Review of speckle tracking analysis to measure the size, shape, and contractility of the fetal heart in fetuses with congenital heart defects.

Evaluation of the fetal heart involves two approaches. The first describes a screening protocol in which the heart is imaged in transverse planes that includes the four-chamber view (4CV), left and right outflow tracts, and the 3-vessel-tracheal view. The second approach is a fetal echocardiogram that requires additional cardiac images as well as evaluating ventricular function using diagnostic tools such as M-mode and pulsed Doppler ultrasound.

Prenatal Congenital Heart Disease and Placental Phenotypes: Preserved Neonatal Weight Despite Small Placentas.

Background: Congenital heart disease (CHD) affects 8 in 1,000 live births with significant postnatal implications including growth failure, neurodevelopmental delay, and mortality. The placenta develops concomitantly with the fetal heart. High rates of placental pathology and discordant growth in pregnancies affected by CHD highlight the significance of the fetal-placental-cardiac axis.

High-Throughput Genomics Identify Novel Variants in Severe Neonatal Marfan Syndrome and Congenital Heart Defects.

Fibrillin-1 and fibrillin-2, encoded by and , respectively, play significant roles in elastic fiber assembly, with pathogenic variants causing a diverse group of connective tissue disorders such as Marfan syndrome (MFS) and congenital contractural arachnodactyly (CCD). Different genomic variations may lead to heterogeneous phenotypic features and functional consequences. Recent high-throughput sequencing modalities have allowed detection of novel variants that may guide the care for patients and inform the genetic counseling for their families.

Fetal Pericardial Teratoma: Perinatal Management and Example of Preterm Cesarean Birth to Resection.

A very large fetal pericardial teratoma was diagnosed at 28 weeks' gestation, prompting urgent multidisciplinary expert consultations to weigh the risks and benefits of various prenatal invasive procedures and preterm delivery for postnatal surgical management. Ultimately, the infant was born by planned cesarean section and underwent immediate cardiopulmonary bypass and surgical resection.

Integration of Prenatal Cardiovascular Magnetic Resonance Imaging in Congenital Heart Disease.

Standard of care echocardiography can have limited diagnostic accuracy in certain cases of fetal congenital heart disease. Prenatal cardiovascular magnetic resonance (CMR) imaging has potential to provide additional anatomic imaging information, including excellent soft tissue images in multiple planes, improving prenatal diagnostics and in utero hemodynamic assessment. We conducted a literature review of fetal CMR, including its development and implementation into clinical practice, and compiled and analyzed the results.

Prospective Evaluation of High Titer Autoantibodies and Fetal Home Monitoring in the Detection of Atrioventricular Block Among Anti-SSA/Ro Pregnancies.

Objective: This prospective study of pregnant patients, Surveillance To Prevent AV Block Likely to Occur Quickly (STOP BLOQ), addresses the impact of anti-SSA/Ro titers and utility of ambulatory monitoring in the detection of fetal second-degree atrioventricular block (AVB).

Methods: Women with anti-SSA/Ro autoantibodies by commercial testing were stratified into high and low anti-52-kD and/or 60-kD SSA/Ro titers applying at-risk thresholds defined by previous evaluation of AVB pregnancies. The high-titer group performed fetal heart rate and rhythm monitoring (FHRM) thrice daily and weekly/biweekly echocardiography from 17-26 weeks.

Perivascular Basal Echogenicity in the Fetal Heart: An Unconventional Marker of Maternal Autoimmune Antibodies.

Fetal congenital heart block is a widely recognized complication of pregnancies with anti Ro/La antibodies. Less common presentations, including dilated cardiomyopathy, myocarditis, valvular insufficiency, and endocardial fibroelastosis, have also been described in these fetuses. We present two cases where recognition of isolated basal echogenicity of the fetal heart, an unconventional manifestation of anti-SSA antibodies during pregnancy, led to a suspicion and ultimately diagnosis of antibody positivity in the mother.

Whole-Exome Sequencing Identifies Homozygote Nonsense Variants in Gene Causing Infantile Dilated Cardiomyopathy.

As an essential component of the sarcomere, actin thin filament stems from the Z-disk extend toward the middle of the sarcomere and overlaps with myosin thick filaments. Elongation of the cardiac thin filament is essential for normal sarcomere maturation and heart function. This process is regulated by the actin-binding proteins Leiomodins (LMODs), among which has recently been identified as a key regulator of thin filament elongation to reach a mature length.

Speckle Tracking Analysis in Fetuses with D-Transposition: Predicting the Need for Urgent Neonatal Balloon Atrial Septostomy.

Introduction: Speckle tracking analysis of the endocardium of the right (RV) and left (LV) ventricles was used to evaluate the size, shape, and contractility of these chambers in fetuses with D-Transposition of the great arteries (D-TGA) to identify fetuses that would require emergent balloon atrial septostomy (BAS) after birth.

Methods: This was a retrospective analysis of fetuses with D-TGA and intact ventricular septum that were divided into 2 groups. Group 1 underwent urgent BAS after birth because of a restrictive atrial septum and group 2 did not.

Speckle tracking analysis to evaluate the size, shape, and function of the atrial chambers in fetuses with d-transposition of the great arteries to predict the need for neonatal urgent balloon atrial septostomy.

Introduction: Speckle tracking analysis was used to evaluate right (RA) and left (LA) atria size, shape and contractility to create a probability calculator to identify fetuses at risk for urgent neonatal balloon atrial septostomy (BAS).

Methods: The study group consisted of 39 fetuses with D-TGA, of which 55% (N = 22) required neonatal BAS and 45% (N = 17) did not. The RA and LA end-diastolic areas, lengths, widths, and sphericity indices as well as global, longitudinal, and transverse contractility were measured with speckle tracking analysis.

Impact of Technologic Innovation and COVID-19 Pandemic on Pediatric Cardiology Telehealth.

Purpose Of Review: Established telehealth practices in pediatrics and pediatric cardiology are evolving rapidly. This review examines several concepts in contemporary telemedicine in our field: recent changes in direct-to-consumer (DTC) pediatric telehealth (TH) and practice based on lessons learned from the pandemic, scientific data from newer technological innovations in pediatric cardiology, and how TH is shaping global pediatric cardiology practice.

Recent Findings: In 2020, the global pandemic of COVID-19 led to significant changes in healthcare delivery.

Prenatal Detection of Congenital Heart Disease: Importance of Fetal Echocardiography Following Normal Fetal Cardiac Screening.

Fetal echocardiography may be performed because of noncardiac indications (the pregnancy is identified as high risk for fetal cardiac disease), or because of fetal cardiac indications (abnormal fetal heart at the time of a screening ultrasound). Considering recent improvements in fetal cardiac screening over the past decade, the goal of this single institution study was to reconsider the importance of performing fetal echocardiography purely for screening (noncardiac) indications. We performed a retrospective analysis to review screening and fetal cardiac indications and fetal cardiac findings for fetal echocardiograms performed at UCLA between 2015 and 2019.

Abnormalities of the Width of the Four-Chamber View and the Area, Length, and Width of the Ventricles to Identify Fetuses at High-Risk for D-Transposition of the Great Arteries and Tetralogy of Fallot.

Objectives: The prenatal detection of D-Transposition of the great arteries (D-TGA) and tetralogy of Fallot (TOF) has been reported to be less than 50% to as high as 77% when adding the outflow tracts to the four-chamber screening protocol. Because many examiners still struggle with the outflow tract examination, this study evaluated whether changes in the size and shape of the heart in the 4CV as well as the ventricles occurred in fetuses with D-TGA and TOF could be used to screen for these malformations.

Methods: Forty-four fetuses with the pre-and post-natal diagnosis of D-TGA and 44 with TOF were evaluated between 19 and 36 weeks of gestation in which the 4CV was imaged.

Race-based disparities in access to surgical palliation for hypoplastic left heart syndrome.

Background: Racial disparities in outcomes have been shown to persist in many operative specialties, including the management of congenital heart disease. Using a demographic-adjusted methodology, we examined whether patient race influenced access to high-performing centers for the operative management of hypoplastic left heart syndrome.

Methods: The 2005-2017 National Inpatient Sample was queried to identify all pediatric (≤5 years) hospitalizations with an operation for hypoplastic left heart syndrome.

Speckle-Tracking Analysis in Fetuses With Tetralogy of Fallot: Evaluation of Right and Left Ventricular Contractility and Left Ventricular Function.

Objectives: This study examines fetuses with tetralogy of Fallot (TOF) and evaluates the right (RV) and left (LV) ventricular contractility and LV function using speckle-tracking analysis of the endocardium.

Methods: The study group consisted of 44 fetuses with TOF, of which 34% had pulmonary valve atresia (N = 15) and 59% (N = 26) had pulmonary valve stenosis. The RV and LV global fractional area change, longitudinal contractility (longitudinal strain, free wall strain, septal strain, free wall and septal annular fractional shortening, and free wall and septal wall annular plane systolic excursion), and transverse contractility (24-segment fractional shortening) as well as LV functional assessment (stroke volume, cardiac output, and ejection fraction) were measured using speckle-tracking analysis.

Measuring the Area of the Interventricular Septum in the 4-Chamber View: A New Technique to Evaluate the Fetus at Risk for Septal Hypertrophy.

Objectives: One of the problems for the clinician who desires to measure the interventricular septum (IVS) in a high-risk fetus is to know where to make the measurement. The purpose of this study was to use speckle-tracking analysis to measure the IVS area, 24-segment widths, and length at end-diastole (ED) and end-systole (ES) in normal fetuses.

Methods: From the 4-chamber view, speckle-tracking analysis was performed at ED and ES on the IVS in 200 normal fetuses.

Case Report: Whole Exome Sequencing Identifies Compound Heterozygous Variants in Gene Causing Juvenile Hypertrophic Cardiomyopathy.

We report a case of hypertrophic cardiomyopathy and lactic acidosis in a 3-year-old female. Cardiac and skeletal muscles biopsies exhibited mitochondrial hyperplasia with decreased complex IV activity. Whole exome sequencing identified compound heterozygous variants, p.

Speckle Tracking Analysis to Evaluate the Size, Shape, and Function of the Atrial Chambers in Normal Fetuses at 20-40 Weeks of Gestation.

Objectives: The purpose of this study was to use speckle tracking analysis to evaluate the size, shape, and function of the atrial chambers in normal fetuses and develop a z-score calculator that can be used in future studies in fetuses at risk for cardiovascular disease.

Methods: The control group consisted of 200 normal fetuses examined between 20 and 40 weeks of gestation in which speckle tracking analysis of right (RA) and left (LA) atrial chambers was performed. The atrial end-diastolic and end-systolic endocardial borders for each chamber were identified from which measurements of atrial length, width, area, and volume were computed.

Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome.

Among neonatal cardiomyopathies, primary endocardial fibroelastosis (pEFE) remains a mysterious disease of the endomyocardium that is poorly genetically characterized, affecting 1/5000 live births and accounting for 25% of the entire pediatric dilated cardiomyopathy (DCM) with a devastating course and grave prognosis. To investigate the potential genetic contribution to pEFE, we performed integrative genomic analysis, using whole exome sequencing (WES) and RNA-seq in a female infant with confirmed pathological diagnosis of pEFE. Within regions of homozygosity in the proband genome, WES analysis revealed novel parent-transmitted homozygous mutations affecting three genes with known roles in cilia assembly or function.

Discordant congenital heart defects in monochorionic twins: Risk factors and proposed pathophysiology.

A six-fold increase in congenital heart defects (CHD) exists among monochorionic (MC) twins compared to singleton or dichorionic twin pregnancies. Though MC twins share an identical genotype, discordant phenotypes related to CHD and other malformations have been described, with reported rates of concordance for various congenital anomalies at less than 20%. Our objective was to characterize the frequency and spectrum of CHD in a contemporary cohort of MC twins, coupled with genetic and clinical variables to provide insight into risk factors and pathophysiology of discordant CHD in MC twins.

Evaluation of Fetal Cardiac Size and Shape: A New Screening Tool to Identify Fetuses at Risk for Tetralogy of Fallot.

Objective: Prenatal detection rates for tetralogy of Fallot (TOF) vary between 23 and 85.7%, in part because of the absence of significant structural abnormalities of the 4-chamber view (4CV), as well as the relative difficulty in detection of abnormalities during the screening examination of the outflow tracts. The purpose of this study was to evaluate whether the 4CV and ventricles in fetuses with TOF may be characterized by abnormalities of size and shape of these structures.

Heart Disease and Stroke Statistics-2021 Update: A Report From the American Heart Association.

Background: The American Heart Association, in conjunction with the National Institutes of Health, annually reports the most up-to-date statistics related to heart disease, stroke, and cardiovascular risk factors, including core health behaviors (smoking, physical activity, diet, and weight) and health factors (cholesterol, blood pressure, and glucose control) that contribute to cardiovascular health. The Statistical Update presents the latest data on a range of major clinical heart and circulatory disease conditions (including stroke, congenital heart disease, rhythm disorders, subclinical atherosclerosis, coronary heart disease, heart failure, valvular disease, venous disease, and peripheral artery disease) and the associated outcomes (including quality of care, procedures, and economic costs).

Methods: The American Heart Association, through its Statistics Committee, continuously monitors and evaluates sources of data on heart disease and stroke in the United States to provide the most current information available in the annual Statistical Update.