Deep Phenotypic Analysis for Transposition of the Great Arteries and Prognosis Implication

Background Transposition of the great arteries (TGA) consists of about 3% of all congenital heart diseases and 20% of cyanotic congenital heart diseases. It is always accompanied by a series of other cardiac malformations that affect the surgical intervention strategy as well as prognosis. In this study, we comprehensively analyzed the phenotypes of the patients who had TGA with concordant atrioventricular and discordant ventriculoarterial connections and explored their association with prognosis. Methods and Results We retrospectively reviewed 666 patients with a diagnosis of TGA with concordant atrioventricular and discordant ventriculoarterial connections in Fuwai Hospital from 1997 to 2019. Under the guidance of the Human Phenotype Ontology database, patients were classified into 3 clusters. The Kaplan‐Meier method was used to analyze the prognosis, and the Cox proportional regression model was used to investigate the risk factors. In this 666‐patient TGA cohort, the overall 5‐year survival rate was 94.70% (92.95%–96.49%). Three clusters with distinct phenotypes were obtained by the Human Phenotype Ontology database. Kaplan‐Meier analysis revealed a significant difference in freedom from reintervention among 3 clusters ( P <0.001). To eliminate the effect of surgeries, we analyzed patients who only received an arterial switch operation and still found a significant difference in reintervention ( P =0.019). Conclusions We delineated a big cardiovascular phenotypic profile of an unprecedentedly large TGA cohort and successfully risk stratified them to reveal prognostic significance. Also, we reported the outcomes of a large TGA population in China.

Using Innovative Machine Learning Methods to Screen and Identify Predictors of Congenital Heart Diseases

Objective: Congenital heart diseases (CHDs) are associated with an extremely heavy global disease burden as the most common category of birth defects. Genetic and environmental factors have been identified as risk factors of CHDs previously. However, high volume clinical indicators have never been considered when predicting CHDs. This study aimed to predict the occurrence of CHDs by considering thousands of variables from self-reported questionnaires and routinely collected clinical laboratory data using machine learning algorithms.Methods: We conducted a birth cohort study at one of the largest cardiac centers in China from 2011 to 2017. All fetuses were screened for CHDs using ultrasound and cases were confirmed by at least two pediatric cardiologists using echocardiogram. A total of 1,127 potential predictors were included to predict CHDs. We used the Explainable Boosting Machine (EBM) for prediction and evaluated the model performance using area under the Receive Operating Characteristics (ROC) curves (AUC). The top predictors were selected according to their contributions and predictive values. Thresholds were calculated for the most significant predictors.Results: Overall, 5,390 mother-child pairs were recruited. Our prediction model achieved an AUC of 76% (69-83%) from out-of-sample predictions. Among the top 35 predictors of CHDs we identified, 34 were from clinical laboratory tests and only one was from the questionnaire (abortion history). Total accuracy, sensitivity, and specificity were 0.65, 0.74, and 0.65, respectively. Maternal serum uric acid (UA), glucose, and coagulation levels were the most consistent and significant predictors of CHDs. According to the thresholds of the predictors identified in our study, which did not reach the current clinical diagnosis criteria, elevated UA (&gt;4.38 mg/dl), shortened activated partial thromboplastin time (&lt;33.33 s), and elevated glucose levels were the most important predictors and were associated with ranges of 1.17-1.54 relative risks of CHDs. We have developed an online predictive tool for CHDs based on our findings that may help screening and prevention of CHDs.Conclusions: Maternal UA, glucose, and coagulation levels were the most consistent and significant predictors of CHDs. Thresholds below the current clinical definition of “abnormal” for these predictors could be used to help develop CHD screening and prevention strategies.

Result of airway reconstruction by slide tracheobronchoplasty in children with congenital heart diseases and severe airway stenosis at Hanoi Heart Hospital: A series case report

Congenital airway stenosis (tracheobronchial stenosis) in children is rare, difficult to treat and become more complex when associated with congenital heart defects. In severe airway stenosis, slide tracheobronchoplasty is the most optimal strategy to manage this condition, yet really challenging. We report case series with this combined condition of airway stenosis and congenital heart diseases, which were successfully treated by slide tracheobronchoplasty with concomitant heart repair. We also discuss about the indication, surgical technique as well as postoperative care.

The household economic cost of caregivers: children with congenital heart diseases attending to Pediatric Hospital, Sri Lanka

Introduction Congenital heart disease is the commonest type of birth defect of which the estimated prevalence is around 8–12/1,000 worldwide. Caregivers of children with congenital heart diseases are easy victims of high economic burdens and economic instability. Objective The aim was to describe the household economic cost for a clinic visit, of primary caregivers having children with CHDs who are awaiting cardiac surgery attending a cardiology clinic at a major pediatric hospital in Sri Lanka. Methodology A descriptive cross-sectional study was conducted over three months among 427 samples of caregivers of children with congenital heart diseases at Cardiology clinic, Lady-Ridgeway Hospital Sri Lanka. A consecutive convenient sampling method was used to recruit the participant and economic cost was developed based on previous studies, surveys and opinions of an expert in economics. Results Out of caregivers, 75% were unemployed, and the median income was ₹30,000. The median direct cost per clinic visit was ₹1,800. A large proportion of direct cost was showed in traveling expenses. The median indirect cost was ₹1,000. Of the caregivers, 28.7% were falling into catastrophic expenditure during that particular month of the clinic visit. The mean waiting time per clinic visit was 53 minutes. Statistically significant association found distance with transport cost (Chi-square value = 25.14, df = 1, p & .001, OR = 3.4 (CI: 2.1–5.5). There was no statistically significant association between the income of the caregiver and expenditure (Chi-square value = 0, df = 1, p = .998, OR = 1 (CI: 0.678–1.473). Conclusions Assessment of economic burden and its associated factors is vital to recognize high-risk caregivers early, and improvement of monetary support methods.

Frequency of hypothyroidism after cardiac catheter in infants with congenital heart diseases: A single center prospective study

This study aims to determine the incidence, potential onset and clinical course of hypothyroidism following cardiac catheter (CC) in infants with congenital heart diseases (CHD) and to evaluate the predictors for hypothyroidism in this vulnerable group. This prospective study included 102 patients with CHD, aged ≤ 3 years who underwent CC. Thyroid function tests were assessed before CC, one day, one week, two weeks and four weeks after the procedure. 12% of the studied group showed hypothyroidism four weeks after CC. Univariate analysis revealed that the significant predictors of hypothyroidism following CC are aortic stenosis (RR=10.0 (1.49-66.99), P=0.018), duration of fluoroscopy (RR=1.12 (0.99-1.26), P=0.05), and total cumulative dose of iodinated contrast media (iCM) (RR=1.01 (1.003 -1.01), P=0.019). Multivariate analysis revealed that iCM cumulative dose was the only significant predictor of developing hypothyroidism (RR=1.00 (1.00-1.01), P=0.04). ROC curve analysis showed that the cut-off point of iCM dose for prediction of hypothyroidism evolution is 8.7 gm/kg (26.1 ml/kg), (sensitivity: 83.3%, specificity: 65.1%), while the cut-off point of fluoroscopy duration which predicts development of hypothyroidism is 24 minutes, (sensitivity: 83.3%, specificity: 65.9%). In a median follow-up duration of 20 months, acquired hypothyroidism after CC persists in 5% of this cohort. Conclusion: Exposure to higher dose of iCM and longer duration of fluoroscopy during CC are risk factors for evolution of hypothyroidism. We recommend assessment of thyroid profile 4 weeks after CC particularly in patients who received a dose of iCM higher than 8.7 gm/kg and/or exposed to fluoroscopy for more than 24 minutes.