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Background The Long-ter M O U tcomes after the Multisystem Inflammatory S yndrome I n C hildren (MUSIC) study aims to characterize the frequency and time course of acute and long-term cardiac and non-cardiac sequelae in multisystem inflammatory syndrome in children associated with COVID-19 (MIS-C), which are currently poorly understood. Methods This multicenter observational cohort study will enroll at least 600 patients Conclusion The MUSIC study, with the largest cohort of MIS-C patients and the longest follow-up period to date, will make an important contribution to our understanding of the acute cardiac and non-cardiac manifestations of MIS-C and the long-term effects of this public health emergency.

The Patient Registry for Adolescents and Adults with Stable Fontan Circulation aims to describe a contemporary cohort of Fontan patients who could be eligible for a clinical trial investigating macitentan, an endothelin receptor antagonist. This international, non-interventional, multicentre, cross-sectional, observational registry enrolled patients with “stable” Fontan circulation ≥10 years following extra-cardiac conduit or lateral tunnel procedure. Main exclusion criteria were NYHA functional class IV, reoperation of Fontan circulation, or signs of disease worsening. Patient characteristics at enrolment are described; available data were collected during a single registration visit. Of the 266 screened patients, 254 were included in this analysis. At enrolment, median (interquartile range) age was 24 (20;30) years, 37%/63% of patients were from the USA/Europe, 54% were male, 54%/47% had undergone extra-cardiac conduit/lateral tunnel procedures, and 95% were in NYHA functional class I or II. History of arrhythmia was more common in older patients and patients with lateral tunnel; overall prevalence was 19%. Most laboratory values were within the normal range but mean creatinine clearance was abnormally low (87.7 ml/min). Angiotensin-converting enzyme inhibitors were used by 48% of patients and their use was associated with creatinine clearance

Comprehensive fetal care centers address congenital anomalies by developing pre- and post-natal care plans in a multidisciplinary format. To reduce exposure during the Coronavirus Infectious Disease-2019 (COVID-19) pandemic, the Centers for MedicareMedicaid Services (CMS) broadened access to telehealth services. We assessed provider satisfaction with the rapid transition from in-person prenatal visits to multidisciplinary consultationsPatients referred to an urban academic fetal care center during the first 6 weeks of the COVID-19 pandemic underwent advanced imaging including fetal MRI, focused ultrasound, and fetal echocardiography. Subsequently, multidisciplinary telehealth consultations occurred with all providers attending virtually. Patients were given the option of attending the multidisciplinary telehealth consultation in a conference room in the hospital or from home. During these meetings, relevant images were reviewed with all participantsTwenty-two surveys were administered with a response rate of 82%. 89% of providers were highly satisfied with the telehealth format. 72% of providers would prefer the multidisciplinary telehealth format to an in-person visit for future visits after COVID-19 restrictions are lifted. 22% of providers would leave the choice to the patient's family. One provider preferred in-person visits. Some providers noted that virtual conferences limited the ability to draw pictures, show educational materials, and provide emotional support.Providers were overwhelmingly supportive of continuing multidisciplinary telehealth conferences for complex prenatal consultations, even after restrictions are lifted, which has led to the continuation of this model for the duration of the pandemic. Providers highlighted the convenience and improved care coordination across specialties. Further studies to examine the patient experience with virtual consultations are warranted.

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.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.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).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.

Background Anomalous coronary artery origins appear in roughly 1% of coronary angiograms, and up to 15% of syncope and sudden cardiac death events can be attributed to anomalous coronaries. Patients with an anomalous coronary artery arising from the opposite sinus may initially present with syncope and electrocardiographic findings of ischemia. Case Report We describe a case in which an adolescent male presented with exercise-induced angina and syncope, and his initial electrocardiogram (ECG) showed diffuse ST-segment depression with ST-segment elevation in lead aVR. Cardiac catheterization revealed there was no coronary ostium in the left coronary cusp, and the left coronary artery had an anomalous origin from the right cusp. The patient received urgent left internal mammary artery-to-left anterior descending artery coronary bypass and a saphenous vein graft to the ramus intermedius. After he underwent 6 months of medical therapy with β-blockade and angiotensin-receptor blockade, his left ventricular systolic function improved to low-normal level (left ventricular ejection fraction, approximately 50%). Why Should an Emergency Physician Be Aware of This? ST-segment elevation in lead aVR is strongly prognostic for left main or triple-vessel coronary artery disease. However, in patients who present with syncope and few other coronary artery disease risk factors, this ECG finding should be suggestive of an ischemic event caused by an anomalous left coronary artery. Early recognition of this pattern of clinical signs and ECG findings by an emergency physician could be critical for making the correct diagnosis and risk stratifying the patient for early coronary angiography and urgent surgical revascularization.

The management of pulmonary hypertension has evolved significantly over the past 30 years. The introduction of targeted pulmonary arterial hypertension pharmacotherapies revolutionized care for a once untreatable disease. With improved outcomes, an increasing number of pediatric patients are surviving into adulthood. However, patients face a significant morbidity burden, due to both the disease and the complex therapies used to treat it. This chapter reviews the epidemiology and pathophysiology of pulmonary hypertension, the impact the disease has on quality of life, and the aspects of care that are important to address during the transition process. Improved outcomes are seen when patients are well-educated about their disease, actively participate in their care, and are appropriately supported throughout their disease course.

Heart failure (HF) in the adult with congenital heart disease (ACHD) is associated with high morbidity and mortality and has been implicated as the leading cause of death in this patient population. The diagnosis of HF in ACHD involves a combination of clinical suspicion from subjective patient history, anatomic imaging, functional diagnostic studies, and rhythm evaluation. Once diagnosed, the approach to management of HF in this population varies widely and by lesion. Unfortunately, there is a paucity of literature available delineating the optimal management of these patients, making clinical decision-making extremely challenging. In this review, we aim to summarize available evidence to help guide the diagnosis and management of HF in ACHD.

Background Left-sided lesions (LSLs) account for an important fraction of severe congenital cardiovascular malformations (CVMs). The genetic contributions to LSLs are complex, and the mutations that cause these malformations span several diverse biological signaling pathways: TGFB, NOTCH, SHH, and more. Here, we use whole exome sequence data generated in 342 LSL cases to identify likely damaging variants in putative candidate CVM genes. Methods Using a series of bioinformatics filters, we focused on genes harboring population-rare, putative loss-of-function (LOF), and predicted damaging variants in 1760 CVM candidate genes constructed a priori from the literature and model organism databases. Gene variants that were not observed in a comparably sequenced control dataset of 5492 samples without severe CVM were then subjected to targeted validation in cases and parents. Whole exome sequencing data from 4593 individuals referred for clinical sequencing were used to bolster evidence for the role of candidate genes in CVMs and LSLs. Results Our analyses revealed 28 candidate variants in 27 genes, including 17 genes not previously associated with a human CVM disorder, and revealed diverse patterns of inheritance among LOF carriers, including 9 confirmed de novo variants in both novel and newly described human CVM candidate genes (ACVR1, JARID2, NR2F2, PLRG1, SMURF1) as well as established syndromic CVM genes (KMT2D, NF1, TBX20, ZEB2). We also identified two genes (DNAH5, OFD1) with evidence of recessive and hemizygous inheritance patterns, respectively. Within our clinical cohort, we also observed heterozygous LOF variants in JARID2 and SMAD1 in individuals with cardiac phenotypes, and collectively, carriers of LOF variants in our candidate genes had a four times higher odds of having CVM (odds ratio = 4.0, 95% confidence interval 2.5–6.5). Conclusions Our analytical strategy highlights the utility of bioinformatic resources, including human disease records and model organism phenotyping, in novel gene discovery for rare human disease. The results underscore the extensive genetic heterogeneity underlying non-syndromic LSLs, and posit potential novel candidate genes and complex modes of inheritance in this important group of birth defects. Electronic supplementary material The online version of this article (doi:10.1186/s13073-017-0482-5) contains supplementary material, which is available to authorized users.

Background: Numerous benefits of breastfeeding exist, including lower incidence of diabetes, asthma, and eczema for infants and decreased risk of postpartum bleeding and depression for mothers. Employers of breastfeeding mothers have improved employee productivity, morale, company image, and employee retention. The AAP recommends exclusive breastfeeding until six months of age; however, in the US, only 25% of mothers report meeting that goal. Studies investigating the relationship between breastfeeding and employment found that working mothers are more likely to stop breastfeeding in the first month of return to work compared to their non-working counterparts. Barriers to pumping at work include an unsupportive …

The number of patients with congenital heart disease (CHD) reaching adulthood has risen dramatically over time. With over 90% of the CHD population surviving, there are now more adults with CHD than children. As this population ages, they face both the inherent risks associated with their underlying cardiac lesions and the increasing possibility of acquired cardiovascular disease. This chapter reviews the global burden of cardiovascular disease and discusses cardiovascular risk assessment as it pertains to the adult congenital heart disease population and the presentation and management of acute coronary syndromes.

Introduction: Adult Fontan patients are typically prescribed antiplatelet or anticoagulant therapy to manage increased risk for thrombotic and embolic complications (TECs). There is a Class III recommendation against the use of novel oral anticoagulants (NOACs) in this population due to a paucity of data. We hypothesized that NOACs are potentially non-inferior to warfarin in adult Fontan patients. Methods: We performed a multi-site retrospective review of adult Fontan patients, evaluated at three major academic medical centers (1995-2018), prescribed NOAC, warfarin, or aspirin therapy. Results: We identified 267 adult Fontan patients: 48 on NOACs, 107 on warfarin, and 180 on aspirin (14.4% to 54.2% cross-over amongst groups). Patients were more likely to have clinically significant bleeds (“bleeds”) if on a NOAC (HR=9.3, CI=3.0-28.4) or warfarin (HR=4.1, CI=1.6-10.5) versus aspirin. Bleed hazard ratio differences between NOAC and warfarin patients were not statistically significant (HR=2.3, CI=0.9-5.9). Patients on NOACs were not more likely to suffer TECs than patients on warfarin (HR=1.7, CI=0.4-6.3) or aspirin (HR=2.8, CI=0.7-10.3). Aspirin patients were younger, healthier, and had more favorable Fontan palliation. The traditional scoring systems to predict bleeds (HAS-BLED) and TECs (CHA 2 DS 2 VASc) were not predictive in this patient population. The only risk factor we identified for bleeds was a history of/predisposition to bleeding (OR=10.2, CI=4.4-23.6). Risk factors we identified for TECs included diabetes mellitus (OR=5.0, CI=2.2-11.4), labile international normalized ratio (OR=3.7, CI=1.1-12.4), and CHF (only in the NOAC/warfarin subgroup, OR=4.4, CI=1.2-16.3). Conclusions: NOACs are a potentially noninferior alternative to warfarin for adult Fontan patients. Our findings have laid the groundwork for a randomized control trial comparing the use of NOACs to warfarin in adult Fontan patients to test noninferiority or equivalence.

Objective Congenital heart disease (CHD) can affect the developing central nervous system, resulting in neurocognitive and behavioral deficits. Preoperative neurological abnormalities as well as sequelae of the open heart operations required to correct structural abnormalities of the heart contribute to these deficits. There are few studies examining the neurocognitive functioning of adults with CHD. This study sought to investigate multiple domains of neurocognitive functioning in adult survivors of CHD who had childhood cardiac surgery with either moderate or severe disease complexity. Design A total of 48 adults (18–49 years of age) who had undergone cardiac surgery for CHD prior to five years of age participated in the study. CHD severity was classified as moderate or severe according to the 32nd Bethesda Guidelines. A computerized battery of standardized neurocognitive tests (CNS-Vital Signs), a validated rating scale of executive functioning, and demographic questionnaires were administered. Results There were no significant differences between the moderate CHD group and normative data on any cognitive measure. In contrast, the severe CHD group differed from norms in multiple domains: psychomotor speed, processing speed, complex attention, reaction time, and on the overall neurocognitive index. Number of surgeries was strongly related to worse executive functioning. There was no association between age at first surgery or time since last surgery and neuropsychological functioning. Number of surgeries was also unrelated to neurocognitive test performance. Conclusions Patients with severe CHD performed significantly worse on measures of processing speed, attention, and executive functioning. These findings may be useful in the long-term care of adults with congenital heart disease.

Previous studies about long-term survivors of the atrial switch operation for d-transposition of the great arteries (TGA), known as the Mustard or Senning procedure, review complications predominantly in the first 3 decades after palliation. Little is published about very late complications after 30

Before the 1950s, D-transposition of the great arteries was associated with nearly 90% mortality within the first year of life. The Mustard and Senning procedures resulted in a significant increase in the lifespan of these patients but with notable long-term complications, including arrhythmias, sinus node dysfunction, chronotropic incompetence, and right ventricular systolic dysfunction. The arterial switch operation (first described by Adib Jatene) initially resulted in nearly universal death. However, the use of coronary buttons for coronary artery translocation has improved operative survival dramatically. It is now considered the treatment of choice in patients amendable to the arterial switch operation. Considered an anatomic repair, resulting in concordant ventriculoarterial connections and a systemic left ventricle, the arterial switch operation reduces the incidence of ventricular dysfunction. However, it is also associated with long-term complications, including aortic root dilatation, aortic valve regurgitation, right ventricular outflow tract obstructions, coronary artery stenosis/compression, and branch pulmonary artery stenosis.

Objective Adult Fontan patients are at increased risk for thrombosis and thromboembolic complications leading to increased morbidity and mortality. Most are prescribed antiplatelet or anticoagulant therapy for thromboprophylaxis; novel oral anticoagulants (NOACs) are uncommonly used given lack of data on their use in this population and generalized concerns regarding Fontan patients' abnormal coagulation. We report the largest single-center experience with the use of NOACs for treatment and prophylaxis of thrombosis and thromboembolism in adult Fontan patients. Results A retrospective chart review identified 21 patients (11 female, 10 male), median age 33 years (18-50) at first initiation, who were prescribed a NOAC on 27 different occasions. The main indications for anticoagulation were arrhythmia (N = 12), thrombosis (N = 8), and persistent right to left shunts (N = 2); one patient was initially on anticoagulation for arrhythmia but restarted for thrombosis. The most common indications for initiation of a NOAC over warfarin were patient/provider preference (N = 11), labile international normalized ratio (INR) (N = 5), initiation of therapy elsewhere (N = 3), and history of poor clinical follow-up (N = 2). Over a cumulative 316 months of patient therapy, one new thrombotic event was noted. No major or nonmajor bleeding events occurred, and 10 patients experienced minor bleeding that did not require the cessation of therapy. One patient died from multiorgan system failure following an unwitnessed, out of hospital arrest. At present, 10 patients remain on NOAC therapy in the setting of ongoing arrhythmia (N = 4), history of stroke (N = 2), history of pulmonary embolism (N = 2), history of deep vein thrombosis (N = 1), and history of right ventricle thrombus (N = 1). Conclusions While our study is limited by size, our results suggest that NOACs may be a non-inferior alternative to traditional anticoagulation and that further study is warranted.

1.1 Document Development Process The Society of Pediatric Cardiology Training Program Directors (SPCTPD) board assembled a Steering Committee that nominated 2 chairs, 1 SPCTPD Steering Committee member, and 5 additional experts from a wide range of program sizes, geographic regions, and

BackgroundThose with cyanotic heart disease have an elevated bleeding risk but also are hypercoaguable. Treating haemodynamically significant thrombi in this unique cohort poses a monumental challenge.CaseA 29-year-old women with tricuspid atresia and left pulmonary artery atresia presented with superior caval vein syndrome. She had a right modified Blalock–Taussig shunt as a neonate. A left modified Blalock–Taussig shunt performed later failed to establish flow to her left lung. At age 5, she had a Fontan procedure to the right lung but could not tolerate the physiology and had a low cardiac output syndrome. The Fontan was taken down and she was left with a Glenn anastamosis to the right pulmonary artery. She did well for years until she had dyspnea, upper extremity oedema and “facial fullness”. On examination she was tachycardic, hypotensive, and more desaturated than baseline. She also had facial plethora.Decision-makingEchocardiogram showed a large 9×3 mm nearly occlusive thrombus in the superior caval vein at the bifurcation of the left and right innominate veins. An emergent venogram confirmed the location and size of the thrombus. Given the thrombus burden and potential for distal embolisation through the Glenn to the single functional lung, we chose to treat the patient with thrombolytics. She had uncomplicated ICU course and was sent home on warfarin. Follow-up echocardiogram showed complete resolution of clot.ConclusionThis case shows the importance of history and physical exam in caring for this complex cohort of adult patients with CHD.

We report the successful implantation of a HeartMate II left ventricular assist device after a failed Fontan procedure in a patient with dextro-transposition of the great arteries. The patient had developed significant intrapulmonary arteriovenous shunting. Despite the theoretical risk of worsening intrapulmonary shunting due to the decrease in systemic vascular resistance after device implantation, our patient did well. He was discharged from the hospital in stable condition and had better oxygen saturation than before the device was implanted. To our knowledge, ours is the 2nd report of the use of a ventricular assist device after the failure of a Fontan procedure, and the first report concerning the effect of ventricular assist device implantation on intrapulmonary shunting.

Objectives The objectives of this study are to assess current management algorithms for left ventricular (LV) hemodynamic and diastolic changes following atrial septal device occlusion in adult patients. Background Percutaneous closure is now routine for atrial septal defects (ASDs). Previous studies show ventricular size normalization following percutaneous closure. Case reports have discussed the incidence of early LV dysfunction following ASD device placement with some recommending delay of closure or placement of a fenestrated device in patients with elevated LV pressures. Method All adult patients with an isolated secundum ASD who underwent percutaneous repair were included in this study. In addition to placement of the Amplatzer septal occluder, all patients had a pre and postprocedure transthoracic echocardiography performed measuring myocardial performance index (MPI). Left ventricular end diastolic pressure (LVEDP) was measured before and after balloon occlusion. Results Nineteen patients (17 female and two male) were included in this study. Average age was 47.2 years (± 12.7 years). All defects were of clinical significance with average Qp : Qs = 2.0 (± 0.6). Balloon occlusion led to a significant (P < .01) increase in LVEDP (pre-LVEDP mean = 7.1 mm Hg, post-LVEDP mean = 15.3 mm Hg). There was no significant change in MPI. ASD device size displayed a modest correlation relative to the change in LVEDP (R = 0.42, P = .09). Conclusions Percutaneous ASD closure induces an increase in LVEDP. Despite this, all patients tolerated device closure without complication. It appears safe to close ASDs in these patients.

Objective This article aims to give a comprehensive description of cardiac resource utilization in adults at a freestanding children's hospital. Design Retrospective chart review. Setting Large, tertiary, freestanding children's hospital. Patients Adults (18 years of age and older) seen within the heart center or evaluated by heart center personnel from January 1, 2006 through December 31, 2010. Results There were 2794 adults that utilized cardiology services during the study period. The mean patient age was 23.5 ± 8.4 years (18–70.5). The 1748 (62.6%) patients had a diagnosis of congenital heart disease. There were a total of 525 catheterization laboratory encounters and 104 cardiac surgical procedures performed on adult patients during the 5-year study period. The in-hospital mortality for all invasive encounters was 0%. The minor adverse event rate for all invasive encounters was 6.7% and 4.8%, respectively. Also, the overall major adverse event rates were 1.9% and 4.8%, respectively. There were 162 cardiology evaluations performed on adults in the emergency room. There were a total of 5489 adult cardiology clinic visits. The most common congenital heart disease diagnoses were: tetralogy of Fallot: 228 (13%), D-transposition of the great arteries: 208 (11.9%), single ventricle physiology: 187 (10.7%), atrial septal defect 128: (7.3%), and ventricular septal defect: 117 (6.7%). Overall, the complexity of congenital heart disease was: simple: 41%, moderate: 37%, and complex: 22%. Conclusions A significant and growing number of adult patients are currently being cared for at pediatric institutions. Excellent outcomes have been achieved at these centers with dedicated adult congenital heart disease services, consisting of both cardiologists and other faculty trained in adult medicine. Others with training in adult medicine, whether they be staff or contracted consulting services, are also required to help manage adult comorbidities.

Background Adults with congenital heart disease (CHD) are often cared for at pediatric hospitals. There are no data describing the incidence or type of medication prescribing errors in adult patients admitted to a pediatric cardiovascular intensive care unit (CVICU). Methods A review of patients >18 years of age admitted to the pediatric CVICU at our institution from 2009 to 2011 occurred. A comparator group 70 kg (a typical adult weight) was identified. Medication prescribing errors were determined according to a commonly used adult drug reference. An independent panel consisting of a physician specializing in the care of adult CHD patients, a nurse, and a pharmacist evaluated all errors. Medication prescribing orders were classified as appropriate, underdose, overdose, or nonstandard (dosing per weight instead of standard adult dosing), and severity of error was classified. Results Eighty-five adult (74 patients) and 33 pediatric admissions (32 patients) met study criteria (mean age 27.5 ± 9.4 years, 53% male vs. 14.9 ± 1.8 years, 63% male). A cardiothoracic surgical procedure occurred in 81.4% of admissions. Adult admissions weighed less than pediatric admissions (72.8 ± 22.4 kg vs. 85.6 ± 14.9 kg, P < .01) but hospital length of stay was similar. (Adult 6 days [range 1–216 days]; pediatric 5 days [Range 2–123 days], P = .52.) A total of 112 prescribing errors were identified and they occurred less often in adults (42.4% of admissions vs. 66.7% of admissions, P = .02). Adults had a lower mean number of errors (0.7 errors per adult admission vs. 1.7 errors per pediatric admission, P < .01). Prescribing errors occurred most commonly with antimicrobials (n = 27). Underdosing was the most common category of prescribing error. Most prescribing errors were determined to have not caused harm to the patient. Conclusions Prescribing errors occur frequently in adult patients admitted to a pediatric CVICU but occur more often in pediatric patients of adult weight.

Background Heart failure (HF) accounts for >3 million hospital admissions annually in adults with acquired cardiovascular disease, but there are limited data on HF admissions in adults with congenital heart disease (ACHD). The purpose of this study was to test the hypotheses that HF admissions are common in ACHD and associated with significant morbidity and mortality. Methods The 2007 Nationwide Inpatient Sample was used to assess national prevalence, morbidities, and risk factors for mortality during hospitalizations among ACHD with HF. Results Of the 84 308 (95% CI 71 345–97 272) ACHD admissions in the United States in 2007, 17 193 (95% CI 14 157–20 229) had a diagnosis of HF (20%). ACHD with HF was associated with an increased risk of death compared to ACHD without HF (OR 3.3, 95% CI 2.6–4.1). On multivariable analysis independent risk factors for mortality included nonoperative intubation (OR 6.1, 95% CI 3.3–11.4), sepsis (OR 4.3, 95% CI 2.4–7.4), and acute myocardial infarction (OR 3.2, 95% CI 1.8–5.7). Cardiac defects associated with an increased risk of mortality included ventricular septal defects (VSDs) (OR 1.8, 95% CI 1.0–3.4). Conclusions In this large population-based study, HF-related hospitalizations were common in ACHD and associated with an increased risk of death compared to non-HF admissions. The risk of mortality is increased with the diagnoses of VSDs and the presence of specific comorbidities such as respiratory failure and sepsis.

Background. In adult congenital heart disease (CHD), arrhythmias contribute significantly to morbidity and mortality. Often, these adult patients are treated at a freestanding pediatric facility. Limited data exist looking at this cohort. Methods. A retrospective review was performed of all electrophysiology (EP) procedures performed in adults at our institution during a 5-year period from January 1, 2006 through December 31, 2010. Results. There were 99 cases performed in a total of 87 adults with CHD during this time period. The mean patient age was 27.1 years (18–51 years). The most common congenital cardiac diagnoses were: 27% with D-transposition of the great arteries (n = 27)—of which 85% (n = 23) have had a previous atrial switch procedure, 20% with tetralogy of Fallot (n = 20), and 16% with previous Rastelli repair (n = 16). Overall, 37 EP studies were performed, with the majority done in patients with complex CHD. There were 74 additional cases. These procedures consisted of: 38 pacemakers (51%), 26 implantable cardiac defibrillators (36%), six laser lead extractions (8%), two loop recorders (3%), and two pocket revisions (3%). During this 5-year period, there was one major complication (1%) and seven minor complications (7%). Conclusions. The complex care of adults with CHD requiring EP procedures can be safely and effectively accomplished in a freestanding pediatric hospital with low complications, provided institutional support of an adult CHD program.

Congenital heart defects involving left-sided lesions (LSLs) are relatively common birth defects with substantial morbidity and mortality. Previous studies have suggested a high heritability with a complex genetic architecture, such that only a few LSL loci have been identified. We performed a genome-wide case-control association study to address the role of common variants using a discovery cohort of 778 cases and 2756 controls. We identified a genome-wide significant association mapping to a 200 kb region on chromosome 20q11 [P= 1.72 × 10-8 for rs3746446; imputed Single Nucleotide Polymorphism (SNP) rs6088703 P= 3.01 × 10-9, odds ratio (OR)= 1.6 for both]. This result was supported by transmission disequilibrium analyses using a subset of 541 case families (lowest P in region= 4.51 × 10-5, OR= 1.5). Replication in a cohort of 367 LSL cases and 5159 controls showed nominal association (P= 0.03 for rs3746446) resulting in P= 9.49 × 10-9 for rs3746446 upon meta-analysis of the combined cohorts. In addition, a group of seven SNPs on chromosome 1q21.3 met threshold for suggestive association (lowest P= 9.35 × 10-7 for rs12045807). Both regions include genes involved in cardiac development-MYH7B/miR499A on chromosome 20 and CTSK, CTSS and ARNT on chromosome 1. Genome-wide heritability analysis using case-control genotyped SNPs suggested that the mean heritability of LSLs attributable to common variants is moderately high ([Formula: see text] range= 0.26-0.34) and consistent with previous assertions. These results provide evidence for the role of common variation in LSLs, proffer new genes as potential biological candidates, and give further insight to the complex genetic architecture of congenital heart disease.

Congenital heart disease (CHD) is a common structural defect of the heart or major blood vessels. Patients with adult congenital heart disease (ACHD) have medical needs that are distinct from those of pediatric patients with CHD, and the transition into adult health care is important for management of the patient with ACHD. A large proportion of patients with CHD develop diseases and complications associated with the long-term stress of intracardiac shunts. Pulmonary arterial hypertension (PAH) is a significant complication of some CHD lesions. The treatment of these patients remains challenging due to their combined heart and lung disease, and multidisciplinary care is ofen necessitated for a variety of secondary conditions. A number of treatment options are available for the management of PAH associated with CHD, including prostanoids, phosphodiesterase type-5 inhibitors, and endothelin receptor antagonists. This article discusses the diagnosis and management of such ACHD patients with PAH.

Although there has been an intense interest in the care of the adult with congenital heart disease (ACHD), these guidelines are usually not focused on the concepts of immediate postoperative care. The 2 most common perioperative complications are heart failure and atrial dysrhythmias. The broad etiological categories for ACHD and heart failure include primary pump failure (systolic dysfunction) and hypertrophy (diastolic dysfunction) of the right, left, or single ventricle. Some conditions with a pressure-loaded systemic right ventricle as well as patients with a functionally single ventricle may be particularly prone to develop heart failure; in others, right heart failure may occur in patients with Ebstein anomaly or with tetralogy of Fallot after corrective repair but with varying degrees of pulmonary insufficiency, and left heart failure can be a result of mitral or aortic insufficiency. The management of postoperative atrial tachycardia in the ACHD patient actually begins prior to surgery. Assessment of arrhythmia history, complete determination of risk, inducibility and arrhythmia substrate, preoperative planning of pacing sites, and optimal pacing strategies all assist to bring about optimal postoperative outcomes. Ideal perioperative care of the ACHD involves a multidisciplinary team of pediatric and adult cardiologists, pediatric and adult intensivists, cardiac surgeons, and nursing staff along with a myriad of adult subspecialists such as pulmonology, nephrology, endocrinology, and others including psychiatry.

Atrial septal defect, ventricular septal defect (VSD), and atrioventricular septal defect (AVSD) are among the most common congenital heart lesions, with most children surviving to adulthood. However, the clinical course of these patients is largely unknown, particularly pertaining to inpatient care. The purpose of this study was to assess hospitalizations for septal defects in adults with congenital heart disease (CHD) and risk factors associated with significant morbidity and mortality. The 2007 Nationwide Inpatient Sample was used to assess national prevalence of hospitalizations in adults with CHD with septal defects. Co-morbidities and risk factors for mortality were also determined. There were 84,308 adult CHD admissions in the United States in 2007. Fifty-four percent of adult CHD admissions had diagnoses of septal defects, with 48% having atrial septal defect, 7% having VSD, and 0.4% having AVSD. Overall in-hospital mortality was 2.1%. Common co-morbidities included arrhythmias (31%), heart failure (20%), and diabetes mellitus (18%). On multivariable analysis, independent risk factors for mortality included presence of VSD (odds ratio 3.1, 95% confidence interval [CI] 1.5 to 6.5), trisomy 21 (odds ratio 2.9, 95% CI 1.1 to 7.5), and pulmonary hypertension (odds ratio 1.5, 95% CI 1.0 to 2.4). In conclusion, this study of hospitalizations in adults with septal defects found that admissions are common and associated with significant co-morbidities. Overall mortality is low but is increased in patients with VSD. Cardiac and noncardiac co-morbidities are commonly encountered. Many noncardiac conditions, including trisomy 21 and the youngest and oldest groups, are associated with an increased risk of death.

Due to the advances in cardiovascular care of children born with congenital heart disease (CHD), the population of adults with congenital heart disease (ACHD) has increased substantially over the past 60 years. Similarly, the number of women with CHD who reach child-bearing age has also increased. With this reality comes the responsibility to educate these women on factors that would decrease the likelihood of an adverse outcome during pregnancy. It is well known that pregnancy may result in circulatory changes that could adversely affect the health status of a healthy patient. In a patient with CHD, with or without repair, the normal change in circulatory burden could increase adverse effects. Certain lesions are considered to be high risk (e.g., patients with Marfan syndrome and pulmonary hypertension), based on anecdotal evidence and small case study reports. Most advice given to patients with intermediate risk lesions (i.e., Fontan operation, transposition of great arteries, cyanotic heart disease without pulmonary hypertension) are based on theoretical determination of risk, and there are few studies done to validate these recommendations. This review serves to summarize the literature findings and make current recommendations on managing pregnancy in patients with CHD.

A 21-year-old woman with tricuspid atresia who had undergone an atriopulmonary Fontan operation at 3 years of age presented with intra-atrial reentrant tachycardia and tachycardia-induced cardiomyopathy. She had done well on no medications, and systolic function was normal on echocardiograms 3 months before this presentation. Since then, she had experienced exertional palpitations, increasing abdominal girth, loose bowel movements, vague abdominal pain, fatigue, and decreased appetite. Examination revealed a blood pressure of 120/70 mmHg, a regular tachycardic pulse, clear lungs, a pulse oximetry saturation of 97%, and a distended abdomen with ascites and hepatomegaly. Laboratory tests showed elevated alanine transaminase of 115 IU/L, brain natriuretic peptide of 556 pg/mL, an international normalized ratio of 1.4, negative stool antitrypsin (no protein-losing enteropathy), and normal renal function, lactate, and cardiac enzyme levels. An electrocardiogram showed flutter waves and 2:1 atrioventricular conduction (ventricular rate, 122 beats/min) (Fig. 1). A transthoracic echocardiogram revealed a dilated left ventricle with severely depressed systolic function, an ejection fraction of 0.25, and spontaneous echo contrast in the dilated inferior vena cava. A transesophageal echocardiogram showed no left atrial appendage thrombus; however, dense contrast was present in the dilated right atrium of the Fontan circuit (Fig. 2). Fig. 1 A 12-lead electrocardiogram shows intra-atrial reentrant tachycardia with 2:1 atrioventricular block; arrows point to flutter waves. Fig. 2 Transesophageal echocardiogram (bicaval view) shows 2:1 intra-atrial reentrant tachycardia with dense spontaneous echo contrast. We presumed that tachycardia-induced cardiomyopathy was exacerbating the patient's Fontan circuit stasis, so we recommended terminating the tachycardia. Cardioversion yielded improvement (Fig. 3); however, contrast was still seen on cardiac magnetic resonance images (Figs. 4 and ​and5).5). The patient was placed on amiodarone, anticoagulation, and anticongestive therapy. An echocardiogram 4 months later showed improvement; the patient had mildly depressed systolic function with maintained sinus rhythm. Fig. 3 Transesophageal echocardiogram (bicaval view) after cardioversion to sinus rhythm shows improved but persistent spontaneous echo contrast. Fig. 4 Cardiac magnetic resonance image (axial view) shows atriopulmonary Fontan anatomy (right atrium-to-bilateral branch pulmonary artery anastomoses with visible contrast). Fig. 5 Cardiac magnetic resonance image (bicaval coronal view) shows the atriopulmonary Fontan circuit with swirling spontaneous echo contrast. IVC = inferior vena cava; LA = left atrium; RA = right atrium/atriopulmonary Fontan circuit to pulmonary arteries; ...

Anomalous coronary morphologies present uncommon electrocardiographic and clinical presentations that warrant urgent diagnostics and interventions. A 15-year-old male experienced his first syncopal event after running a 400-meter race. After a minute of unconsciousness, emergency services brought

Persistence of left superior vena cava (LSVC) is present in 0.3% of the general population but increased in congenital heart disease, ranging from 3-4%. Often incidentally discovered, this anatomic variant may provide access for dual chamber pacing when vascular access is limited. A 33-year old

Atrial arrhythmias are common in patients with complex congenital heart disease and associated with increased morbidity and mortality. Reactive antitachycardia pacing (ATP) can terminate atrial arrhythmias and reduce progression to persistent atrial fibrillation but utility is unreported in complex

The secundum atrial septal defect (ASD) is noted to occur in 1 per 1,500 live births and is the fourth most common congenital heart defect (CHD) [Anzai et al. in Am J Cardiol 93:426–431, 2004]. Early complications with percutaneous closure of secundum ASDs include device malposition and embolization, arrhythmias (primarily atrial fibrillation), pericardial effusion, residual shunt, and thrombus development on the left atrial disk [Chessa et al. in J Am Coll Cardiol 39:1061–1065, 2002, Co-Burn and William in Moss and Adams’ Heart disease in infants, children and adolescents including fetus and young adults. Williams and Wilkins, Baltimore, 1995]. We present a patient with a very late complication of device thrombus after percutaneous secundum ASD device closure.

Background: Thromboembolic complications are a leading cause of morbidity and mortality in patients with Fontan physiology. Current clinical practice for prevention and treatment of these complications involves the use of vitamin K antagonists and/or antiplatelet agents. Novel oral anticoagulants (

Background: Early childhood palliation for pulmonary atresia with intact ventricular septum (PA-IVS) can range from biventricular repair to single ventricle palliation. This study aims to evaluate the need for additional interventions long-term in a survivor cohort of adult PA-IVS patients following

A 39-year-old man presented with a fever of 102 °F. He had a history of viridans group streptococci (VGS) bacteremia, levo-transposition of the great vessels (also known as congenitally corrected transposition), large peri-membranous ventricular septal defect (VSD), and valvular pulmonary stenosis. Prior cardiac catheterization had shown his circulation to be well balanced, with a ratio of pulmonary blood flow to systemic blood flow of 1.4:1. Examination revealed nothing unusual except for a harsh systolic ejection murmur along the left sternal border. No emboli or immunologic phenomena were seen. The patient's white blood cell count and cell count differential were normal, but his erythrocyte sedimentation rate and C-reactive protein level were elevated. During his initial 48 hours after presentation, 8 of 8 blood cultures grew VGS. We performed transesophageal echocardiography (TEE) to look for valvular vegetations and found neither intracardiac vegetations nor other evidence of endocarditis. Depicted are atrial–ventricular discordance (Fig. 1); ventriculo–arterial discordance (Figs. 2 and ​and3);3); short-axis view of the semilunar valves (Figs. 4 and ​and5);5); 3-dimensional (3D) imaging of the domed unicommissural pulmonic valve (Fig. 6); and a peak gradient of 80 mmHg, which suggests protected pulmonary arterial pressures (Fig. 7). Fig. 1 Transesophageal echocardiogram (0° midesophageal view) depicts a 4-chamber view. Note the usual arrangement of the atria, with atrioventricular discordance and the large inlet ventricular septal defect. Fig. 2 Transesophageal echocardiogram (60° midesophageal view) depicts atrioventricular and ventriculoarterial discordance between the left atrium, right ventricle, and aorta. Fig. 3 Transesophageal echocardiogram (60° midesophageal view) depicts atrioventricular and ventriculoarterial discordance between the right atrium, left ventricle, and pulmonary artery. Fig. 4 Transesophageal echocardiogram (140° midesophageal view) depicts short-axis view across the semilunar valves caudally. The aorta is anterior and leftward (L-transposition) to the pulmonary valve. Fig. 5 Transesophageal echocardiogram (140° midesophageal view) depicts short-axis view across the semilunar valves cranially. The pulmonary valve appears to be bicommissural, stenotic, thickened, and domed. Fig. 6 Three-dimensional transesophageal echocardiogram (140° midesophageal view) depicts short-axis view and level of pulmonary stenosis. The pulmonary valve is clearly unicommissural. Fig. 7 Continuous-wave Doppler echocardiogram across the pulmonary valve depicts an 80-mmHg gradient (4.5 m/s peak velocity) in the setting of systemic right ventricular and protected pulmonary arterial pressures. In Figure 1, the atrioventricular (AV) valves appear to be in the same plane, which raises the possibility of a partial AV canal with a large inlet VSD—rather than the usual apical displacement of the tricuspid valve (not shown) seen in structurally normal hearts and in congenitally corrected transposition. Also note that the AV valves follow their respective ventricles (Figs. 1–3), not their supplying atria. In comparing planar (Figs. 4 and ​and5)5) with 3D imaging (Fig. 6), note that the “bicommissural” valve is better defined with 3D imaging as unicommissural.