ACC/AHA/ASE/HRS/ISACHD/SCAI/SCCT/SCMR/SOPE 2020 Appropriate Use Criteria for Multimodality Imaging During the Follow-Up Care of Patients With Congenital Heart Disease: A Report of the American College of Cardiology Solution Set Oversight Committee and Appropriate Use Criteria Task Force, American Heart Association, American Society of Echocardiography, Heart Rhythm Society, International Society for Adult Congenital Heart Disease, Society for Cardiovascular Angiography and Interventions, Society of Cardiovascular Computed Tomography, Society for Cardiovascular Magnetic Resonance, and Society of Pediatric Echocardiography.

The American College of Cardiology (ACC) collaborated with the American Heart Association, American Society of Echocardiography, Heart Rhythm Society, International Society for Adult Congenital Heart Disease, Society for Cardiovascular Angiography and Interventions, Society of Cardiovascular Computed Tomography, Society for Cardiovascular Magnetic Resonance, and the Society of Pediatric Echocardiography to develop Appropriate Use Criteria (AUC) for multimodality imaging during the follow-up care of patients with congenital heart disease (CHD). This is the first AUC to address cardiac imaging in adult and pediatric patients with established CHD. A number of common patient scenarios (also termed "indications") and associated assumptions and definitions were developed using guidelines, clinical trial data, and expert opinion in the field of CHD.1 The indications relate primarily to evaluation before and after cardiac surgery or catheter-based intervention, and they address routine surveillance as well as evaluation of new-onset signs or symptoms. The writing group developed 324 clinical indications, which they separated into 19 tables according to the type of cardiac lesion. Noninvasive cardiac imaging modalities that could potentially be used for these indications were incorporated into the tables, resulting in a total of 1,035 unique scenarios. These scenarios were presented to a separate, independent panel for rating, with each being scored on a scale of 1 to 9, with 1 to 3 categorized as "Rarely Appropriate," 4 to 6 as "May Be Appropriate," and 7 to 9 as "Appropriate." Forty-four percent of the scenarios were rated as Appropriate, 39% as May Be Appropriate, and 17% as Rarely Appropriate. This AUC document will provide guidance to clinicians in the care of patients with established CHD by identifying the reasonable imaging modality options available for evaluation and surveillance of such patients. It will also serve as an educational and quality improvement tool to identify patterns of care and reduce the number of Rarely Appropriate tests in clinical practice.

Sudden cardiac arrest in patients following surgery for CHD.

The prevalence of sudden cardiac arrest after surgery for CHD is primarily related to the complexity of the congenital defect and the presence of residual defects, especially ventricular dysfunction. Among all causes of death in patients having CHD, about 19% lead to sudden mortality. The specific risk factors associated with the various congenital defects are poorly understood. The lone exception is tetralogy of Fallot, largely due to its high prevalence and the historically high post-operative survival rate. In tetralogy of Fallot, historical, haemodynamic, and electrical features contribute to risk, and electrophysiologic testing may be helpful, particularly to rule out risk. An implantable cardioverter-defibrillator is highly effective for secondary prevention in most forms of CHD, and future advances will improve its role in primary prevention.

Screening the apparently healthy athlete for risk: a paradigm in transition.

It has largely been accepted that pre-participation screening for student athletes is necessary, but there is still no consensus on the most effective and efficient ways to accomplish this. Most clinical strategies are based on retrospective case series. By applying the European Society of Cardiology and Seattle criteria, electrocardiography appears to afford the lowest false-positive rate for identifying potentially dangerous cardiac abnormalities in athletes. Prospective, randomised trials may help determine the most effective primary prevention. Normative data for age, gender, and ethnicity for screening tools need to be formulated to further reduce false-positive results. Targeted advanced screening aimed at the highest risk groups may be the most beneficial and cost-effective application of primary prevention.

A Precision Medicine Approach to the Rescue of Function on Malignant Calmodulinopathic Long-QT Syndrome.

RATIONALE: Calmodulinopathies comprise a new category of potentially life-threatening genetic arrhythmia syndromes capable of producing severe long-QT syndrome (LQTS) with mutations involving CALM1, CALM2, or CALM3. The underlying basis of this form of LQTS is a disruption of Ca2+/calmodulin (CaM)-dependent inactivation of L-type Ca2+ channels. OBJECTIVE: To gain insight into the mechanistic underpinnings of calmodulinopathies and devise new therapeutic strategies for the treatment of this form of LQTS. METHODS AND RESULTS: We generated and characterized the functional properties of induced pluripotent stem cell-derived cardiomyocytes from a patient with D130G-CALM2-mediated LQTS, thus creating a platform with which to devise and test novel therapeutic strategies. The patient-derived induced pluripotent stem cell-derived cardiomyocytes display (1) significantly prolonged action potentials, (2) disrupted Ca2+ cycling properties, and (3) diminished Ca2+/CaM-dependent inactivation of L-type Ca2+ channels. Next, taking advantage of the fact that calmodulinopathy patients harbor a mutation in only 1 of 6 redundant CaM-encoding alleles, we devised a strategy using CRISPR interference to selectively suppress the mutant gene while sparing the wild-type counterparts. Indeed, suppression of CALM2 expression produced a functional rescue in induced pluripotent stem cell-derived cardiomyocytes with D130G-CALM2, as shown by the normalization of action potential duration and Ca2+/CaM-dependent inactivation after treatment. Moreover, CRISPR interference can be designed to achieve selective knockdown of any of the 3 CALM genes, making it a generalizable therapeutic strategy for any calmodulinopathy. CONCLUSIONS: Overall, this therapeutic strategy holds great promise for calmodulinopathy patients as it represents a generalizable intervention capable of specifically altering CaM expression and potentially attenuating LQTS-triggered cardiac events, thus initiating a path toward precision medicine.

Frequent Activation Delay-Induced Mechanical Dyssynchrony and Dysfunction in the Systemic Right Ventricle.

BACKGROUND: Patients with systemic right ventricles frequently experience progressive heart failure and conduction abnormalities leading to abnormal ventricular activation. Activation delay-induced mechanical dyssynchrony can contribute to ventricular failure and is identified by a classic strain pattern of paradoxical opposing wall motion that is an excellent predictor of response to cardiac resynchronization therapy in adults with left bundle branch block. The specific aims of this study were to compare right ventricular (RV) mechanics in an adult systemic right ventricle population versus control subjects, evaluate the feasibility of this RV strain pattern analysis, and determine the frequency of the classic pattern. METHODS: Young adults (n = 25) with d-transposition of the great arteries, status post Mustard or Senning palliation (TGA-MS), were ambispectively enrolled and compared with healthy young adults (n = 30) who were prospectively enrolled. All subjects were imaged using novel three-apical view (18-segment) RV longitudinal speckle-tracking strain analysis (EchoPAC) and electrocardiographic data. RESULTS: Patients with TGA-MS had diminished RV global peak systolic strain compared with control subjects (-12.0 ± 4.0% vs -23.3 ± 2.3%, P < .001). Most patients with TGA-MS had intrinsic or left ventricular paced right bundle branch block. A classic pattern was present in 11 of 25 subjects (44%), but this pattern would have been missed in four of 11 based only on the RV four-chamber (six-segment) model. Only three subjects underwent cardiac resynchronization therapy. Both subjects who had the classic pattern responded to cardiac resynchronization therapy, whereas the one nonresponder did not have the classic pattern. CONCLUSION: Systemic right ventricles demonstrated decreased function and increased mechanical dyssynchrony. The classic pattern of activation delay-induced mechanical dyssynchrony was frequently seen in this TGA-MS population and associated with activation delays. This comprehensive RV approach demonstrated incremental value.

Ventricular Tachycardia Following Surgical Repair of Complex Congenital Heart Disease.

A nine year old boy with complex congenital heart disease requiring right ventricular outflow tract surgery and palpitations had inducible monomorphic ventricular tachycardia at 300 bpm by programmed ventricular stimulation. He was treated with enteral phenytoin. With a therapeutic plasma level, repeat electrophysiological study was negative for inducible ventricular tachycardia using an aggressive pacing protocol. An insertable loop recorder was implanted, and the family was prescribed an automatic external defibrillator. The decision to not place an implantable cardioverter-defibrillator was based upon anticipated need for serial cardiac MRI scans to monitor the effect of progressive outflow tract stenosis and regurgitation.

Rapid ventricular pacing for a basilar artery pseudoaneurysm in a pediatric patient: case report.

Large cerebral aneurysms of the basilar apex are difficult to treat. Recently, endovascular treatment has mitigated much of the morbidity associated with treating these lesions. However, the morphology of aneurysms of the vertebrobasilar system can preclude endovascular treatment. Rapid ventricular pacing (RVP) facilitates open surgical treatment of cerebral aneurysms. It can assist in reducing the pressure of the neck of the aneurysm, allowing safe application of a clip. The authors present a case of a pediatric patient who developed a basilar artery pseudoaneurysm that required surgery. Given the large size of the aneurysm, RVP was performed, allowing the surgeons to dissect the dome of the aneurysm from the surrounding tissue and pontine perforating branches away from the lesion to safely clip the lesion. The patient had an uneventful recovery. To the authors' knowledge, this represents the first known case of RVP to aid in basilar artery clip occlusion in a pediatric patient.

Catecholaminergic polymorphic ventricular tachycardia in children: analysis of therapeutic strategies and outcomes from an international multicenter registry.

BACKGROUND: Catecholaminergic polymorphic ventricular tachycardia is an uncommon, potentially lethal, ion channelopathy. Standard therapies have high failure rates and little is known about treatment in children. Newer options such as flecainide and left cardiac sympathetic denervation are not well validated. We sought to define treatment outcomes in children with catecholaminergic polymorphic ventricular tachycardia. METHODS AND RESULTS: This is a Pediatric and Congenital Electrophysiology Society multicenter, retrospective cohort study of catecholaminergic polymorphic ventricular tachycardia patients diagnosed before 19 years of age. The cohort included 226 patients, including 170 probands and 56 relatives. Symptomatic presentation was reported in 176 (78%). Symptom onset occurred at 10.8 (interquartile range, 6.8-13.2) years with a delay to diagnosis of 0.5 (0-2.6) years. Syncope (P<0.001), cardiac arrest (P<0.001), and treatment failure (P=0.008) occurred more often in probands. ß-Blockers were prescribed in 205 of 211 patients (97%) on medication, and 25% experienced at least 1 treatment failure event. Implantable cardioverter defibrillators were placed in 121 (54%) and was associated with electrical storm in 22 (18%). Flecainide was used in 24% and left cardiac sympathetic denervation in 8%. Six deaths (3%) occurred during a cumulative follow-up of 788 patient-years. CONCLUSIONS: This study demonstrates a malignant phenotype and lengthy delay to diagnosis in catecholaminergic polymorphic ventricular tachycardia. Probands were typically severely affected. ß-Blockers were almost universally initiated; however, treatment failure, noncompliance and subtherapeutic dosing were often reported. Implantable cardioverter defibrillators were common despite numerous device-related complications. Treatment failure was rare in the quarter of patients on flecainide. Left cardiac sympathetic denervation was not uncommon although the indication was variable.

Thoracoscopic resection of the left atrial appendage after failed focal atrial tachycardia ablation.

BACKGROUND: This case series describes 3 patients with the unusual location of focal atrial tachycardia in the left atrial appendage who failed catheter ablation but were successfully treated by left atrial appendage resection by a totally thoracoscopic surgical technique. METHODS: In all 3 cases, left atrial appendage resection was carried out by video-assisted thoracoscopic surgery using only 3 5- to 10-mm incisions, eliminating the need for median sternotomy or thoracotomy. An endoscopic stapler was used to resect the left atrial appendage at its base, successfully eliminating the source of the patients' focal atrial tachycardia. RESULTS: The mean operative time was 84 minutes. All 3 patients tolerated the procedure without any complications and were discharged on postoperative day 3. At an average follow-up of 4.5 years, all patients remained asymptomatic and with normal ambulatory rhythm monitoring off all antiarrhythmic medications. CONCLUSIONS: Surgical resection of the left atrial appendage using a totally thoracoscopic approach is a safe and successful treatment option for patients who have failed endocardial catheter ablation. This novel approach utilizes smaller incisions and shorter operative times than the more invasive surgical techniques previously described in the literature.

Laser lead extraction in congenital heart disease: a case-controlled study.

INTRODUCTION: Patients with congenital heart disease (CHD) and implanted cardiac rhythm management devices have a high rate of endocardial lead issues requiring lead extraction. Laser lead extraction (LLE) is a promising modality for lead management though few studies have evaluated this technique in CHD. METHODS: This is a retrospective, case-controlled (gender- and age-matched, without CHD) analysis of all CHD patients from 2002-2010 at a single institution who underwent LLE as a primary extraction modality. The aim is to evaluate the utility of LLE in patients with CHD compared with controls without CHD. The primary outcome is LLE clinical success. Secondary outcomes include procedural success, complications, and factors related to LLE failure. RESULTS: Twenty-two patients with CHD underwent 24 LLE procedures to extract 35 leads. These were compared with 22 patients without CHD who underwent 24 LLE procedures to extract 37 leads. LLE clinical success was achieved for 26 of 35 leads (74%) in patients with CHD versus 35 of 37 leads (92%) in patients without CHD [P = 0.02]. No factors within the CHD group predicted LLE failure. Six of the nine leads for which LLE was unsuccessful were extracted using other methods. No complications were observed in the CHD group. CONCLUSIONS: Patients with CHD are less likely to have successful LLE than gender- and age-matched controls without CHD. LLE failures in CHD may be related to calcified adhesions. Mechanical-rotational devices and the femoral snare technique are useful for LLE failures. LLE provides an effective first-line approach for patients with CHD.

Pearls for ablation in congenital heart disease.

Tachyarrhythmias occur in patients having congenital heart disease most commonly related to surgically created or naturally occurring conduction obstacles, and to postoperative hemodynamic effects on cardiac muscle. Less frequently, the underlying disease is associated with tachycardia substrates. Thorough knowledge of the patient's congenital anatomy and surgical procedures is required before considering catheter ablation. In many instances, procedural considerations should include meticulous hemodynamic surveillance, analogous to patients having structurally normal heart but cardiomyopathy. This includes careful selection of sedating and anesthetic agents. Congenital heart defects that have a higher than expected incidence of naturally occurring tachyarrhythmia substrates include Ebstein anomaly of the tricuspid valve, congenitally corrected transposition, and some of the heterotaxies. Intraatrial reentry tachycardia and atrial flutter are especially prevalent following the Mustard or Senning operations for d-transposition of the great arteries and the earlier Fontan type operations. Although these tachyarrhythmias are not as frequent following atrial septal defect repair, the high incidence of this defect also makes these patients germaine to this discussion. Focal atrial tachyacrdia and atrioventricular nodal reentry tachycardia also occur in these patient groups. Macroreentry ventricular tachycardia occurs most frequently following right ventricular outflow tract surgery, especially following repair of tetralogy of Fallot. This article focuses on the technical aspects of catheter ablation of these arrhythmias, due to the challenges presented by the underlying anatomy compared with patients having normal hearts.

Functional status, heart rate, and rhythm abnormalities in 521 Fontan patients 6 to 18 years of age.

OBJECTIVES: Our objective was to determine the relationship between functional outcome and abnormalities of heart rate and rhythm after the Fontan operation. METHODS: The National Heart, Lung, and Blood Institute Pediatric Heart Network conducted a cross-sectional analysis of patients who had undergone a Fontan procedure at the 7 network centers. Analysis was based on 521 patients with an electrocardiogram (n = 509) and/or bicycle exercise test (n = 404). The Child Health Questionnaire parent report and the oxygen consumption at the anaerobic threshold were used as markers of functional outcome. RESULTS: Various Fontan procedures had been performed: intracardiac lateral tunnel (59%), atriopulmonary connection (14%), extracardiac later tunnel (13%), and extracardiac conduit (11%). Prior volume unloading surgery was performed in 389 patients: bidirectional Glenn (70%) and hemi-Fontan (26%). A history of atrial tachycardia was noted in 9.6% of patients and 13.1% of patients had a pacemaker. Lower resting heart rate and higher peak heart rate were each weakly associated with better functional status, as defined by higher anaerobic threshold (R = -0.18, P = .004, and R = 0.16, P = .007, respectively) and higher Child Health scores for physical functioning (R = -0.18, P < .001, and R = 0.17, P = .002, respectively). Higher anaerobic threshold was also independently associated with younger age and an abnormal P-axis. Resting bradycardia was not associated with anaerobic threshold or Child Health scores. CONCLUSIONS: In pediatric patients (6-18 years) after the Fontan procedure, a lower resting heart rate and a higher peak heart rate are each independently associated with better physical function as measured by anaerobic threshold and Child Health scores. However, these correlations are weak, suggesting that other, nonrhythm and nonrate, factors may have a greater impact on the functional outcome of pediatric patients after the Fontan operation.

Pacemaker lead prolapse through the pulmonary valve in children.

BACKGROUND: Transvenous pacemaker leads in children are often placed with redundant lead length to allow for anticipated patient growth. This excess lead may rarely prolapse into the pulmonary artery and potentially interfere with valve function. We sought to determine the response to lead repositioning on pulmonary valve insufficiency. METHODS: Retrospective reviews of demographics, lead type, implant duration, and radiography and echocardiography. RESULTS: A total of 11 pediatric patients were identified with lead prolapse through the pulmonary valve, of which nine patients underwent procedures to retract and reposition the lead (age at implant 9 +/- 4 years, age at revision 13 +/- 4 years). The implant duration prior to revision was 4 +/- 3 years. Two leads required radiofrequency extraction sheaths for removal, two pulled back using a snare, while five leads were simply retracted and repositioned. Tricuspid regurgitation was none/trivial (three), mild (four), or moderate (two) and only two improved with repositioning or replacement. Pulmonary regurgitation preoperatively was mild (three), mild-moderate (two), or moderate (four) compared with trivial (three), mild (four), and moderate (two) after revision. Patients with longer-term implanted leads had less improvement in pulmonary insufficiency. Two patients had mild pulmonary stenosis from lead-related obstruction. CONCLUSIONS: Prolapse of transvenous pacing leads into the pulmonary artery can occur when excess slack is left for growth. Leads can often be repositioned, but may require extraction and replacement, particularly if chronically implanted and adherent to valve apparatus. Lead revision does not always resolve pulmonary insufficiency, potentially leaving permanent valve damage.

Sudden cardiac death in young children with neurofibromatosis type 1.

Patients with neurofibromatosis type 1 (NF1) can manifest a characteristic vasculopathy that in adults is rarely associated with fatal coronary artery occlusion. We describe the clinical and pathological findings from 2 unrelated young children with NF1, a similar vasculopathy affecting their coronary arteries, and sudden cardiac death.

Glycogen storage diseases presenting as hypertrophic cardiomyopathy.

BACKGROUND: Unexplained left ventricular hypertrophy often prompts the diagnosis of hypertrophic cardiomyopathy, a sarcomere-protein gene disorder. Because mutations in the gene for AMP-activated protein kinase gamma2 (PRKAG2) cause an accumulation of cardiac glycogen and left ventricular hypertrophy that mimics hypertrophic cardiomyopathy, we hypothesized that hypertrophic cardiomyopathy might also be clinically misdiagnosed in patients with other mutations in genes regulating glycogen metabolism. METHODS: Genetic analyses performed in 75 consecutive unrelated patients with hypertrophic cardiomyopathy detected 40 sarcomere-protein mutations. In the remaining 35 patients, PRKAG2, lysosome-associated membrane protein 2 (LAMP2), alpha-galactosidase (GLA), and acid alpha-1,4-glucosidase (GAA) genes were studied. RESULTS: Gene defects causing Fabry's disease (GLA) and Pompe's disease (GAA) were not found, but two LAMP2 and one PRKAG2 mutations were identified in probands with prominent hypertrophy and electrophysiological abnormalities. These results prompted the study of two additional, independent series of patients. Genetic analyses of 20 subjects with massive hypertrophy (left ventricular wall thickness, > or =30 mm) but without electrophysiological abnormalities revealed mutations in neither LAMP2 nor PRKAG2. Genetic analyses of 24 subjects with increased left ventricular wall thickness and electrocardiograms suggesting ventricular preexcitation revealed four LAMP2 and seven PRKAG2 mutations. Clinical features associated with defects in LAMP2 included male sex, severe hypertrophy, early onset (at 8 to 17 years of age), ventricular preexcitation, and asymptomatic elevations of two serum proteins. CONCLUSIONS: LAMP2 mutations typically cause multisystem glycogen-storage disease (Danon's disease) but can also present as a primary cardiomyopathy. The glycogen-storage cardiomyopathy produced by LAMP2 or PRKAG2 mutations resembles hypertrophic cardiomyopathy but is distinguished by electrophysiological abnormalities, particularly ventricular preexcitation.