Lymphatic Interventions in Congenital Heart Disease.

Lymphatic disorders in congenital heart disease can be broadly classified into chest compartment, abdominal compartment, or multicompartment disorders. Heavily T2-weighted noninvasive lymphatic imaging (for anatomy) and invasive dynamic contrast magnetic resonance lymphangiography (for flow) have become the main diagnostic modalities of choice to identify the cause of lymphatic disorders. Selective lymphatic duct embolization (SLDE) has largely replaced total thoracic duct embolization as the main lymphatic therapeutic procedure. Recurrence of symptoms needing repeat interventions is more common in patients who underwent SLDE. Novel surgical and transcatheter thoracic duct decompression strategies are promising, but long-term follow-up is critical and eagerly awaited.

Art or Artifact: Evaluating the Accuracy, Appeal, and Educational Value of AI-Generated Imagery in DALL·E 3 for Illustrating Congenital Heart Diseases.

Artificial Intelligence (AI), particularly AI-Generated Imagery, has the potential to impact medical and patient education. This research explores the use of AI-generated imagery, from text-to-images, in medical education, focusing on congenital heart diseases (CHD). Utilizing ChatGPT's DALL·E 3, the research aims to assess the accuracy and educational value of AI-created images for 20 common CHDs. In this study, we utilized DALL·E 3 to generate a comprehensive set of 110 images, comprising ten images depicting the normal human heart and five images for each of the 20 common CHDs. The generated images were evaluated by a diverse group of 33 healthcare professionals. This cohort included cardiology experts, pediatricians, non-pediatric faculty members, trainees (medical students, interns, pediatric residents), and pediatric nurses. Utilizing a structured framework, these professionals assessed each image for anatomical accuracy, the usefulness of in-picture text, its appeal to medical professionals, and the image's potential applicability in medical presentations. Each item was assessed on a Likert scale of three. The assessments produced a total of 3630 images' assessments. Most AI-generated cardiac images were rated poorly as follows: 80.8% of images were rated as anatomically incorrect or fabricated, 85.2% rated to have incorrect text labels, 78.1% rated as not usable for medical education. The nurses and medical interns were found to have a more positive perception about the AI-generated cardiac images compared to the faculty members, pediatricians, and cardiology experts. Complex congenital anomalies were found to be significantly more predicted to anatomical fabrication compared to simple cardiac anomalies. There were significant challenges identified in image generation. Based on our findings, we recommend a vigilant approach towards the use of AI-generated imagery in medical education at present, underscoring the imperative for thorough validation and the importance of collaboration across disciplines. While we advise against its immediate integration until further validations are conducted, the study advocates for future AI-models to be fine-tuned with accurate medical data, enhancing their reliability and educational utility.

[Specification for genetic diagnosis of congenital heart disease].

Congenital heart disease (CHD) is one of the most common congenital malformations and a major cause of mortality among neonates and children. Conventional methods for the diagnosis of CHD have relied on clinical features and imaging findings. With the rapid development of genetic techniques, to identify the cause of CHD through genetic diagnosis has gained great significance for the early diagnosis, treatment, and prevention of CHD. However, currently there is still a lack of norms and standards for the genetic diagnosis of CHD. In view of this, experts from the relevant fields have formulated the present norm by integrating the latest research advances on CHD-related genes with the current clinical practice on the diagnosis and treatment of CHD and status quo of genetic diagnosis in China. The norm has been recommended by the Cardiology Section of the Chinese Medical Education Association, the Medical Genetics Branch and the Heart Group of Pediatric Surgery Branch of the Chinese Medical Association, which has formulated the procedures and norms of genetic testing, prenatal diagnosis, and genetic counseling for CHD, with an aim to provide reference for clinicians as the standards for the integrated diagnosis, early treatment, and prevention of CHD.

Clinical Decision Analysis of Genetic Evaluation and Testing in 1013 Intensive Care Unit Infants with Congenital Heart Defects Supports Universal Genetic Testing.

Extracardiac anomalies (ECAs) are strong predictors of genetic disorders in infants with congenital heart disease (CHD), but there are no prior studies assessing performance of ECA status as a screen for genetic diagnoses in CHD patients. This retrospective cohort study assessed this in our comprehensive inpatient CHD genetics service focusing on neonates and infants admitted to the intensive care unit (ICU). The performance and diagnostic utility of using ECA status to screen for genetic disorders was assessed using decision curve analysis, a statistical tool to assess clinical utility, determining the threshold of phenotypic screening by ECA versus a Test-All approach. Over 24% of infants had genetic diagnoses identified (n = 244/1013), and ECA-positive status indicated a 4-fold increased risk of having a genetic disorder. However, ECA status had low-moderate screening performance based on predictive summary index, a compositive measure of positive and negative predictive values. For those with genetic diagnoses, nearly one-third (32%, 78/244) were ECA-negative but had cytogenetic and/or monogenic disorders identified by genetic testing. Thus, if the presence of multiple congenital anomalies is the phenotypic driver to initiate genetic testing, 13.4% (78/580) of infants with isolated CHD with identifiable genetic causes will be missed. Given the prevalence of genetic disorders and limited screening performance of ECA status, this analysis supports genetic testing in all CHD infants in intensive care settings rather than screening based on ECA.

Update on Prenatal Detection Rate of Critical Congenital Heart Disease Before and During the COVID-19 Pandemic.

Prenatal diagnosis of critical congenital heart disease (CCHD) has improved over time, and previous studies have identified CCHD subtype and socioeconomic status as factors influencing rates of prenatal diagnosis. Our objective of this single-center study was to compare prenatal diagnosis rates of newborns with CCHD admitted for cardiac intervention from the COVID-19 pandemic period (March 2020 to March 2021) to the pre-pandemic period and identify factors associated with the lack of CCHD prenatal diagnosis. The overall rate of CCHD and rates of the various CCHD diagnoses were calculated and compared with historical data collection periods (2009-2012 and 2013-2016). Compared with the 2009-2012 pre-pandemic period, patients had 2.17 times higher odds of having a prenatal diagnosis of CCHD during the pandemic period controlling for lesion type (aOR = 2.17, 95% CI 1.36-3.48, p = 0.001). Single ventricle lesions (aOR 6.74 [4.64-9.80], p < 0.001) and outflow tract anomalies (aOR 2.20 [1.56-3.12], p < 0.001) had the highest odds of prenatal diagnosis compared with the remaining lesions. Patients with outflow tract anomalies had higher odds for prenatal detection in the pandemic period compared with during the 2009-2012 pre-pandemic period (aOR 2.01 [1.06-3.78], p = 0.031). In conclusion, prenatal detection of CCHD among newborns presenting for cardiac intervention appeared to have improved during the pandemic period.

Surveillance of adults with congenital heart disease: Current guidelines and actual clinical practice.

BACKGROUND AND AIM: Congenital heart disease (CHD) is the most common birth defect with prevalence of 0.8%. Thanks to tremendous progress in medical and surgical practice, nowadays, >90% of children survive into adulthood. Recently European Society of Cardiology (ESC), American College of Cardiology (ACC)/ American Heart Association (AHA) issued guidelines which offer diagnostic and therapeutic recommendations for the different defect categories. However, the type of technical exams and their frequency of follow-up may vary largely between clinicians and centres. We aimed to present an overview of available diagnostic modalities and describe current surveillance practices by cardiologists taking care of adults with CHD (ACHD). METHODS AND RESULTS: A questionnaire was used to assess the frequency cardiologists treating ACHD for at least one year administrated the most common diagnostic tests for ACHD. The most frequently employed diagnostic modalities were ECG and echocardiography for both mild and moderate/severe CHD. Sixty-seven percent of respondents reported that they routinely address psychosocial well-being. CONCLUSION: Differences exist between reported current clinical practice and published guidelines. This is particularly true for the care of patients with mild lesions. In addition, some differences exist between ESC and American guidelines, with more frequent surveillance suggested by the Americans.

Quadricuspid Aortic Valve: Imaging, Diagnosis, and Prognosis.

Quadricuspid aortic valve is a rare congenital cardiac anomaly with an incidence of 0.008% to 0.043%. Its clinical course varies depending on cusp anatomy, function, and associated cardiac malformations. It frequently progresses to aortic valve regurgitation that may require surgical valve replacement. Detection has shifted from incidental discovery during autopsies or cardiac surgeries in the early 20th century to various cardiac imaging methods in recent decades. In addition to contributing to the literature, this report supports the use of transesophageal echocardiography more liberally to detect aortic valve abnormalities. The case presents a 48-year-old female patient with an incidentally discovered quadricuspid aortic valve.

PATHFINDER-CHD: prospective registry on adults with congenital heart disease, abnormal ventricular function, and/or heart failure as a foundation for establishing rehabilitative, prehabilitative, preventive, and health-promoting measures: rationale, aims, design and methods.

BACKGROUND: Adults with congenital heart defects (ACHD) globally constitute a notably medically underserved patient population. Despite therapeutic advancements, these individuals often confront substantial physical and psychosocial residua or sequelae, requiring specialized, integrative cardiological care throughout their lifespan. Heart failure (HF) is a critical challenge in this population, markedly impacting morbidity and mortality. AIMS: The primary aim of this study is to establish a comprehensive, prospective registry to enhance understanding and management of HF in ACHD. Named PATHFINDER-CHD, this registry aims to establish foundational data for treatment strategies as well as the development of rehabilitative, prehabilitative, preventive, and health-promoting interventions, ultimately aiming to mitigate the elevated morbidity and mortality rates associated with congenital heart defects (CHD). METHODS: This multicenter survey will be conducted across various German university facilities with expertise in ACHD. Data collection will encompass real-world treatment scenarios and clinical trajectories in ACHD with manifest HF or at risk for its development, including those undergoing medical or interventional cardiac therapies, cardiac surgery, inclusive of pacemaker or ICD implantation, resynchronization therapy, assist devices, and those on solid organ transplantation. DESIGN: The study adopts an observational, exploratory design, prospectively gathering data from participating centers, with a focus on patient management and outcomes. The study is non-confirmatory, aiming to accumulate a broad spectrum of data to inform future hypotheses and studies. PROCESSES: Regular follow-ups will be conducted, systematically collecting data during routine clinical visits or hospital admissions, encompassing alterations in therapy or CHD-related complications, with visit schedules tailored to individual clinical needs. ASSESSMENTS: Baseline assessments and regular follow-ups will entail comprehensive assessments of medical history, ongoing treatments, and outcomes, with a focus on HF symptoms, cardiac function, and overall health status. DISCUSSION OF THE DESIGN: The design of the PATHFINDER-CHD Registry is tailored to capture a wide range of data, prioritizing real-world HF management in ACHD. Its prospective nature facilitates longitudinal data acquisition, pivotal for comprehending for disease progression and treatment impacts. CONCLUSION: The PATHFINDER-CHD Registry is poised to offer valuable insights into HF management in ACHD, bridging current knowledge gaps, enhancing patient care, and shaping future research endeavors in this domain.

Fetal Hemodynamics, Early Survival, and Neurodevelopment in Patients With Cyanotic Congenital Heart Disease.

BACKGROUND: Fetuses with cyanotic congenital heart disease (CHD) exhibit profound fetal circulatory disturbances that may affect early outcomes. OBJECTIVES: This study sought to investigate the relationship between fetal hemodynamics and early survival and neurodevelopmental (ND) outcomes in patients with cyanotic CHD. METHODS: In this longitudinal observational study, fetuses with cyanotic CHD underwent late gestational fetal cardiovascular magnetic resonance (CMR) to measure vessel blood flow and oxygen content. Superior vena cava (SVC) flow was used as a proxy for cerebral blood flow. Primary outcomes were 18-month mortality and Bayley Scales of Infant Development-III assessment. RESULTS: A total of 144 fetuses with cyanotic CHD were assessed. By 18 months, 18 patients (12.5%) died. Early mortality was associated with reduced combined ventricular output (P = 0.01), descending aortic flow (P = 0.04), and umbilical vein flow (P = 0.03). Of the surviving patients, 71 had ND outcomes assessed. Cerebral oxygen delivery was the fetal hemodynamic variable most strongly associated with cognitive, language, and motor outcomes (P < 0.05). Fetal SVC flow was also associated with cognitive, language, and motor outcomes (P < 0.01), and it remained an independent predictor of cognitive (P = 0.002) and language (P = 0.04) outcomes after adjusting for diagnosis. Diminished SVC flow also performed better than other fetal CMR and echocardiographic predictors of cognitive ND delay (receiver-operating characteristic curve area: 0.85; SE 0.05). CONCLUSIONS: Among fetuses with cyanotic CHD, diminished fetal combined ventricular output is associated with mortality, whereas cerebral blood flow and oxygen delivery are associated with early cognitive, language, and motor development at 18 months of age. These results support the inclusion of fetal CMR to help identify patients at risk of adverse ND outcomes.

Time to childbirth and assisted reproductive treatment in women with congenital heart disease.

OBJECTIVE: To investigate the time to first childbirth and to compare the prevalence of assisted reproductive treatment (ART) in women with congenital heart disease (CHD) compared with women without CHD. METHODS: All women in the national register for CHD who had a registered first childbirth in the Swedish Pregnancy Register between 2014 and 2019 were identified. These individuals (cases) were matched by birth year and municipality to women without CHD (controls) in a 1:5 ratio. The time from the 18th birthday to the first childbirth and the prevalence of ART was compared between cases and controls. RESULTS: 830 first childbirths in cases were identified and compared with 4137 controls. Cases were slightly older at the time for first childbirth (28.9 vs 28.5 years, p=0.04) and ART was more common (6.1% vs 4.0%, p<0.01) compared with controls. There were no differences in ART when stratifying for the complexity of CHD. For all women, higher age was associated with ART treatment (OR 1.24, 95% CI 1.20 to 1.28). CONCLUSIONS: Women with and without CHD who gave birth to a first child did so at similar ages. ART was more common in women with CHD, but disease severity did not influence the need for ART. Age was an important risk factor for ART also in women with CHD and should be considered in consultations with these patients.

Congenital cardiac anomalies in non-syndromic cleft lip and cleft palate patients: A systematic review and meta-analysis.

The aim was to establish a specific and definite connection between non-syndromic orofacial cleft patients and associated congenital heart disease (CHD). Following PRISMA guidelines, selective databases were searched for data collection. Studies showing a definite association of CHD with orofacial cleft were included, and studies non-specific of the association of orofacial cleft with CHD were excluded. Data extraction criteria were study design, frequency of CHD in overall non-syndromic orofacial cleft and in specific cleft type, and most prevalent congenital cardiac anomaly. DerSimonian Laird random effects model was used to estimate the pooled proportion of CHD, along with corresponding 95% confidence intervals (CIs) for each measure. Publication bias was assessed using Fail-Safe N analysis and the Rosenthel approach. Of a total of 182 articles searched, only 30 studies were assessed. The overall pooled estimate of the proportion of CHD in total cleft lips/palates was 16% (95% CI: 13-19). The odds of developing CHD in cleft palates was 4.08 times more as compared to cleft lips with 95% CIs of 3.86-4.33, and 1.65 more as compared to cleft lips and palates both with 95% CI of 1.52-1.68. We affirm the upsurging prevalence of CHD in non-syndromic cleft children and vehemently propose that it is of utmost importance to inculcate it in practice and policy-making to screen all non-syndromic orofacial cleft children for congenital cardiac anomaly. This study was registered on PROSPERO (ID no. CRD42023391597) on February 24, 2023.

Advancing Wearable Biosensors for Congenital Heart Disease: Patient and Clinician Perspectives: A Science Advisory From the American Heart Association.

Wearable biosensors (wearables) enable continual, noninvasive physiologic and behavioral monitoring at home for those with pediatric or congenital heart disease. Wearables allow patients to access their personal data and monitor their health. Despite substantial technologic advances in recent years, issues with hardware design, data analysis, and integration into the clinical workflow prevent wearables from reaching their potential in high-risk congenital heart disease populations. This science advisory reviews the use of wearables in patients with congenital heart disease, how to improve these technologies for clinicians and patients, and ethical and regulatory considerations. Challenges related to the use of wearables are common to every clinical setting, but specific topics for consideration in congenital heart disease are highlighted.

Simpson-Golabi-Behmel syndrome type 1 with normal birth parameters.

A newborn baby born at 34 weeks and 5 days gestation was admitted for prematurity, dysmorphic features and congenital heart defects. Antenatal scan at 21 weeks showed a large-for-gestational-age foetus with a large abdominal circumference and liver, ventricular septal defect, right prominent renal pelvis and echogenic bowel. Antenatal genetic tests for overgrowth syndromes were negative. The mother had early onset pre-eclampsia. After birth, an overgrowth syndrome was still suspected despite the baby having normal birth parameters. Raw data of the trio whole exome sequencing from the amniocentesis sample were manually inspected. Hemizygous exon 7 deletion in the GPC3 gene was found, and a postnatal diagnosis of Simpson-Golabi-Behmel syndrome, a rare overgrowth syndrome, was made. This case report discusses the significance of antenatal findings, an atypical presentation of a rare syndrome and the obstacles of diagnostic genetic testing.

Cardiac evaluation in pregnant patients with dyspnea and palpitations.

BACKGROUND: Symptoms of underlying cardiac disease in pregnancy can often be mistaken for common complaints because of normal physiological changes in pregnancy. Echocardiographic evaluation of patients with symptoms of palpitations and dyspnea can detect structural changes and identify high-risk features. OBJECTIVE: This study aimed to examine transthoracic echocardiograms of perinatal individuals completed for palpitations or dyspnea to determine the frequency of identifying structural changes. STUDY DESIGN: This was a retrospective cohort study of all perinatal individuals with a transthoracic echocardiogram at a single academic center between October 1, 2017, and May 1, 2022. The indication for the echocardiogram, demographics, and clinical characteristics were recorded. Transthoracic echocardiograms with any abnormal findings noted in the transthoracic echocardiogram report were reviewed and categorized into findings of congenital heart disease, valvular disease, pericardial effusion, evidence of ischemia or wall motion abnormalities, abnormal diastolic or systolic function, and other. RESULTS: Of 539 transthoracic echocardiograms completed on 478 individuals who were pregnant or in the 12-week postpartum period, 96 (17.8%) had an indication of palpitations, and 32 (5.9%) had an indication of dyspnea. Abnormal findings were seen in 21.9% of patients with palpitations and in 34.4% of patients with dyspnea. In patients with palpitations who had abnormal findings, 33.3% had congenital heart disease; 33.3% had mild valvular disease, including mitral valve prolapse; 19.0% had a pericardial effusion; and 14.3% had evidence of ischemia or wall motion defects. Abnormal transthoracic echocardiogram findings in the dyspnea cohort included ischemia or wall motion defects (27.3%), mild valvular disease or mitral valve prolapse (36.4%), and abnormal systolic or diastolic function (36.4%). CONCLUSION: Many of the transthoracic echocardiograms completed for patients with dyspnea or palpitations identified no structural abnormality; however, in 1 of 3 to 1 of 4 patients, underlying structural heart disease was identified. Although some of these abnormalities were unlikely to change delivery plans, such as mild valvular disease or small effusions, other abnormalities, such as ischemia, congenital abnormalities, and abnormal systolic or diastolic function, were likely to have implications for pregnancy and postpartum management.

Epidemiology and Definition of Heart Failure in Adult Congenital Heart Disease.

Adults with congenital heart disease (ACHD) are facing lifelong complications, notably heart failure (HF). This review focuses on classifications, incidence, prevalence, and mortality of HF related to ACHD. Diagnosing HF in ACHD is intricate due to anatomic variations, necessitating comprehensive clinical evaluations. Hospitalizations and resource consumption for ACHD HF have significantly risen compared with non-ACHD HF patients. With more than 30% prevalence in complex cases, HF has become the leading cause of death in ACHD. These alarming trends underscore the insufficient understanding of ACHD-related HF manifestations and management challenges within the context of aging, complexity, and comorbidity.