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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.

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.

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.

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.

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.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.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.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.

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.

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; ...

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.

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.

Adult congenital heart disease (ACHD) clinicians are hampered by the paucity of data to inform clinical decision-making. The objective of this study was to identify priorities for clinical research in ACHD.A list of 45 research questions was developed by the Alliance for Adult Research in Congenital Cardiology (AARCC), compiled into a survey, and administered to ACHD providers. Patient input was sought via the Adult Congenital Heart Association at community meetings and online forums. The 25 top questions were sent to ACHD providers worldwide via an online survey. Each question was ranked based on perceived priority and weighted based on time spent in ACHD care. The top 10 topics identified are presented and discussed.The final online survey yielded 139 responses. Top priority questions related to tetralogy of Fallot (timing of pulmonary valve replacement and criteria for primary prevention ICDs), patients with systemic right ventricles (determining the optimal echocardiographic techniques for measuring right ventricular function, and indications for tricuspid valve replacement and primary prevention ICDs), and single ventricle/Fontan patients (role of pulmonary vasodilators, optimal anticoagulation, medical therapy for preservation of ventricular function, treatment for protein losing enteropathy). In addition, establishing criteria to refer ACHD patients for cardiac transplantation was deemed a priority.The ACHD field is in need of prospective research to address fundamental clinical questions. It is hoped that this methodical consultation process will inform researchers and funding organizations about clinical research topics deemed to be of high priority.

Individuals with adult congenital heart disease (ACHD) are at a great risk for heart failure, and the underlying anatomic features are important predictors of heart failure. As the ACHD population grows older, multiple events, including years of an altered physiology, the neurohormonal cascade, and many still unknown, culminate in ventricular failure. Surgical device therapy is an effective method in supporting patients with heart failure. Ventricular assist devices have been used with success in bridging ACHD patients to heart transplantation or destination therapy.

Heart failure (HF) accounts for3 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.The 2007 Nationwide Inpatient Sample was used to assess national prevalence, morbidities, and risk factors for mortality during hospitalizations among ACHD with HF.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).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 There are minimal data regarding ventricular assist device (VAD) implantation in adult patients with complex congenital heart disease (CHD). Methods The medical records of 6 adult patients with complex CHD who underwent VAD implantation were retrospectively analyzed to characterize pre-operative clinical status, implantation techniques and challenges, post-operative management, and post-operative outcomes. Results All patients had a systemic right ventricle, including 2 with single-ventricle physiology. The average age at VAD implantation was 41 years. The implanted VADs included 1 HeartMate XVE, 3 HeartMate II (Thoratec Corp, Pleasanton, CA), 1 Jarvik 2000 (Jarvik Heart, New York, NY), and 1 HeartWare HVAD (HeartWare Inc, Framingham, MA). In-hospital outcomes included no sub-pulmonic ventricular failure, no VAD thrombosis or mechanical failure, 30-day mortality in 1 patient, non-fatal sub-arachnoid hemorrhage in 1 patient, and sustained ventricular tachycardia requiring unsynchronized direct current cardioversion in 1 patient. Of the 5 patients who survived to discharge, 1 patient received 171 days of VAD support before cardiac transplantation and survived for 1,484 days after transplantation; 1 patient received 262 days of VAD support before out-of-hospital death of unknown etiology; 1 patient had received VAD support for 988 days as of December 1, 2012, while awaiting a transplant; and 2 patients who received VADs as destination therapy had received 577 and 493 days of VAD support, respectively, and were still alive as of December 1, 2012. Conclusions This case series characterizes important post-operative management challenges and clinical outcomes associated with VAD implantation as a bridge-to-transplant or as destination therapy in adult patients with complex CHD.

Heart disease is a main cause of maternal mortality in the United States and the United Kingdom. Most deaths are from acquired conditions. However, due to the increased survival of children born with congenital heart disease (CHD) over the past 30 years, the population of adults with congenital heart disease in the U.S. now exceeds 1 million. Thus, there are now more adults with CHD than children with CHD. Many of these adult survivors of pediatric heart disease are of childbearing age and are considering pregnancy. This article reviews the literature concerning pregnancy and CHD.

Adults with congenital heart defects and congestive heart failure are a challenging population because of their complex anatomy, prior surgical palliation, and hemodynamic status. We report one of the first cases of a ventricular assist device placement in a patient with decompensated heart failure and a history of D-transposition of the great vessels who had a prior atrial switch operation.

Background: In recent years, the diagnosis of infective endocarditis has been enhanced by the use of echocardiography. We sought, therefore, to review its effect on the management of endocarditis in children. Methods: We reviewed all the patients presenting to our institution for evaluation for infective endocarditis from May 1994 to January 2002. The patients were stratified according to whether or not they had congenitally malformed hearts. Results: Of the 90 referred patients identified, 46 (51%) had positive ultrasonic findings. Of these, we excluded 26 patients because of the presence of indwelling lines. The remaining 20 patients with features of endocarditis had a median age of 6.5 years, and a range from 0.14 to 8.5 years. There were 4 patients with normal hearts, and 16 with congenital cardiac malformations. We identified rupture of a sinus of Valsalva in four patients, with rupture into the left ventricle in two, and into the right ventricle and right atrium in one each. The mitral valve was involved in six patients, the aortic valve in another six, including all four with rupture of the sinus of Valsalva, both mitral and aortic valves in three, the pulmonary trunk in three patients, and the tricuspid valve and a Blalock-Taussig shunt in one patient each. Organisms isolated included Streptococcus mitis in 4 patients, Streptococcus pneumoniae in 2 patients, Streptococcus sanguis in 1, Staphylococcus aureus in 3, Staphylococcus epidermidis in 1, and Enteroccocus in 2. Cultures proved negative in 7 patients. Surgical intervention was needed in 12 patients, and one died (5%). Only the left-sided chambers were involved in those with normal hearts. Both patients infected with Streptococcus pneumoniae had rupture of a sinus of Valsalva. Conclusion: Involvement of the left-sided chambers is more likely in structurally normal hearts, and in cases with rupture of a sinus of Valsalva, in which case infection with Streptococcus pneumonia should be suspected.

Arterial occlusive disease is a well-known complication of radiation therapy, but venous thrombosis and occlusion after radiotherapy may also occur. We report the use of an endovascular stent to treat a patient who developed peripheral venous stenosis 4 years after radiation therapy for malignant melanoma.

Although medications can potentially cause sudden, unexpected death by a variety of mechanisms, cardiac arrhythmias are the most frequent cause. Reports of sudden deaths of children and adolescents treated with psychotropic medications have raised concerns regarding the appropriateness of this therapy, as well as the advisability of baseline and periodic electrocardiographic monitoring of such patients. Stimulants such as the amphetamines and methylphenidate cause slight but clinically insignificant increases in heart rate and blood pressure. The tricyclic antidepressants imipramine and desipramine have been associated with at least seven reported deaths in young patients. The selective serotonin reuptake inhibitors have minimal cardiovascular effects; deaths have been rare, even with massive overdose.

Reports of sudden deaths of children and adolescents treated with psychotropic medications have raised concerns regarding the appropriateness of this therapy, as well as the advisability of baseline and periodic electrocardiographic (ECG) monitoring of such patients.1 2 3 4 What follows is a review of the drug effects on the ECG, cardiovascular effects of the commonly used psychotropic medications in children and adolescents, a summary of potentially dangerous drug interactions, and recommendations for cardiovascular monitoring. Although medications can potentially cause sudden, unexpected death by a variety of mechanisms (eg, seizures, central nervous system depression, or coronary artery spasm), cardiac arrhythmias are the most frequent cause. In particular, a unique form of ventricular tachycardia termed torsade de pointes has been recognized as the arrhythmia responsible for the so-called proarrhythmic effect of several antiarrhythmia drugs, and recent evidence has pointed to a similar mechanism in syncope and deaths related to other medications5 and in the familial long-QT syndromes.6 The common feature of these conditions is delayed repolarization of the myocardium (related to abnormal sodium or potassium currents) with resultant prolongation of the QT interval of the ECG. This appears to leave the myocardium vulnerable to ventricular tachycardia, primarily in the setting of bradycardia but occasionally in association with exercise. Other ECG abnormalities, such as sinus node depression, …