Impact of Appropriate Use Criteria for Cross-Sectional Imaging on Medical Decision-Making in Patients with Conotruncal Defects.

Associations between Appropriate Use Criteria (AUC) ratings and medical decision-making in congenital heart disease are not well-established. We applied the 2020 AUC for multimodality imaging in follow-up care of pediatric and young adult patients with conotruncal defects to evaluate appropriateness of cardiac magnetic resonance (CMR) and computed tomography (CCT) use in this population and impact on clinical decision-making. Records were reviewed and assigned AUC indications and corresponding ratings for CMR and CCT. We examined the relationship between AUC indications, their ratings, and change in management. Of the 200 studies (133 CMR, 67 CCT) performed on 187 patients, no studies were rated Rarely Appropriate (R), and most studies were obtained for routine follow-up (151/200 [75.5%]) and were not prompted by clinical concerns. There were 70/200 (35.0%) studies which led to management changes; these included transcatheter intervention (29/70 [41.4%]), surgical intervention (25/70 [35.7%]), other interventions (10/70 [14.3%]), and medical intervention (6/70 [8.6%]). Among all studies, studies prompted by clinical concerns and studies rated M more frequently resulted in change in management (46.9 vs 31.1%, p = 0.04 and 54.1 vs 30.7%, p = 0.003, respectively). In conclusion, we found that all studies were ordered for indications rated Appropriate (A) or May be Appropriate (M), indicating compliance in ordering practices as outlined by published AUC. Studies ordered for clinical change or rated M more frequently led to management change in patient care. Findings may help inform provider expectations of testing yield in this population and serve as a platform for development of future iterations of AUC.

Design of a multi-institutional neurocognitive discovery study in adult congenital heart disease (MINDS-ACHD).

BACKGROUND: Neurocognitive dysfunction (NCD) is a common comorbidity among children with congenital heart disease (CHD). However, it is unclear how underlying CHD and its sequelae combine with genetics and acquired cardiovascular and neurological disease to impact NCD and outcomes across the lifespan in adults with CHD. METHODS: The Multi-Institutional Neurocognitive Discovery Study in Adults with Congenital Heart Disease (MINDS-ACHD) is a partnership between the Pediatric Heart Network (PHN) and the Adult Alliance for Research in Congenital Cardiology (AARCC) that examines objective and subjective neurocognitive function and genetics in young ACHD. This multicenter cross-sectional pilot study is enrolling 500 young adults between 18 and 30 years with moderate or severe complexity CHD at 14 centers in North America. Enrollment includes 4 groups (125 participants each): (1) d-looped Transposition of the Great Arteries (d-TGA); (2) Tetralogy of Fallot (TOF); (3) single ventricle (SV) physiology; and (4) "other moderately or severely complex CHD." Participants complete the standardized tests from the NIH Toolbox Cognitive Battery, the NeuroQoL, the Hospital Anxiety and Depression Scale, and the PROMIS Global QoL measure. Clinical and demographic variables are collected by interview and medical record review, and an optional biospecimen is collected for genetic analysis. Due to the COVID-19 pandemic, participation may be done remotely. Tests are reviewed by a Neurocognitive Core Laboratory. CONCLUSIONS: MINDS-ACHD is the largest study to date characterizing NCD in young adults with moderate or severely complex CHD in North America. Its results will provide valuable data to inform screening and management strategies for NCD in ACHD and improve lifelong care.

Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency.

Agammaglobulinemia is the most profound primary antibody deficiency that can occur due to an early termination of B-cell development. We here investigated 3 novel patients, including the first known adult, from unrelated families with agammaglobulinemia, recurrent infections, and hypertrophic cardiomyopathy (HCM). Two of them also presented with intermittent or severe chronic neutropenia. We identified homozygous or compound-heterozygous variants in the gene for folliculin interacting protein 1 (FNIP1), leading to loss of the FNIP1 protein. B-cell metabolism, including mitochondrial numbers and activity and phosphatidylinositol 3-kinase/AKT pathway, was impaired. These defects recapitulated the Fnip1-/- animal model. Moreover, we identified either uniparental disomy or copy-number variants (CNVs) in 2 patients, expanding the variant spectrum of this novel inborn error of immunity. The results indicate that FNIP1 deficiency can be caused by complex genetic mechanisms and support the clinical utility of exome sequencing and CNV analysis in patients with broad phenotypes, including agammaglobulinemia and HCM. FNIP1 deficiency is a novel inborn error of immunity characterized by early and severe B-cell development defect, agammaglobulinemia, variable neutropenia, and HCM. Our findings elucidate a functional and relevant role of FNIP1 in B-cell development and metabolism and potentially neutrophil activity.

A Multisite Retrospective Review of Direct Oral Anticoagulants Compared to Warfarin in Adult Fontan Patients.

PURPOSE: Direct oral anticoagulants (DOACs) are not recommended in adult Fontan patients (Level of Evidence C). We hypothesized that DOACs are comparable to warfarin and do not increase thrombotic and embolic complications (TEs) or clinically significant bleeds. METHODS: We reviewed the medical records of adult Fontan patients on DOACs or warfarin at three major medical centers. We identified 130 patients: 48 on DOACs and 107 on warfarin. In total, they were treated for 810 months on DOACs and 5637 months on warfarin. RESULTS: The incidence of TEs in patients on DOACs compared to those on warfarin was not increased in a statistically significant way (hazard ratio [HR] 1.7 and p value 0.431). Similarly, the incidence of nonmajor and major bleeds in patients on DOACs compared to those on warfarin was also not increased in a statistically significant way (HR for nonmajor bleeds in DOAC patients was 2.8 with a p value of 0.167 and the HR for major bleeds was 2.0 with a p value 0.267). In multivariate analysis, congestive heart failure (CHF) was a risk factor for TEs across both groups (odds ratio [OR] = 4.8, 95% confidence interval [CI] = 1.3-17.6) and bleed history was a risk factor for clinically significant bleeds (OR = 6.8, 95% CI = 2.7-17.2). CONCLUSION: In this small, retrospective multicenter study, the use of DOACs did not increase the risk of TEs or clinically significant bleeds compared to warfarin in a statistically significant way.

Health Care Transition Perceptions Among Parents of Adolescents with Congenital Heart Defects in Georgia and New York.

With increasing survival trends for children and adolescents with congenital heart defects (CHD), there is a growing need to focus on transition from pediatric to adult specialty cardiac care. To better understand parental perspectives on the transition process, a survey was distributed to 451 parents of adolescents with CHD who had recent contact with the healthcare system in Georgia (GA) and New York (NY). Among respondents, 90.7% reported excellent, very good or good health-related quality of life (HRQoL) for their adolescent. While the majority of parents (77.8%) had been told by a provider about their adolescent's need to transition to adult specialty cardiac care, most reported concerns about transitioning to adult care. Parents were most commonly concerned with replacing the strong relationship with pediatric providers (60.7%), locating an appropriate adult provider (48.7%), and accessing adult health insurance coverage (43.6%). These findings may offer insights into transition planning for adolescents with CHD.

Predicting 30-day readmission after congenital heart surgery across the lifespan.

INTRODUCTION: Hospital readmission is an important driver of costs among patients with CHD. We assessed predictors of 30-day rehospitalisation following cardiac surgery in CHD patients across the lifespan. METHODS: This was a retrospective analysis of 981 patients with CHD who had cardiac surgery between January 2011 and December 2012. A multivariate logistic regression model was used to identify demographic, clinical, and surgical predictors of 30-day readmission. Receiver operating curves derived from multivariate logistic modelling were utilised to discriminate between patients who were readmitted and not-readmitted at 30 days. Model goodness of fit was assessed using the Hosmer-Lemeshow test statistic. RESULTS: Readmission in the 30 days following congenital heart surgery is common (14.0%). Among 981 patients risk factors associated with increased odds of 30-day readmission after congenital heart surgery through multivariate analysis included a history of previous cardiac surgery (p < 0.001), longer post-operative length of stay (p < 0.001), as well as nutritional (p < 0.001), haematologic (p < 0.02), and endocrine (p = 0.04) co-morbidities. Patients who underwent septal defect repair had reduced odds of readmission (p < 0.001), as did children (p = 0.04) and adult (p = 0.005) patients relative to neonates. CONCLUSION: Risk factors for readmission include a history of cardiac surgery, longer length of stay, and co-morbid conditions. This information may serve to guide efforts to prevent readmission and inform resource allocation in the transition of care to the outpatient setting. This study also demonstrated the feasibility of linking a national subspecialty registry to a clinical and administrative data repository to follow longitudinal outcomes of interest.

Superior Mesenteric Arterial Flow Pattern is Associated with Major Adverse Events in Adults with Fontan Circulation.

Factors contributing to the failure of Fontan circulation in adults are poorly understood. Reduced superior mesenteric arterial (SMA) flow has been identified in pediatric Fontan patients with protein-losing enteropathy. SMA flow has not been profiled in an adult Fontan population and its association with adverse events is unknown. We aimed to examine associations between SMA flow patterns and adverse events in adult Fontan patients. We performed a retrospective review of adult Fontan patients who underwent echocardiograms between 2008 and 2014. SMA Doppler data included peak systolic and end-diastolic velocity and velocity time integral (VTI). Systolic/diastolic (S/D) ratio and resistive index were calculated. The relationship between SMA flow parameters and major adverse events (death or transplantation) was examined using proportional hazard Cox regression analyses. Kaplan-Meyer analysis was conducted to construct survival curve of patients with and without adverse events. 91 post-Fontan adult patients (76 % systemic left ventricle, 20 % atriopulmonary Fontan, mean age 27.9 years) were analyzed. Adverse events occurred in nine patients (death = 4, transplant = 5). When compared with the non-event group, the event group had increased end-diastolic velocity [hazard ratio (HR) 1.5, 95 % confidence interval (CI) 1.1-1.8; p = 0.002], increased systolic VTI (HR 1.5, 95 % CI 1.1-2.2, p = 0.02), increased diastolic VTI (HR 1.7, 95 % CI 1.2-2.4, p = 0.004), decreased S/D velocity ratio (HR 0.32, 95 % CI 0.14-0.71, p = 0.006), decreased S/D VTI ratio (HR 0.76, 95 % CI 0.61-0.97, p = 0.02), and decreased resistive index (HR 0.29, 95 % CI 0.14-0.60, p = 0.0007). Increased end-diastolic velocity and VTI in mesenteric arterial flow, with lower systolic/diastolic ratio and resistive index, were associated with death and need for heart transplant in adult Fontan patients. The mesenteric hyperemic flow was also associated with clinical signs of portal venous outflow obstruction, suggesting the presence of vasodilatory state in end-stage adult Fontan circulation.

Immunologic Aging in Adults with Congenital Heart Disease: Does Infant Sternotomy Matter?

Thymectomy is performed routinely in infants undergoing cardiothoracic surgery. Children post-sternotomy have decreased numbers of T lymphocytes, although the mechanisms involved and long-term consequences of this have not been defined. We hypothesized that lymphopenia in patients with adult congenital heart disease (ACHD) would be reflective of premature T cell maturation and exhaustion. Adults with ACHD who had sternotomy to repair congenital heart disease as infants (<1 year) and age-matched ACHD patients without prior sternotomy were studied using polychromatic flow cytometry interrogating markers of lymphocyte maturation, exhaustion and senescence. Group differences were analyzed using Mann-Whitney U and Fisher's exact tests. Eighteen ACHD patients aged 21-40 years participated: 10 cases and 8 controls. Median age at sternotomy for cases was 52 days. Cases and controls were matched for age (28.9 vs. 29.1 years; p = 0.83), gender (p = 0.15) and race (p = 0.62) and had similar case complexity. Cases had a lower mean percentage of cytotoxic CD8 lymphocytes compared to controls (26.8 vs. 33.9 %; p = 0.016), with fewer naive, undifferentiated CD8 T cells (31.0 vs. 53.6 %; p = 0.027). CD8 cells expressing PD1, a marker of immune exhaustion, trended higher in cases versus controls (25.6 vs. 19.0 %; p = 0.083). Mean percentage of CD4 cells was higher in cases versus controls (65.6 vs. 59.6 %; p = 0.027), without differences in CD4 T cell maturation subtype. In summary, ACHD patients who undergo sternotomy as infants exhibit differences in T lymphocyte composition compared to ACHD controls, suggesting accelerated immunologic exhaustion. Investigation is warranted to assess the progressive nature and clinical impact of this immune phenotypic change.

The epidemiology of heart failure in adults with congenital heart disease.

The impact of lifelong exposure to myocardial dysfunction in populations with congenital heart disease (CHD) is becoming increasingly recognized. Most children born with CHD now reach adulthood and the long-term sequelae of treatment are contributing to substantial comorbidity. The combination of structural changes present at birth with changes resulting from cardiac surgery can result in heart failure. This article reports on the current state of knowledge on the epidemiology of heart failure in this patient population.

Racial and Ethnic Disparities in Health Care Usage and Death by Neighborhood Poverty Among Individuals With Congenital Heart Defects, 4 US Surveillance Sites, 2011 to 2013.

BACKGROUND: Socioeconomic factors may lead to a disproportionate impact on health care usage and death among individuals with congenital heart defects (CHD) by race, ethnicity, and socioeconomic factors. How neighborhood poverty affects racial and ethnic disparities in health care usage and death among individuals with CHD across the life span is not well described. METHODS AND RESULTS: Individuals aged 1 to 64 years, with at least 1 CHD-related International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) code were identified from health care encounters between January 1, 2011, and December 31, 2013, from 4 US sites. Residence was classified into lower- or higher-poverty neighborhoods on the basis of zip code tabulation area from the 2014 American Community Survey 5-year estimates. Multivariable logistic regression models, adjusting for site, sex, CHD anatomic severity, and insurance-evaluated associations between race and ethnicity, and health care usage and death, stratified by neighborhood poverty. Of 31 542 individuals, 22.2% were non-Hispanic Black and 17.0% Hispanic. In high-poverty neighborhoods, non-Hispanic Black (44.4%) and Hispanic (47.7%) individuals, respectively, were more likely to be hospitalized (adjusted odds ratio [aOR], 1.2 [95% CI, 1.1-1.3]; and aOR, 1.3 [95% CI, 1.2-1.5]) and have emergency department visits (aOR, 1.3 [95% CI, 1.2-1.5] and aOR, 1.8 [95% CI, 1.5-2.0]) compared with non-Hispanic White individuals. In high poverty neighborhoods, non-Hispanic Black individuals with CHD had 1.7 times the odds of death compared with non-Hispanic White individuals in high-poverty neighborhoods (95% CI, 1.1-2.7). Racial and ethnic disparities in health care usage were similar in low-poverty neighborhoods, but disparities in death were attenuated (aOR for non-Hispanic Black, 1.2 [95% CI=0.9-1.7]). CONCLUSIONS: Racial and ethnic disparities in health care usage were found among individuals with CHD in low- and high-poverty neighborhoods, but mortality disparities were larger in high-poverty neighborhoods. Understanding individual- and community-level social determinants of health, including access to health care, may help address racial and ethnic inequities in health care usage and death among individuals with CHD.

Transcatheter Pulmonary Valve Replacement in Middle and Late Adulthood.

Transcatheter pulmonary valve replacement (TPVR) is now frequently performed in patients with adult congenital heart disease. As the life expectancy of the population with adult congenital heart disease continues to improve, more patients will require pulmonary valve intervention. This study details the short-term and midterm clinical outcomes of patients aged ≥40 years who underwent TPVR. We performed an institutional retrospective cohort study that included patients aged ≥40 years who underwent TPVR (and clinical follow-up) from January 1, 2012 to January 1, 2024. Descriptive analyses, Kaplan-Meier survival analysis, and Cox proportional hazard modeling were used to determine outcomes and risk factors affecting survival. The study included 67 patients, and median age at TPVR was 48 years (43 to 57). Median hospital length of stay after TPVR was 1 day (1 to 3); periprocedural complications occurred in 5 patients, and acute kidney injury occurred in 1 patient. Median duration of follow-up was 3.5 years (0.1 to 9.7). There were 9 total deaths, and 1-, 3-, and 5-year Kaplan-Meier survival after TPVR was 95%, 91%, and 82%, respectively. Moderate or worse right ventricular dysfunction was present in 22 patients before TPVR and in 20 patients after TPVR. Inpatient status before TPVR negatively affected survival (hazard ratio 24.7, 3.3 to 186.1, p = 0.002). In conclusion, TPVR was performed in patients aged ≥40 years with favorable periprocedural and midterm follow-up outcomes including survival, but right ventricular dysfunction did not improve, and further exploration of the ideal timing of TPVR in this age group is warranted.

A machine learning model for predicting congenital heart defects from administrative data.

INTRODUCTION: International Classification of Diseases (ICD) codes recorded in administrative data are often used to identify congenital heart defects (CHD). However, these codes may inaccurately identify true positive (TP) CHD individuals. CHD surveillance could be strengthened by accurate CHD identification in administrative records using machine learning (ML) algorithms. METHODS: To identify features relevant to accurate CHD identification, traditional ML models were applied to a validated dataset of 779 patients; encounter level data, including ICD-9-CM and CPT codes, from 2011 to 2013 at four US sites were utilized. Five-fold cross-validation determined overlapping important features that best predicted TP CHD individuals. Median values and 95% confidence intervals (CIs) of area under the receiver operating curve, positive predictive value (PPV), negative predictive value, sensitivity, specificity, and F1-score were compared across four ML models: Logistic Regression, Gaussian Naive Bayes, Random Forest, and eXtreme Gradient Boosting (XGBoost). RESULTS: Baseline PPV was 76.5% from expert clinician validation of ICD-9-CM CHD-related codes. Feature selection for ML decreased 7138 features to 10 that best predicted TP CHD cases. During training and testing, XGBoost performed the best in median accuracy (F1-score) and PPV, 0.84 (95% CI: 0.76, 0.91) and 0.94 (95% CI: 0.91, 0.96), respectively. When applied to the entire dataset, XGBoost revealed a median PPV of 0.94 (95% CI: 0.94, 0.95). CONCLUSIONS: Applying ML algorithms improved the accuracy of identifying TP CHD cases in comparison to ICD codes alone. Use of this technique to identify CHD cases would improve generalizability of results obtained from large datasets to the CHD patient population, enhancing public health surveillance efforts.

Supervised Text Classification System Detects Fontan Patients in Electronic Records With Higher Accuracy Than ICD Codes.

Background The Fontan operation is associated with significant morbidity and premature mortality. Fontan cases cannot always be identified by International Classification of Diseases (ICD) codes, making it challenging to create large Fontan patient cohorts. We sought to develop natural language processing-based machine learning models to automatically detect Fontan cases from free texts in electronic health records, and compare their performances with ICD code-based classification. Methods and Results We included free-text notes of 10 935 manually validated patients, 778 (7.1%) Fontan and 10 157 (92.9%) non-Fontan, from 2 health care systems. Using 80% of the patient data, we trained and optimized multiple machine learning models, support vector machines and 2 versions of RoBERTa (a robustly optimized transformer-based model for language understanding), for automatically identifying Fontan cases based on notes. For RoBERTa, we implemented a novel sliding window strategy to overcome its length limit. We evaluated the machine learning models and ICD code-based classification on 20% of the held-out patient data using the F1 score metric. The ICD classification model, support vector machine, and RoBERTa achieved F1 scores of 0.81 (95% CI, 0.79-0.83), 0.95 (95% CI, 0.92-0.97), and 0.89 (95% CI, 0.88-0.85) for the positive (Fontan) class, respectively. Support vector machines obtained the best performance (P<0.05), and both natural language processing models outperformed ICD code-based classification (P<0.05). The sliding window strategy improved performance over the base model (P<0.05) but did not outperform support vector machines. ICD code-based classification produced more false positives. Conclusions Natural language processing models can automatically detect Fontan patients based on clinical notes with higher accuracy than ICD codes, and the former demonstrated the possibility of further improvement.

Positive Predictive Value of International Classification of Diseases, Ninth Revision, Clinical Modification, and International Classification of Diseases, Tenth Revision, Clinical Modification, Codes for Identification of Congenital Heart Defects.

Background Administrative data permit analysis of large cohorts but rely on International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM), and International Classification of Diseases, Tenth Revision, Clinical Modification (ICD-10-CM) codes that may not reflect true congenital heart defects (CHDs). Methods and Results CHDs in 1497 cases with at least 1 encounter between January 1, 2010 and December 31, 2019 in 2 health care systems, identified by at least 1 of 87 ICD-9-CM/ICD-10-CM CHD codes were validated through medical record review for the presence of CHD and CHD native anatomy. Interobserver and intraobserver reliability averaged >95%. Positive predictive value (PPV) of ICD-9-CM/ICD-10-CM codes for CHD was 68.1% (1020/1497) overall, 94.6% (123/130) for cases identified in both health care systems, 95.8% (249/260) for severe codes, 52.6% (370/703) for shunt codes, 75.9% (243/320) for valve codes, 73.5% (119/162) for shunt and valve codes, and 75.0% (39/52) for "other CHD" (7 ICD-9-CM/ICD-10-CM codes). PPV for cases with >1 unique CHD code was 85.4% (503/589) versus 56.3% (498/884) for 1 CHD code. Of cases with secundum atrial septal defect ICD-9-CM/ICD-10-CM codes 745.5/Q21.1 in isolation, PPV was 30.9% (123/398). Patent foramen ovale was present in 66.2% (316/477) of false positives. True positives had younger mean age at first encounter with a CHD code than false positives (22.4 versus 26.3 years; P=0.0017). Conclusions CHD ICD-9-CM/ICD-10-CM codes have modest PPV and may not represent true CHD cases. PPV was improved by selecting certain features, but most true cases did not have these characteristics. The development of algorithms to improve accuracy may improve accuracy of electronic health records for CHD surveillance.

COVID-19-Related Thrombotic and Bleeding Events in Adults With Congenital Heart Disease.

Background: Altered coagulation is a striking feature of COVID-19. Adult patients with congenital heart disease (ACHD) are prone to thromboembolic (TE) and bleeding complications. Objectives: The purpose of this study was to investigate the prevalence and risk factors for COVID-19 TE/bleeding complications in ACHD patients. Methods: COVID-19-positive ACHD patients were included between May 2020 and November 2021. TE events included ischemic cerebrovascular accident, systemic and pulmonary embolism, deep venous thrombosis, myocardial infarction, and intracardiac thrombosis. Major bleeding included cases with hemoglobin drop >2 g/dl, involvement of critical sites, or fatal bleeding. Severe infection was defined as need for intensive care unit, endotracheal intubation, renal replacement therapy, extracorporeal membrane oxygenation, or death. Patients with TE/bleeding were compared to those without events. Factors associated with TE/bleeding were determined using logistic regression. Results: Of 1,988 patients (age 32 [IQR: 25-42] years, 47% male, 59 ACHD centers), 30 (1.5%) had significant TE/bleeding: 12 TE events, 12 major bleeds, and 6 with both TE and bleeding. Patients with TE/bleeding had higher in-hospital mortality compared to the remainder cohort (33% vs 1.7%; P < 0.0001) and were in more advanced physiological stage (P = 0.032) and NYHA functional class (P = 0.01), had lower baseline oxygen saturation (P = 0.0001), and more frequently had a history of atrial arrhythmia (P < 0.0001), previous hospitalization for heart failure (P < 0.0007), and were more likely hospitalized for COVID-19 (P < 0.0001). By multivariable logistic regression, prior anticoagulation (OR: 4.92; 95% CI: 2-11.76; P = 0.0003), cardiac injury (OR: 5.34; 95% CI: 1.98-14.76; P = 0.0009), and severe COVID-19 (OR: 17.39; 95% CI: 6.67-45.32; P < 0.0001) were independently associated with increased risk of TE/bleeding complications. Conclusions: ACHD patients with TE/bleeding during COVID-19 infection have a higher in-hospital mortality from the illness. Risk of coagulation disorders is related to severe COVID-19, cardiac injury during infection, and use of anticoagulants.

Identifying arrhythmias in adults with congenital heart disease by 24-h ambulatory electrocardiography.

Adults with congenital heart disease (CHD) are at risk for the development of arrhythmias. This study aimed to assess the incidence of unsuspected arrhythmias among adults with CHD identified on electrocardiograms (ECGs) and 24-h ambulatory electrocardiographic monitoring (Holter monitoring). A review of the cardiology database at the authors' institution from July 2004 through December 2007 identified all clinic patients 18 years old or older who had a recent ECG and Holter monitoring. Data collection included diagnosis, ECG and Holter monitoring results, arrhythmias, and the presence or absence of symptoms. The review identified 140 patients. Analysis of the ECGs showed that 15% of the patients had an arrhythmia. These arrhythmias consisted of ectopy (6%), supraventricular tachycardia (SVT) (3%), pacemaker issues (2%), and previously unrecognized atrioventricular block (AVB) (1%). The majority of the patients with arrhythmias were asymptomatic (76%). Analysis of the Holter monitoring results showed that 31% of the patients had arrhythmias consisting of ectopy (17%), SVT (12%), ventricular tachycardia (7%), high-grade AVB (5%), and pacemaker issues (3%). Of the patients with arrhythmias, 80% were asymptomatic. Among the patients without arrhythmias on ECG, 26% had arrhythmias noted on Holter monitoring. Of the patients with multiple Holter monitorings performed, 34% had a new arrhythmia noted on repeat monitoring. In conclusion, arrhythmias were present in a significant number of adults with CHD, but the majority were asymptomatic. Among adults with CHD, even those with normal ECGs, arrhythmias were frequently detected on Holter monitoring. In addition, repeat Holter monitoring may identify significant arrhythmias over time.

How Well Do ICD-9-CM Codes Predict True Congenital Heart Defects? A Centers for Disease Control and Prevention-Based Multisite Validation Project.

Background The Centers for Disease Control and Prevention's Surveillance of Congenital Heart Defects Across the Lifespan project uses large clinical and administrative databases at sites throughout the United States to understand population-based congenital heart defect (CHD) epidemiology and outcomes. These individual databases are also relied upon for accurate coding of CHD to estimate population prevalence. Methods and Results This validation project assessed a sample of 774 cases from 4 surveillance sites to determine the positive predictive value (PPV) for identifying a true CHD case and classifying CHD anatomic group accurately based on 57 International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) codes. Chi-square tests assessed differences in PPV by CHD severity and age. Overall, PPV was 76.36% (591/774 [95% CI, 73.20-79.31]) for all sites and all CHD-related ICD-9-CM codes. Of patients with a code for complex CHD, 89.85% (177/197 [95% CI, 84.76-93.69]) had CHD; corresponding PPV estimates were 86.73% (170/196 [95% CI, 81.17-91.15]) for shunt, 82.99% (161/194 [95% CI, 76.95-87.99]) for valve, and 44.39% (83/187 [95% CI, 84.76-93.69]) for "Other" CHD anatomic group (X2=142.16, P<0.0001). ICD-9-CM codes had higher PPVs for having CHD in the 3 younger age groups compared with those >64 years of age, (X2=4.23, P<0.0001). Conclusions While CHD ICD-9-CM codes had acceptable PPV (86.54%) (508/587 [95% CI, 83.51-89.20]) for identifying whether a patient has CHD when excluding patients with ICD-9-CM codes for "Other" CHD and code 745.5, further evaluation and algorithm development may help inform and improve accurate identification of CHD in data sets across the CHD ICD-9-CM code groups.

Cardiovascular outcomes of pregnancy in Turner syndrome.

OBJECTIVES: Women with Turner syndrome (TS) are frequently counselled against pregnancy due to lack of data and unclear aortic dissection risk. However, with advances in fertility therapy, more women with TS are contemplating pregnancy. This study compared rates of adverse cardiovascular (CV) outcomes among: (1) pregnant and non-pregnant women with TS and (2) pregnant women with TS with/without structural heart disease. METHODS: Retrospective analysis of pregnant and age-matched non-pregnant controls with TS (2005-2017) across 10 CV centres was done. Data were collected at initial evaluation in pregnancy and outcomes were assessed to 6 months postpartum. Adverse CV events were defined as CV death, aortic dissection/rupture and/or aortic intervention. Non-pregnant age-matched controls were followed over the same time period. RESULTS: Sixty-eight pregnancies were included (60 women, mean age 33 years, 48% primigravid, 49% fertility therapy, 80% structurally normal heart, 25% XO karyotype). Based on American Society of Reproductive Medicine criteria, 10 pregnancies occurred in women stratified to high-risk category. There were no CV events in the pregnant women or in the non-pregnant women with TS. Obstetric events complicated 12 (18%) pregnancies with 9 (13%) attributed to hypertensive disorder of pregnancy. Fetal events included small for gestational age neonates (18%), preterm delivery (15%) and fetal death (3%). CONCLUSIONS: This study helps to refine the approach to pregnancy in women with TS. Among women with TS without structural heart disease, pregnancy does not impose an increased risk of CV outcomes. Among women with TS with structural heart disease, the risk of pregnancy is not as prohibitive as previously described but does require ongoing evaluation.