Left Ventricular Diastolic Dysfunction and Diastolic Heart Failure in Preterm Infants
AbstractDiastolic dysfunction is primarily an echocardiographic diagnosis. Its clinical counterpart is diastolic heart failure, where the heart has difficulty to fill at normal pressure and the patient develops signs of pulmonary edema. Although diastolic dysfunction is common in adults, limited information is available in preterm infants. The aim of this study is to explore left ventricular diastolic dysfunction and diastolic heart failure in preterm infants and describe clinical manifestations in this population. This is a retrospective observational study in preterm infants
Source: Mammalian Genome - October 9, 2019 Category: Genetics & Stem Cells Source Type: research

Orthostatic and Exercise Effects in Children Years After Kawasaki Disease
AbstractThe long-term orthostatic and/or exercise hemodynamic effects in children years after Kawasaki disease (KD) were studied using clinical data from the treadmill exercise test (TMET). Heart rate (HR) and blood pressures (BPs) recorded in TMET were compared between two age, gender, and body scale-matched groups of patients with and without a history of KD. The KD group included 60 patients (9.8  ± 2.7 years old) 6.6 ± 2.6 years after KD without coronary arterial aneurysm. The non-KD group included 60 children (10.2 ± 2.7 years old) with othe...
Source: Mammalian Genome - October 8, 2019 Category: Genetics & Stem Cells Source Type: research

Personalised Warfarin Dosing in Children Post-cardiac Surgery
AbstractWarfarin dosing is challenging due to a multitude of factors affecting its pharmacokinetics (PK) and pharmacodynamics (PD). A novel personalised dosing algorithm predicated on a warfarin PK/PD model and incorporating CYP2C9 and VKORC1 genotype information has been developed for children. The present prospective, observational study aimed to compare the model with conventional weight-based dosing. The study involved two groups of children post-cardiac surgery: Group 1 were warfarin na ïve, in whom loading and maintenance doses were estimated using the model over a 6-month duration and compared to historical cas...
Source: Mammalian Genome - October 5, 2019 Category: Genetics & Stem Cells Source Type: research

Usefulness of Postnatal Echocardiography in Patients with Down Syndrome with Normal Fetal Echocardiograms
The objective of this study is to evaluate if the diagnosis of a complex congenital heart disease (CHD) was missed in a patient with Down syndrome (DS) who had a fetal echocardiogram that was read as normal. Secondary goal of this study was to determine if any CHD was missed postnatally when a fetal echocardiogram was read as normal. A retrospective chart review of children with DS at Nationwide Children ’s Hospital whose birthdates were between 1/1/2010 and 12/31/2017 was performed. Patients were included if they had a fetal echocardiogram that was read as normal and also had a postnatal echocardiogram performed. On...
Source: Mammalian Genome - September 20, 2019 Category: Genetics & Stem Cells Source Type: research

Upcoming Events in Pediatric Cardiology
(Source: Mammalian Genome)
Source: Mammalian Genome - September 20, 2019 Category: Genetics & Stem Cells Source Type: research

Reclassification of Variants of Uncertain Significance in Children with Inherited Arrhythmia Syndromes is Predicted by Clinical Factors
AbstractGenetic testing is important to augment clinical diagnosis and inform management of inherited arrhythmias syndromes (IAS), but variants of uncertain significance (VUS) are common and remain a challenge in clinical practice. In 2015, American College of Medical Genetics (ACMG) published updated guidelines for interpretation of genetic results. Despite increasing understanding of human genomic variation, there are no guidelines for reinterpretation of prior genetic test results. Patients at a single tertiary children ’s hospital with genetic testing for an IAS that demonstrated a VUS were re-evaluated using 201...
Source: Mammalian Genome - September 18, 2019 Category: Genetics & Stem Cells Source Type: research

Does Restrictive Lung Function Affect the Exercise Capacity in Patients with Repaired Tetralogy of Fallot?
AbstractPatients with repaired Tetralogy of Fallot (rTOF) have decreased exercise capacity (XC) and restrictive lung function (RLF). Our objective was to determine the association between RLF and impaired XC in patients with rTOF. This was a single center retrospective review of patients with rTOF who underwent a cardiopulmonary treadmill exercise testing and spirometry from 2005 to 2015. Patients with a respiratory exchange ratio  ≥ 1.05 and peak heart rate >  90% of predicted value were included. Forced vital capacity (FVC) and Forced expiratory volume in 1st second of forceful expiratio...
Source: Mammalian Genome - September 17, 2019 Category: Genetics & Stem Cells Source Type: research

Cardiac Autonomic Function in the First Hours of Postnatal Life: An Observational Cross-Sectional Study in Term Neonates
AbstractThe aim of this study was to evaluate heart rate variability (HRV) within the first hours of extrauterine life in term neonates. HRV at 2-h and 14-h postpartum were compared by means of time domains (iRR, SDNN, and rMSSD); frequency domains (TP, LF, HF, and LF/HF ratio); and Poincare ’s Plot (SD1 and SD2) indices of HRV in 27 healthy, male, term newborns (NBs) born of elective cesarean delivery. Within 14 h after birth, the mean of the iRRs increased (Δ% = 4.4,p 
Source: Mammalian Genome - September 16, 2019 Category: Genetics & Stem Cells Source Type: research

Double Orifice Mitral Valve in Tricuspid Atresia: A Rare Association
AbstractWe here report a neonate with prenatal echocardiographic diagnosis of tricuspid atresia, with normally related great vessels, and large ventricular septal defect. This diagnosis could be confirmed with echocardiography at birth. An additional double mitral orifice was also seen. This is a very rare association. (Source: Mammalian Genome)
Source: Mammalian Genome - September 10, 2019 Category: Genetics & Stem Cells Source Type: research

Implementation of Quality-of-Life Assessment Increases Referrals for Intervention in Patients with Tetralogy of Fallot
AbstractMortality from surgical repair of tetralogy of Fallot (TOF) has decreased dramatically over the last several decades. Despite excellent surgical outcomes, studies reveal that patients with TOF continue to have decreased physical functioning, academic difficulties, and psychosocial impairments. We hypothesized that administering a validated quality-of-life assessment to patients with TOF during routine cardiology follow-up visits would help identify deficits and increase referrals to appropriate interventional programs. Between May 2017 and November 2018, TOF patients (5 –20 years) and/or their families c...
Source: Mammalian Genome - September 5, 2019 Category: Genetics & Stem Cells Source Type: research

Cardiac Troponin T in Healthy Full-Term Infants
AbstractIn this prospective cohort study of healthy full-term infants, we hypothesized that high-sensitivity cardiac troponin T (hs-cTnT) would be elevated in cord blood, compared with adult reference values, and that it would further increase over the first days of age. Cardiac troponin T has been shown to be significantly increased in healthy full-term newborns compared with adult reference values, but there is no established reference range. Most studies of cTnT in newborns have been performed before the introduction of high-sensitivity cTnT (hs-cTnT) assay. We conducted a study including 158 full-term newborns, at Stoc...
Source: Mammalian Genome - September 5, 2019 Category: Genetics & Stem Cells Source Type: research

Early Neurodevelopmental Outcomes in Children with Hypoplastic Left Heart Syndrome and Related Anomalies After Hybrid Procedure
In this study, we reported neurodevelopment at 12  months for two cohorts of children managed with the hybrid and clinical factors associated with neurodevelopment in the entire sample. We performed a retrospective study of children with single ventricle who had undergone a neonatal hybrid procedure. One group included infants with hypoplastic lef t heart syndrome (HLHS); another group included infants with non-HLHS single ventricle. Neurodevelopment was assessed with 12-month Bayley III. Parametric and non-parametric statistics were used for analysis. Nine infants with HLHS and 15 with non-HLHS were identified. Abnor...
Source: Mammalian Genome - August 30, 2019 Category: Genetics & Stem Cells Source Type: research

Acute Hemodynamic Effects of Negative Extrathoracic Pressure in Fontan Physiology
AbstractWe sought to assess acute hemodynamic changes after implementation of negative extrathoracic pressure (NEP) in spontaneously breathing ambulatory Fontan patients with symptomatic heart failure. We hypothesized that application of NEP would result in an acute decrease in pulmonary artery pressure. Ten patients with clinical evidence of Fontan failure underwent baseline hemodynamic catheterization while breathing spontaneously. Hemodynamic measurements were then repeated after 30  min of continuous NEP. After 30 min of continuous NEP, 4/10 patients had a decrease in their Fontan pressure by 2 mmHg and ...
Source: Mammalian Genome - August 29, 2019 Category: Genetics & Stem Cells Source Type: research

Sex-Specific Differences in Ventricular Dimensions in Repaired Tetralogy of Fallot: A Retrospective Study
AbstractThe timing of pulmonary valve replacement (PVR) in asymptomatic patients with repaired tetralogy of Fallot (TOF) is typically based on cardiac magnetic resonance imaging-derived ventricular volume measurements. Current criteria do not account for sex-based differences in chamber size. The purpose of this study was to compare male and female ventricular volumes and function in TOF patients with a hypothesis that females are less likely to meet common-indexed right ventricular end-diastolic volume (RVEDVi) and right ventricular end-systolic volume (RVESVi) criteria for PVR. Cardiac magnetic resonance data from 17 fem...
Source: Mammalian Genome - August 10, 2019 Category: Genetics & Stem Cells Source Type: research

Exploring the Activities of RBPMS Proteins in Myocardial Biology
AbstractNumerous RNA-binding proteins (RBPs) are expressed in the heart, and mutations in several RBPs have been implicated in cardiovascular disease through genetic associations, animal modeling, and mechanistic studies. However, the functions of many more cardiac RBPs, and their relevance to disease states, remain to be elucidated. Recently, we have initiated studies to characterize the functions of the RBPs RBPMS and RBPMS2 in regulating myocardial biology in zebrafish and higher vertebrate species. These studies began when we learned, using an unbiased gene discovery approach, thatrbpms2a andrbpms2b in zebrafish are ro...
Source: Mammalian Genome - August 9, 2019 Category: Genetics & Stem Cells Source Type: research

Exercise Capacity in Asymptomatic Adult Patients Treated for Coarctation of the Aorta
This study sought to assess exercise capacity and blood pressure response in asymptomatic patients long-term after CoA repair in relation to left ventricular and vascular function. Twenty-two CoA patients (age 30  ± 10.6 years) with successful surgical repair (n = 12) or balloon angioplasty (n = 10) between 3 months and 16 years of age with a follow-up of >  10 years underwent cardiopulmonary exercise testing at a mean follow-up of 23.9 years. Exercise capacity (peak oxygen uptake; VO2peak) and blood pressure response were compared t...
Source: Mammalian Genome - August 7, 2019 Category: Genetics & Stem Cells Source Type: research

Learn from Your Elders: Developmental Biology Lessons to Guide Maturation of Stem Cell-Derived Cardiomyocytes
AbstractHuman pluripotent stem cells (hPSCs) offer a multifaceted platform to study cardiac developmental biology, understand disease mechanisms, and develop novel therapies. Remarkable progress over the last two decades has led to methods to obtain highly pure hPSC-derived cardiomyocytes (hPSC-CMs) with reasonable ease and scalability. Nevertheless, a major bottleneck for the translational application of hPSC-CMs is their immature phenotype, resembling that of early fetal cardiomyocytes. Overall, bona fide maturation of hPSC-CMs represents one of the most significant goals facing the field today. Developmental biology stu...
Source: Mammalian Genome - August 6, 2019 Category: Genetics & Stem Cells Source Type: research

Talin and Kindlin as Integrin-Activating Proteins: Focus on the Heart
AbstractIntegrin receptors enable cells to sense and respond to their chemical and physical environment. As a class of membrane receptors, they provide a dynamic, tightly regulated link between the extracellular matrix or cellular counter-receptors and intracellular cytoskeletal and signaling networks. They enable transmission of mechanical force across the plasma membrane, and particularly for cardiomyocytes, may sense the mechanical load placed on cells. Talins and Kindlins are two families of FERM —domain proteins which bind the cytoplasmic tail of integrins, recruit cytoskeletal and signaling proteins involved in...
Source: Mammalian Genome - July 31, 2019 Category: Genetics & Stem Cells Source Type: research

Knowledge of Life-Long Cardiac Care by Adolescents and Young Adults with Congenital Heart Disease
AbstractNational management guidelines recommend that patients with moderate and complex congenital heart disease (CHD) receive life-long cardiac care (LLCC), guided in adulthood by an adult congenital heart disease (ACHD) specialist. However, the percentage of adult CHD patients who receive such care is quite low. Inadequate knowledge regarding LLCC may contribute to care interruption. We, therefore, sought to determine the knowledge of adolescents and young adults regarding LLCC. In this multi-center study, we administered a survey to patients 13 –20 years of age with surgically repaired congenital heart disea...
Source: Mammalian Genome - July 31, 2019 Category: Genetics & Stem Cells Source Type: research

Adverse Perioperative Events in Children with Complex Congenital Heart Disease Undergoing Operative Scoliosis Repair in the Contemporary Era
AbstractScoliosis is common in children with congenital heart disease (CHD) and may have deleterious effects on quality of life and hemodynamics. Relatively little is known about the outcomes of spinal fusion for scoliosis repair in children with complex CHD. We reviewed all cases of children with CHD undergoing first time spinal fusion excluding those with minor CHD between 1995 and 2015. Seventy-eight patients were identified and included in the study. 97.4% of patients included had undergone prior cardiac surgery and sixteen patients had single ventricle circulations. 17.9% of patients experienced a significant perioper...
Source: Mammalian Genome - July 26, 2019 Category: Genetics & Stem Cells Source Type: research

Impact of Characteristics at Stage-2-Palliation on Outcome Following Fontan Completion
AbstractThe optimal timing of stage-2-palliation (S2P) in single left ventricle is not clear. The aim of this study was to identify S2P related factors associated with outcomes after total cavopulmonary connection (TCPC), particularly relative to the dominant systemic ventricle. A total of 405 patients who underwent both S2P and TCPC at our institute between 1997 and 2017 was included. Patients were divided into two groups, dominant right ventricle (RV type,n = 235) and dominant left ventricle (LV type,n = 170). S2P related factors associated with mortality, postoperative ventricular function, and late ...
Source: Mammalian Genome - July 24, 2019 Category: Genetics & Stem Cells Source Type: research

Defects in Trabecular Development Contribute to Left Ventricular Noncompaction
AbstractLeft ventricular noncompaction (LVNC) is a genetically heterogeneous disorder the etiology of which is still debated. During fetal development, trabecular cardiomyocytes contribute extensively to the working myocardium and the ventricular conduction system. The impact of developmental defects in trabecular myocardium in the etiology of LVNC has been debated. Recently we generated new mouse models of LVNC by the conditional deletion of the key cardiac transcription factor encoding geneNkx2-5 in trabecular myocardium at critical steps of trabecular development. These conditional mutant mice recapitulate pathological ...
Source: Mammalian Genome - July 24, 2019 Category: Genetics & Stem Cells Source Type: research

Direct Oral Anticoagulants: Novel Approach for the Treatment of Thrombosis in Pediatric Patients?
This article reviews the current data from pre- and post-marketing studies reporting the use of DOACs for the treatment of VTE in pediatric patients. (Source: Mammalian Genome)
Source: Mammalian Genome - July 20, 2019 Category: Genetics & Stem Cells Source Type: research

Procalcitonin Concentration Measured Within the First Days of Cardiac Surgery Is Predictive of Postoperative Infections in Neonates: A Case –Control Study
AbstractIncreased procalcitonin concentration (PCT) is known to be reliable for the identification of infections even in the presence of the non-specific systemic inflammatory response seen after cardiopulmonary bypass (CPB), whereas increased C-reactive protein concentration (CRP) is not. The present work explored the ability of neonate PCT measured early after cardiac surgery to identify postoperative infections. This was a retrospective case –control study, where PCT was matched between patients with and without infections according to the patient’s age, the CPB length, the use of deep hypothermic circulator...
Source: Mammalian Genome - July 16, 2019 Category: Genetics & Stem Cells Source Type: research

Oral Triiodothyronine Supplementation Decreases Low Cardiac Output Syndrome After Pediatric Cardiac Surgery
AbstractThe oral triiodothyronine for infants and children undergoing cardiopulmonary bypass (OTICC) trial showed that Triiodothyronine (T3) supplementation improved hemodynamic and clinical outcome parameters. We tested the validity of low cardiac output syndrome (LCOS), derived using clinical parameters and laboratory data, by comparing the LCOS diagnosis with objective parameters commonly measured in a cardiac intensive care unit (CCU) setting. OTICC, a randomized, placebo-controlled trial included children younger than 3  years with an Aristotle score between 6 and 9. We used the existing trial data set to compare...
Source: Mammalian Genome - July 15, 2019 Category: Genetics & Stem Cells Source Type: research

Heart Transplantation from Biventricular Support in Infant with Novel SMYD1 Mutation
We describe here the care of an infant suffering from cardiac failure due to an SMYD1 mutation requiring biventricular assist devices as a bridge to successful heart transplantation. The patient is now doing well 2  years post-transplant and represents a known survivor of a suspected uniformly fatal genetic mutation. (Source: Mammalian Genome)
Source: Mammalian Genome - July 5, 2019 Category: Genetics & Stem Cells Source Type: research

Standardized Approach to Intervention for Intestinal Malrotation in Single Ventricle Patients with Heterotaxy Syndrome: Impact on Interstage Attrition and Time to Superior Cavopulmonary Connection
AbstractHeterotaxy syndrome (HS) is a significant determinant of outcome in single ventricle (SV) physiology. Attrition rate and time-related events associated with intestinal malrotation (IM) are, yet, to be determined. We sought to evaluate hospital and interstage outcomes in relation with operative intervention for IM (IMO). Twelve SV/HS patients, who underwent IMO, from January 2004 to December 2016, were studied. Early shunt failure, time to superior cavopulmonary connection (SCPC) and interstage attrition were assessed. Since September 2014, based on a comprehensive standardized protocol, IMO was performed at the tim...
Source: Mammalian Genome - June 25, 2019 Category: Genetics & Stem Cells Source Type: research

Arterial Pressure Monitoring in Pediatric Patients Undergoing Cardiac Surgery: An Observational Study Comparing Invasive and Non-invasive Measurements
In conclusion, a wide bias can be detected in post-cardiac surgery children between IABP and NIBP pressures in more than half of measurements, with underdamping/resonance incidence being relatively low. Measurement of both methods without a limb preference should be considered in cardiac surgery children. (Source: Mammalian Genome)
Source: Mammalian Genome - June 20, 2019 Category: Genetics & Stem Cells Source Type: research

Development and Evaluation of a New Chest Compression Technique for Cardiopulmonary Resuscitation in Infants
AbstractWe designed the newly developed flexed two-finger chest compression technique for cardiopulmonary resuscitation (CPR) in infants to increase the quality of chest compression by considering the advantages and disadvantages of the two-thumb encircling hand technique and conventional two-finger technique. The aim of the study is to compare the performance of the flexed two-finger technique and the currently used two-thumb technique or two-finger technique for infant CPR. A total of 42 doctors conducted 2-min single-rescuer CPR on a cardiac arrest infant model using the two-thumb technique followed, in a random order, ...
Source: Mammalian Genome - June 19, 2019 Category: Genetics & Stem Cells Source Type: research

Surgical Outcomes in Syndromic Tetralogy of Fallot: A Systematic Review and Evidence Quality Assessment
AbstractTetralogy of Fallot (ToF) is one of the most common cyanotic congenital heart defects. We sought to summarize all available data regarding the epidemiology and perioperative outcomes of syndromic ToF patients. A PRISMA-compliant systematic literature review of PubMed and Cochrane Library was performed. Twelve original studies were included. The incidence of syndromic ToF was 15.3% (n = 549/3597). The most prevalent genetic syndromes were 22q11.2 deletion (47.8%; 95% CI 43.4–52.2) and trisomy 21 (41.9%; 95% CI 37.7–46.3). Complete surgical repair was performed in 75.2% of the patients (n&th...
Source: Mammalian Genome - June 18, 2019 Category: Genetics & Stem Cells Source Type: research

Comparative Cardiorespiratory Fitness in Children: Racial Disparity May Begin Early in Childhood
AbstractAfrican American (AA) adults are reported to have lower levels of cardiorespiratory fitness (CRF) as compared to Caucasian adults. CRF is linked to cardiovascular morbidity and mortality. We hypothesized that the disparities start early in childhood. This was a retrospective analysis of the cardiopulmonary exercise test (CPET). We included normal healthy children,  ≤ 18 years of age, who had normal electrocardiograms and normal cardiac function. We excluded patients with congenital heart disease, obesity and suboptimal exercise test. The entire cohort was divided into two groups based on race ...
Source: Mammalian Genome - June 8, 2019 Category: Genetics & Stem Cells Source Type: research

Comparison Between Nomograms Used to Define Pediatric Aortic Arch Hypoplasia: Retrospective Evaluation Among Patients Less Than 1 Year Old with Coarctation of the Aorta
AbstractAlthough various modalities are currently in use to define pediatric aortic arch hypoplasia (AAH), there is little uniformity among them. We aimed to determine the inter-rater strength of agreement of the nomograms in a survey of patients less than 1 year old, who had undergone coarctation of the aorta (CoA) repair with or without AAH. This retrospectively designed study comprised of 105 patients with CoA, who had been evaluated between 2008 and 2018 by means of a computed tomography angiogram. Through re-estimation of the aortic arch segmental diameters, thez scores were calculated using three nomograms (Cantinott...
Source: Mammalian Genome - June 5, 2019 Category: Genetics & Stem Cells Source Type: research

Successful Truncal Valve Replacement After Truncal Valve Repairs
This report describes a 14-day-old neonate with severe truncal valve insufficiency successfully undergoing truncal valve repairs, and followed by valve replacement at the age of 4  years. The truncal valve was quadricuspid with two large and two small leaflets, and all leaflets had severe dysplastic and myxomatous changes. We performed leaflet extension and bicuspidization valvuloplasty for this valve. This patient obtained somatic growth for 4 years without heart failure s ymptoms, and safely underwent prosthetic valve replacement. This technique would be effective for truncal valve dysfunction in neonates as th...
Source: Mammalian Genome - June 1, 2019 Category: Genetics & Stem Cells Source Type: research

Upcoming Events in Pediatric Cardiology
(Source: Mammalian Genome)
Source: Mammalian Genome - May 16, 2019 Category: Genetics & Stem Cells Source Type: research

Anatomical Details Should Accompany Studies of Hypoplastic Left Heart Syndrome
(Source: Mammalian Genome)
Source: Mammalian Genome - May 14, 2019 Category: Genetics & Stem Cells Source Type: research

Impact of Pregnancy on Aortic Root in Women with Repaired Conotruncal Anomalies
This study examined aortic diameters during and after pregnancy in women with repaired CTA. A retrospective review of consecutive pregnant women with repaired CTA was performed for results of echocardiography from 1  year before pregnancy to 3 years after delivery and compared with findings from healthy pregnant volunteers. Participants comprised 42 subjects and 49 deliveries with repaired CTA (CTA group), and 47 healthy pregnant women (control group). Although no maternal aortic events were encountered, aort ic diameters during pregnancy increased by 1.0 ± 2.2 mm (maximum, 7.0 mm) ...
Source: Mammalian Genome - May 13, 2019 Category: Genetics & Stem Cells Source Type: research

Correction to: A Novel Somatic Variant in HEY2 Unveils an Alternative Splicing Isoform Linked to Ventricular Septal Defect
The original version of this article unfortunately contained a mistake in the author name. The first author name should be Manal Fardoun instead of Manal Fardon. The original article has been corrected. (Source: Mammalian Genome)
Source: Mammalian Genome - May 13, 2019 Category: Genetics & Stem Cells Source Type: research

Left Ventricular Pseudoaneurysm Following Surgical Repair of Ventricular Septal Defect in an Infant
This report describes the development of LV-PSA following surgical repair of ventricular septal defect (VSD) and coarctation of aorta (CoA) in an infant. (Source: Mammalian Genome)
Source: Mammalian Genome - May 9, 2019 Category: Genetics & Stem Cells Source Type: research

Routine Detection of Atrial Fibrillation/Flutter Predicts a Worse Outcome in a Cohort of Tetralogy of Fallot Patients During 23  Years of Follow-Up
AbstractAtrial flutter/fibrillation (AFL/AF) is a late complication in adults with repaired tetralogy of Fallot (TOF). Its effects on long-term prognosis are not fully understood. We evaluate the impact of AFL/AF in adults with repaired TOF on global mortality and unplanned hospitalizations during follow-up, and the predictors for AFL/AF occurrence. The presence of AFL/FA was analysed in all exams performed during the last 10  years of outpatients follow up in a unicentric cohort of repaired TOF between 1980 and 2003. Two-hundred and six patients were included; at a mean follow-up of 21 ± 8.2 ...
Source: Mammalian Genome - May 6, 2019 Category: Genetics & Stem Cells Source Type: research

Whole-Exome Sequencing Reveals Novel Genetic Variation for Dilated Cardiomyopathy in Pediatric Chinese Patients
AbstractDilated cardiomyopathy (DCM) is characterized by left or bilateral ventricular dilation and systolic dysfunction without rational conditions, which can lead to progressive heart failure and sudden cardiac death. Most of the pathogenic genes have been reported in adult population by locus mapping in familial cases and animal model studies. However, it still remains challenging to decipher the role of genetics in the etiology of pediatric DCM. We applied whole-exome sequencing (WES) for 30 sporadic pediatric DCM subjects and 100 non-DCM local controls. We identified the pathogenic mutations using bioinformatics tools...
Source: Mammalian Genome - April 16, 2019 Category: Genetics & Stem Cells Source Type: research

Reverse Remodeling of Pulmonary Arterioles After Pulmonary Artery Banding in Patients ≥ 2 Years Old with Severe Pulmonary Arterial Hypertension and Congenital Heart Disease
AbstractThe purpose of this study was to evaluate the pathological changes of the pulmonary arterioles in patients ≥ 2 years of age who first underwent a pulmonary artery banding (PAB) procedure, followed by bidirectional Glenn or Fontan according to their specific conditions. This was a prospective study of 15 children diagnosed and treated with PAB at the Department of Cardiothoracic Surgery of Anzhen Hosp ital between January 2009 and December 2012. The percentage of media area (%MS) of pulmonary arteriole, the percentage of media thickness (%MT), and pulmonary arterial density (APSC) were calculated from lung...
Source: Mammalian Genome - April 13, 2019 Category: Genetics & Stem Cells Source Type: research

A Novel Somatic Variant in HEY2 Unveils an Alternative Splicing Isoform Linked to Ventricular Septal Defect
AbstractCongenital heart defects (CHDs) are the leading cause of death in infants under 1  year of age. Aberrations in the expression and function of cardiac transcription factors (TFs) are a major contributor to CHDs. Despite the numerous studies undertaken to functionally characterize these TFs, their exact role in different stages of cardiogenesis is still not fully elucidated. Here we focused on HEY2, a basic helix loop helix transcriptional repressor, and its potential role in human ventricular septal defects. Genetic analysis was performed based on sequencing of DNA and cDNA obtained from post-operational cardia...
Source: Mammalian Genome - April 6, 2019 Category: Genetics & Stem Cells Source Type: research

Screening Echocardiography and Brain Natriuretic Peptide Levels Predict Late Pulmonary Hypertension in Infants with Bronchopulmonary Dysplasia
AbstractThrough this study, we aimed to assess the ability of routine neonatal screening at time of bronchopulmonary dysplasia (BPD) diagnosis to predict the development of late pulmonary hypertension (PHTN). This is a retrospective longitudinal cohort study of 37 premature infants with BPD assessing the utility of screening serum brain natriuretic peptide (BNP) and echocardiograms performed at the time of BPD diagnosis ( ‘early PHTN’) to predict ‘late PHTN’ at the last follow-up. Screening evaluation demonstrated early PHTN in 9/37 patients. At an average follow-up interval of 52.7 ±&...
Source: Mammalian Genome - April 1, 2019 Category: Genetics & Stem Cells Source Type: research

Postoperative heart failure after stage 1 palliative surgery for single ventricle cardiac disease
AbstractOutcomes for patients with single ventricle congenital heart disease (SV-CHD) continue to improve over time. However, the prognosis for patients who develop heart failure immediately after surgery is poorly understood. We conducted a single-center, retrospective cohort study of patients with SV-CHD, who suffered postoperative heart failure. Of 1038 cardiac surgeries performed on 621 SV-CHD patients between 2004 and 2010, 125 patients met inclusion criteria, including non-septatable anatomy, stage 1 surgery, and verified low cardiac output or heart failure state per STS definition. Overall survival was 73.2% at 2 &n...
Source: Mammalian Genome - April 1, 2019 Category: Genetics & Stem Cells Source Type: research

Ambulatory Arrhythmia Detection with ZIO ® XT Patch in Pediatric Patients: A Comparison of Devices
AbstractAmbulatory electrocardiogram monitoring devices can be used for 24 –72 h to detect arrhythmias. A new device, the ZIO® XT Patch has cardiac monitoring capabilities that can be utilized for up to 14 days. The purpose of this study is to describe duration of ZIO use by age, and to compare its time to arrhythmia detection with the Holter monitor in a pediatric pop ulation. A single-center, retrospective review of patients 
Source: Mammalian Genome - April 1, 2019 Category: Genetics & Stem Cells Source Type: research

Outcomes of Reinterventions for Children with Postoperative Pulmonary Venous Restenosis
This report aims to summarize  and evaluate the efficacy and experience of reintervention for children with postoperative pulmonary venous restenosis. Clinical data from 61 patients with postoperative pulmonary venous restenosis who underwent reintervention at Shanghai Children’s Medical Center (SCMC) from September 2009 t o June 2018 were retrospectively analyzed. The patients comprised 38 boys and 23 girls, with a mean age of 15.4 ± 12.6 months (2-83 months) and a mean weight of 8.1 ± 3.4 kg (3.7–18.5 kg). The mean pulmonary ven...
Source: Mammalian Genome - April 1, 2019 Category: Genetics & Stem Cells Source Type: research

Cardiovascular Collapse with Intravenous Amiodarone in Children: A Multi-Center Retrospective Cohort Study
AbstractObjectiveTo determine the incidence of cardiovascular collapse in children receiving intravenous (IV) amiodarone and to identify the population at risk.DesignA multicenter study of patients ≤ 18 years of age who received intravenous amiodarone between January 2005 and December 2015. A retrospective analysis was performed to identify patients who developed cardiovascular collapse (bradycardia and/or hypotension).ResultsOf 456 patients who received amiodarone, cardiovascular collapse occurred in 47 patients (10%). Patient risk factors for collapse in a univariate analysis were as follows: age  
Source: Mammalian Genome - March 30, 2019 Category: Genetics & Stem Cells Source Type: research

Umbilical Vein Catheter Protruding Through a Pulmonary Vein in a Patient with an Infracardiac Type Total Abnormal Pulmonary Venous Drainage
(Source: Mammalian Genome)
Source: Mammalian Genome - March 30, 2019 Category: Genetics & Stem Cells Source Type: research

Right Ventricular Mechanical Dyssynchrony in Hypoplastic Left Heart Syndrome: Correlation with Systolic Function and QRS Duration
AbstractThe single right ventricle (RV) in hypoplastic left heart syndrome (HLHS) often develops systolic dysfunction with time and this affects prognosis. Mechanical dyssynchrony has been reported in HLHS but has not consistently correlated with systolic function or electrical dyssynchrony. The aims of this study were to assess the relationship between RV mechanical dyssynchrony, RV systolic function, and QRS duration on surface electrocardiography. We hypothesized that surface QRS duration would not be an adequate indicator of mechanical dyssynchrony compared with dyssynchrony parameters. Retrospective analysis of echoca...
Source: Mammalian Genome - March 20, 2019 Category: Genetics & Stem Cells Source Type: research

Feasibility and Normal Ranges of Arterial Intima-Media Thickness and Stiffness in 2-Year-Old Children: A Pilot Study
AbstractIntroductionIn adults, noninvasive assessments of vascular function have been established. However, little is known about the applicability and reference values of these techniques among children  
Source: Mammalian Genome - March 16, 2019 Category: Genetics & Stem Cells Source Type: research