factors to early mortality include gestational age of less than 32 weeks, limited use of life support measures, apnea and other respiratory difficulties and presence of cardiac anomalies [Root and Carey, 1994; Rasmussen et al., 2003]. Other authors have [Van Dyke and Allen, 1989; Baty et al., 1994; Rasmussen et al., 2003; Carey, 2005] discussed the medical management and overall health needs of survivors. Newborns, surviving past 2 months of age, typically present ongoing medical needs in addition to day-to-day newborn caregiving requirements [Baty et al., 1994; Niedrist et al., 2006; Pont et al., 2006]. Studies published in the 1980s and early 1990s offer an examination of the strengths and needs of newborns with these trisomy syndromes [e.g., Goldstein and Nielsen, 1988; Van Dyke and Allen, 1989; Boss and Broers, 1992; Root and Carey, 1994; Nembhard et al., 2001]. Some recent researchers have reviewed birth registers from the 1980s to the mid 1990s and have found improved outcomes compared to the others [Canfield et al., 2001; Parker et al., 2003]. Further, cardiac surgery has assisted in extending the life expectancy for some infants with rare trisomy conditions [Graham et al., 2004]. Less invasive procedures and interventions are also providing avenues for improved daily management and long term care [Kosho et al., 2006; Lin et al., 2006; Niedrist et al., 2006]. It is imperative to examine the varied courses and outcomes for newborns with these conditions in more detail. Newborns with trisomy 18 (t18) or 13 face an uncertain course in the NICU and after discharge [Baty et al., 1994;Walters, 1998; Rasmussen et al., 2003; McIntosh et al., 2004; Tripp and McGregor, 2006]. In recent years, European investigators have collaborated with clinicians and cytogeneticists throughout the world in the development of international registries of individuals with rare chromosome syndrome [http://decipher.sanger.ac.uk/; www.ecaruca.net]. Additional collaborative endeavors are needed and could include parents and caregivers. The Tracking Rare Incidence Syndromes (TRIS) project can contribute to such efforts through collection of phenotypic data [Bruns, 2006]. The previously described issues highlight the need to investigate maternal pregnancy experiences, childbirth history and presenting needs. This information can also provide useful, parent-completed data for registries, open new avenues for parentprofessional advocacy and collaboration, and demonstrate the utility of such databases. This pilot study sought to examine:

Intracardiac Echogenic Focus: No Apparent Association with Structural Cardiac Abnormality

Objective: The aim of our study was to evaluate whether intracardiac echogenic foci (ICEFs) may be associated with increased risk for structural cardiac anomalies in the low-risk population. Methods: During a 24-month period, 3,744 low-risk patients were prospectively screened for ICEFs by prenatal sonography. The study group was composed of 138 fetuses (3.7%) with ICEF. The control group was composed of 167 fetuses without ICEF. In all fetuses a complete echocardiographic evaluation was performed. Results: Among the 138 fetuses in the study group, 108 (78%) ICEFs were found in the left ventricle, 25 (18%) were found in the right ventricle, and 5 (4%) were found to be bilateral. No statistically significant difference was found between the study and the control group regarding the presence of cardiac anomalies. Only 1 case (0.7%) of pulmonic stenosis was found in the study group, compared to 1 case (0.6%) of bicuspid aortic valve in the control group. Conclusions: We conclude that ICEFs found in low-risk patients are not associated with a significant increase in the risk of cardiac anomalies.