The clinical and genetic spectrum of catecholaminergic polymorphic ventricular tachycardia: findings from an international multicentre registry.

Aims: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an ion channelopathy characterized by ventricular arrhythmia during exertion or stress. Mutations in RYR2-coded Ryanodine Receptor-2 (RyR2) and CASQ2-coded Calsequestrin-2 (CASQ2) genes underlie CPVT1 and CPVT2, respectively. However, prognostic markers are scarce. We sought to better characterize the phenotypic and genotypic spectrum of CPVT, and utilize molecular modelling to help account for clinical phenotypes. Methods and results: This is a Pediatric and Congenital Electrophysiology Society multicentre, retrospective cohort study of CPVT patients diagnosed at <19 years of age and their first-degree relatives. Genetic testing was undertaken in 194 of 236 subjects (82%) during 3.5 (1.4-5.3) years of follow-up. The majority (60%) had RyR2-associated CPVT1. Variant locations were predicted based on a 3D structural model of RyR2. Specific residues appear to have key structural importance, supported by an association between cardiac arrest and mutations in the intersubunit interface of the N-terminus, and the S4-S5 linker and helices S5 and S6 of the RyR2 C-terminus. In approximately one quarter of symptomatic patients, cardiac events were precipitated by only normal wakeful activities. Conclusion: This large, multicentre study identifies contemporary challenges related to the diagnosis and prognostication of CPVT patients. Structural modelling of RyR2 can improve our understanding severe CPVT phenotypes. Wakeful rest, rather than exertion, often precipitated life-threatening cardiac events.

Acquired and congenital coronary artery abnormalities.

Sudden unexpected cardiac deaths in approximately 20% of young athletes are due to acquired or congenital coronary artery abnormalities. Kawasaki disease is the leading cause for acquired coronary artery abnormalities, which can cause late coronary artery sequelae including aneurysms, stenosis, and thrombosis, leading to myocardial ischaemia and ventricular fibrillation. Patients with anomalous left coronary artery from the pulmonary artery can develop adequate collateral circulation from the right coronary artery in the newborn period, which remains asymptomatic only to manifest in adulthood with myocardial ischaemia, ventricular arrhythmias, and sudden death. Anomalous origin of coronary artery from the opposite sinus occurs in 0.7% of the young general population aged between 11 and 15 years. If the anomalous coronary artery courses between the pulmonary artery and the aorta, sudden cardiac death may occur during or shortly after vigorous exercise, especially in patients where the anomalous left coronary artery originates from the right sinus of Valsalva. Symptomatic patients with evidence of ischaemia should have surgical correction. No treatment is needed for asymptomatic patients with an anomalous right coronary artery from the left sinus of Valsalva. At present, there is no consensus regarding how to manage asymptomatic patients with anomalous left coronary artery from the right sinus of Valsalva and interarterial course. Myocardial bridging is commonly observed in cardiac catheterisation and it rarely causes exercise-induced coronary syndrome or cardiac death. In symptomatic patients, refractory or ß-blocker treatment and surgical un-bridging may be considered.

Low recurrence rate in treating atrioventricular nodal reentrant tachycardia with triple freeze-thaw cycles.

BACKGROUND: Cryoablation is an alternative to radiofrequency ablation in treating atrioventricular nodal reentrant tachycardia (AVNRT). However, its long-term effectiveness is in question when compared to radiofrequency ablation. We reviewed the results of cryoablation in children with AVNRT at our institute. METHODS: We performed a retrospective single-center chart review of consecutive patients ≤18 years of age with AVNRT who underwent cryoablation between January 2007 and August 2009. During cryoablation, a 6-mm-tip cryocatheter was used with temperature set to -80°C. Test lesions were performed at the presumed slow pathway location based on combined anatomic and electrophysiologic approach. If successful, ablation was then continued with triple freeze-thaw cycles (FTC) of 4 minutes each. RESULTS: A total of 53 patients (age range: 6.1-18.4 years, mean: 13.6 years, median: 13.2 years) underwent slow pathway modification with cryoablation. Acute success was achieved in 51 (96.2%) cases. Transient atrioventricular block was seen in 19 cases. The block occurred during FTC in eight patients (15%). The number of FTC was three in 47 (92.2%) patients. Less than three FTC were given in two patients due to transient heart block and four FTC were given in two patients with suspected catheter movement. Procedure duration was 177 ± 56 minutes; fluoroscopic time was 14 ± 11 minutes. Mean follow-up was 30.7 ± 10 (range 12-52, median 31) months. Recurrence of supraventricular tachycardia was seen in only one (1.96%) patient. CONCLUSIONS: Triple FTC cryoablation lesions resulted in a low recurrence rate comparable to RF ablation in treating AVNRT without increased complications.

Quality of life and psychosocial functioning of children with cardiac arrhythmias.

Childhood cardiac arrhythmias may have a long-lasting impact on a family and typically require long-term medical follow-up. Whereas some arrhythmias are benign, others can be life threatening and require significant medical care. As with many chronic illnesses, it is important to study the potential psychosocial effects of childhood arrhythmias and how they may impact a child's quality of life. The purpose of this study was to create a quality of life measure specific to childhood arrhythmias and to describe the current psychosocial functioning of this population. A total of 46 families participated in a one-time paper and pencil assessment during their regularly scheduled clinic visits. Results indicated promise for the validity and reliability of this new measure. Children in the current sample also demonstrated a high degree of resiliency. Additional analyses with larger samples will be needed to verify the psychometric properties of this measure. Overall, the high functioning of many of these children despite medical trauma is promising. Future studies should consider using some screening measures to decide which children may be most in need of intervention.

Impact and Modifiers of Ventricular Pacing in Patients With Single Ventricle Circulation.

BACKGROUND: Palliation of the single ventricle (SV) circulation is associated with a burden of lifelong complications. Previous studies have identified that the need for a permanent ventricular pacing system (PPMv) may be associated with additional adverse long-term outcomes. OBJECTIVES: The goal of this study was to quantify the attributable risk of PPMv in patients with SV, and to identify modifiable risk factors. METHODS: This international study was sponsored by the Pediatric and Congenital Electrophysiology Society. Centers contributed baseline and longitudinal data for functionally SV patients with PPMv. Enrollment was at implantation. Controls were matched 1:1 to PPMv subjects by ventricular morphology and sex, identified within center, and enrolled at matched age. Primary outcome was transplantation or death. RESULTS: In total, 236 PPMv subjects and 213 matched controls were identified (22 centers, 9 countries). Median age at enrollment was 5.3 years (quartiles: 1.5-13.2 years), follow-up 6.9 years (3.4-11.6 years). Median percent ventricular pacing (Vp) was 90.8% (25th-75th percentile: 4.3%-100%) in the PPMv cohort. Across 213 matched pairs, multivariable HR for death/transplant associated with PPMv was 3.8 (95% CI 1.9-7.6; P < 0.001). Within the PPMv population, higher Vp (HR: 1.009 per %; P = 0.009), higher QRS z-score (HR: 1.19; P = 0.009) and nonapical lead position (HR: 2.17; P = 0.042) were all associated with death/transplantation. CONCLUSIONS: PPMv in patients with SV is associated with increased risk of heart transplantation and death, despite controlling for increased associated morbidity of the PPMv cohort. Increased Vp, higher QRS z-score, and nonapical ventricular lead position are all associated with higher risk of adverse outcome and may be modifiable risk factors.

Focal atrial tachycardia originating from the donor superior vena cava after bicaval orthotopic heart transplantation.

An 11-year-old boy, who underwent bicaval orthotopic heart transplantation for idiopathic dilated cardiomyopathy, had a focal atrial tachycardia originating from the donor superior vena cava. The pathogenesis of this tachycardia may be related to transplant rejection or transplant vasculopathy. Radiofrequency catheter ablation can eliminate this unique tachycardia and result in hemodynamic improvement.

Using coronary sinus ostium as the reference for the slow pathway ablation of atrioventricular nodal reentrant tachycardia in children.

BACKGROUND: Successful slow pathway (SP) ablation sites for atrioventricular nodal reentrant tachycardia (AVNRT) are usually located inside the Koch's triangle (KT). This study aimed to determine the ablation site of SP using the coronary sinus (CS) ostium (CSO) as the reference and to evaluate the efficacy of the CSO-guided SP ablation. METHODS: A regional geometry around the KT was constructed by 3D mapping in 52 consecutive patients under age 18 with AVNRT. SP cryoablation was performed. If initial cryoablation was unsuccessful or cryoablation was deemed not suitable, then radiofrequency (RF) ablation was performed. The successful ablation site direction relative to the CSO was expressed as o'clock with the CSO viewed as a clock. RESULTS: Cryoablation was used as the primary energy source in 40 patients. Of which, 32 were successful and eight required additional RF ablation. Direct RF ablation was performed in 11 patients. Using the CSO as reference, the successful site with cryoablation was at its 2.2 ± 0.6 o'clock; the RF ablation success site was at CSO 2.7 ± 0.5 o'clock (P = .006). During a median follow-up of 12 month, there was 98% success of SP ablation in these patients, with one patient with RF ablation had a tachycardia recurrence. CONCLUSIONS: Using CSO as reference, the cryoablation site at its 2:00 o'clock and RF ablation at its 3:00 o'clock are highly efficacious for SP ablation with good short-term outcomes, and may be a useful tool in guiding the ablation target for AVNRT.

Possible Propofol-Induced Priapism Following Cardiac Catheter Ablation in a Teenager.

BACKGROUND Priapism is rarely reported as a potential complication after the cardiac ablation procedure. We report the case of a teenager admitted for atrial flutter ablation who developed priapism following the procedure. CASE REPORT A 16-year-old male with episodic atrial flutter came to our hospital for an electrophysiological study and catheter ablation. During the procedure, he was given IV propofol for anesthesia and IV heparin for anticoagulation. After the procedure, nursing noted that he had an erection, which persisted for 5 h, with complaints of discomfort. There was no known history of sickle cell disease or trauma to the perineum, nor did he endorse any prior prolonged erections. On physical examination, he had a circumcised phallus with rigid and non-tender corpora cavernosa. He was given 5 mg terbutaline PO, without improvement. Three hours later, a second dose of terbutaline was given. In addition, a penis corporal venous blood gas was taken, and the result was consistent with an ischemic priapism. He had detumescence 1-2 min later. The total duration of his priapism was 8 h. There was no swelling, pain, or any sequelae after detumescence. CONCLUSIONS Although priapism rarely occurs as a complication following catheter ablation procedures due to propofol use, prolonged priapism can result in corporal fibrosis and cause future erectile dysfunction. Recognition and treatment of priapism in the postoperative period may be delayed due to a patient's hesitance to express concerns. To prevent future erectile dysfunction, signs of priapism should be included in routine postoperative evaluation in male patients.

Asymptomatic Idiopathic Belhassen Ventricular Tachycardia in a Neonate Detected Using 'Smart Sock' Wearable Smartphone-Enabled Cardiac Monitoring.

BACKGROUND Wearable smartphone-enabled cardiac monitoring devices can aid the diagnosis of asymptomatic tachycardia in neonates and infants. This report is of a rare case of left posterior fascicular ventricular tachycardia of Belhassen type detected in a neonate by 'smart sock' cardiac monitoring. CASE REPORT A premature baby boy at 37 weeks gestational age was discharged home after three days without complication, and was given 'smart socks' to wear. He was followed up daily for the management of hyperbilirubinemia, which was treated in the outpatient clinic with a phototherapy blanket. He was admitted to the emergency room (ER) at 6 days of age because his 'smart socks' identified a tachycardia of between 180-200 bpm. His parents reported no fever, cough, nasal congestion, or emesis. On examination in the ER, he was alert with no distress. An electrocardiogram (ECG) showed a sustained monomorphic and wide QRS tachycardia with a heart rate of 200 bpm, right bundle branch block (RBBB), and a superior axis that was compatible with a diagnosis of left posterior fascicular ventricular tachycardia of Belhassen type. The echocardiogram showed a structurally normal heart with normal cardiac function. His tachycardia spontaneously converted to normal sinus rhythm after four hours. He was discharged home three days later without further episodes of tachycardia. Cardiac monitoring using 'smart socks' continued at home, and no further arrhythmias were detected at one year of age. CONCLUSIONS The home use of smartphone-enabled technology to monitor the neonatal and infant cardiac heart rate can identify asymptomatic arrhythmias.

External Cardioversion-Defibrillation with Pushing Down on the Chest Wall to Increase the Success Rate in Obese Patients.

BACKGROUND The energy delivered by a defibrillator is expressed in joules (J). However, current is what actually defibrillates the heart and is related to the voltage-to-impedance ratio. With the same energy, the lower the transthoracic impedance, the higher the current delivered. In obese patients, pushing the chest wall toward the heart during electric shock can result in an improved outcome. CASE REPORT We report the cases of 3 obese patients with previously failed cardioversion/defibrillation who had an eventual shock success. (1) A 17-year-old girl failed multiple defibrillation efforts for her recurrent ventricular fibrillation. After ECMO, with the physician pushing down the chest wall, a 200-J defibrillation converted her VF. (2) A 63-year-old man with recurrent atrial fibrillation (AF) had an unsuccessful 150-J shock followed by a successful 200-J cardioversion. His AF recurred. After amiodarone bolus, a 200-J shock converted it to sinus. Another recurrent AF failed 150-J cardioversion. With chest pushing down, a 150-J cardioversion was successful. (3) A 65-year-old man underwent elective cardioversion for AF. A 200-J shock was unsuccessful. A 200-J shock with pressure on the chest successfully converted it. CONCLUSIONS We performed successful electrical cardioversion/defibrillation with this "pushing down the chest while shocking" method. Many clinicians are still unaware of this method, especially in obese patients. With the increasing prevalence of obesity, it is urgent to perform a randomized study to confirm the efficacy and safety of this method, and integrate it into advanced cardiac life support protocols.

Genotype Predicts Outcomes in Fetuses and Neonates With Severe Congenital Long QT Syndrome.

OBJECTIVES: This study sought to determine the relationship between long QT syndrome (LQTS) subtype (LTQ1, LTQ2, LTQ3) and postnatal cardiac events (CEs). BACKGROUND: LQTS presenting with 2:1 atrioventricular block or torsades de pointes in the fetus and/or neonate has been associated with risk for major CEs, but overall outcomes and predictors remain unknown. METHODS: A retrospective study involving 25 international centers evaluated the course of fetuses/newborns diagnosed with congenital LQTS and either 2:1 atrioventricular block or torsades de pointes. The primary outcomes were age at first CE after dismissal from the newborn hospitalization and death and/or cardiac transplantation during follow-up. CE was defined as aborted cardiac arrest, appropriate shock from implantable cardioverter-defibrillator, or sudden cardiac death. RESULTS: A total of 84 fetuses and/or neonates were identified with LQTS (12 as LQT1, 35 as LQT2, 37 as LQT3). Median gestational age at delivery was 37 weeks (interquartile range: 35 to 39 weeks) and age at hospital discharge was 3 weeks (interquartile range: 2 to 5 weeks). Fetal demise occurred in 2 and pre-discharge death in 1. Over a median of 5.2 years, there were 1 LQT1, 3 LQT2, and 23 LQT3 CEs (13 aborted cardiac arrests, 5 sudden cardiac deaths, and 9 appropriate shocks). One patient with LQT1 and 11 patients with LQT3 died or received cardiac transplant during follow-up. The only multivariate predictor of post-discharge CEs was LQT3 status (LQT3 vs. LQT2: hazard ratio: 8.4; 95% confidence interval: 2.6 to 38.9; p < 0.001), and LQT3, relative to LQT2, genotype predicted death and/or cardiac transplant (p < 0.001). CONCLUSIONS: In this large multicenter study, fetuses and/or neonates with LQT3 but not those with LQT1 or LQT2 presenting with severe arrhythmias were at high risk of not only frequent, but lethal CEs.

Short QT syndrome in a pediatric patient.

Short QT syndrome (SQTS) is a recently described genetic syndrome characterized by abnormally brisk ventricular repolarization. Similar to long QT syndrome, SQTS might result in ventricular arrhythmias, syncope, and sudden death. The clinical diagnosis of SQTS is supported by the finding of an abnormally short QT interval on the resting electrocardiogram in combination with a suggestive clinical or family history. To date, few pediatric cases have been reported and the ideal therapy is unknown. We report a teenage boy who suffered a witnessed ventricular fibrillation arrest and was subsequently diagnosed with SQTS. Additional data from nine other pediatric patients diagnosed with SQTS are presented.

Senning Procedure for Physiological Atrial Inversion With Left Atrial Isomerism.

We present the case of an infant with left atrial isomerism with complex pulmonary and systemic venous connections that resulted in physiological parallel circulation in the setting of ventriculoarterial concordance who was surgically treated using the Senning procedure. This case highlights a rare cause for cyanosis due to poor mixing from a parallel circulation and an issue with nomenclature. (Level of Difficulty: Advanced.).

Relation Between New York Heart Association Functional Class and Objective Measures of Cardiopulmonary Exercise in Adults With Congenital Heart Disease.

We aimed to compare New York Heart Association (NYHA) functional class in adult congenital heart disease (ACHD) patients with objectively measured cardiopulmonary exercise testing (CPET) parameters. This study included retrospective review of ACHD patients who underwent a CPET between August 2014 and April 2018 at our center. Patients were grouped according to severity of CHD, and NYHA class as recorded in their medical record or estimated from the clinical narrative. A total of 175 ACHD patients (mean age 30 ± 11 years) with NYHA class I-III enrolled in the study. The NYHA functional class was II or III in most complex CHD. There was a strong inverse relation between NYHA class and peak oxygen consumption, oxygen uptake efficiency slope, and the double product at peak exercise (product of heart rate and systolic blood pressure) (p<0.0001). There was no relation between NYHA class and ventilation efficiency slope (p = 0.37). In conclusion, NYHA functional class correlates with objective measures of CPET, however there is wide variability in measured exercise capacity in each NYHA classification. Therefore, whereas NYHA class of patients is a simple measure for assessment of functional status, CPET is an important tool to identify the source of exercise limitation in ACHD patients.

What have we learned in the last 20 years? A comparison of a modern era pediatric and congenital catheter ablation registry to previous pediatric ablation registries.

BACKGROUND: Since the onset of pediatric catheter ablation, the pediatric electrophysiology community has reported outcomes via various registries (PAPCA [Prospective Assessment After Pediatric Cardiac Ablation], PCAR [Pediatric Catheter Ablation Registry]). Most recently, a modern era pediatric and congenital ablation registry (MAP-IT [Multicenter Pediatric and Congenital EP Quality Initiative]) was developed for eventual incorporation into the National Cardiovascular Data Registry (NCDR) IMPACT (Improving Pediatric and Adult Congenital Treatment) registry. OBJECTIVE: The purpose of this study was to describe initial findings from the MAP-IT pilot registry and to compare these findings to earlier registries. METHODS: Before entering the NCDR IMPACT registry, MAP-IT was active at 12 centers (11 in the United States) between October 2014 and April 2016. All electrophysiological studies for patients younger than 21 years and for patients of all ages with structural congenital heart disease were included. We compared the acute success, fluoroscopy and procedural times, and frequency of complications between MAP-IT and the earlier registries. RESULTS: Acute success rates have improved from the initial PCAR registry for both accessory and slow pathway substrates. Both fluoroscopy and procedural times have significantly decreased across the time periods (fluoroscopy time 47.6 ± 40 minutes to 7.0 ± 9.2 minutes; P <.001; procedural time 257 ± 157 minutes to 166 ± 84 minutes; P <.001). CONCLUSION: Acute success rates and fluoroscopy and procedural times in pediatric ablation all have improved over the last 25 years.

The most common site of success and its predictors in radiofrequency catheter ablation of the slow atrioventricular nodal pathway in children.

BACKGROUND: Locating ablation targets on the slow pathway in children as one would in adults may not accommodate the dimensional changes of Koch's triangle that occur with heart growth. We investigated the most common site of success and the effect of a variety of variables on the outcome of slow pathway ablation in children. METHODS: A total of 116 patients (ages 4-16 years) with structurally normal hearts underwent radiofrequency ablation of either the antegrade or the retrograde slow pathway. Ablation sites were divided into eight regions (A1, A2, M1, M2, P1, P2, CS1, and CS2) at the septal tricuspid annulus. RESULTS: Ablation was successful in 112 (97%) children. The most common successful ablation sites were at the P1 region. The less the patient weighed, the more posteriorly the successful site was located (P = 0.023, OR 0.970, 95% CI 0.946-0.996), and the more likely the slow pathway was eliminated rather than modified: median weight was 46.7 kg (range, 14.5-94.3 kg) in the eliminated group and 56.5 kg (range, 20-82.6 kg) in the modified group (P = 0.021, OR 1.039, 95% CI 1.006-1.073). CONCLUSIONS: The most common site of success for slow pathway ablation in children is at the P1 region of the tricuspid annulus. The successful sites in lighter children are more posteriorly located. Weight is also a predictor of whether the slow pathway is eliminated or only modified.

A Case of Lown-Ganong-Levine Syndrome: Due to an Accessory Pathway of James Fibers or Enhanced Atrioventricular Nodal Conduction (EAVNC)?

BACKGROUND Lown-Ganong-Levine syndrome, includes a short PR interval, normal QRS complex, and paroxysmal tachycardia. The pathophysiology of this syndrome includes an accessory pathway connecting the atria and the atrioventricular (AV) node (James fiber), or between the atria and the His bundle (Brechenmacher fiber). Similar features are seen in enhanced atrioventricular nodal conduction (EAVNC), with the underlying pathophysiology due to a fast pathway to the AV node, and with the diagnosis requiring specific electrophysiologic criteria. CASE REPORT A 17-year-old man presented with a history of recurrent narrow-complex and wide-complex tachycardia on electrocardiogram (ECG). An electrophysiologic study showed an unusually short atrial to His (AH) conduction interval and a normal His to ventricle (HV) interval, without a delta wave. Two stable AH intervals coexisted in the same atrial pacing cycle length. In the recovery curve study, this pathway had a flat conduction curve without an AH increase until the last 60 ms, before reaching the effective refractory period. These ECG changes did not respond to an adenosine challenge. When this pathway became intermittent, there was a paradoxical response to adenosine challenge with conduction via a short AH interval, but without conduction block. Catheter ablation of the AV nodal region resulted in a normalized AH interval, decremental conduction properties, and resulted in a positive response to an adenosine challenge. CONCLUSIONS In this case of Lown-Ganong-Levine syndrome, electrophysiologic studies supported the role of the accessory pathway of James fibers.

High Output Cardiac Failure Resolving after Repair of AV Fistula in a Six-Month-Old.

Background. Acquired AVF in pediatrics are commonly caused by iatrogenic means, including arterial or venous punctures. These fistulae can cause great hemodynamic stress on the heart as soon as they are created. Case. A six-month-old 25-week gestation infant was referred for respiratory distress. Initial exam revealed tachypnea, tachycardia, and hypertension. There was a bruit noted on her left arm. An ultrasound showed an arteriovenous fistula. Its location, however, precluded intervention because of the high risk for limb-loss. An echocardiogram showed evidence of pulmonary hypertension that was treated with sildenafil and furosemide. However, no improvement was seen. On temporary manual occlusion of the fistula, the patient was noted to have increased her blood pressure and decreased her heart rate, suggesting significant hemodynamic effect of the fistula. The fistula was subsequently ligated and the patient clinically and echocardiographically improved. Conclusion. A patient in high output cardiac failure or pulmonary artery hypertension, especially prematüre patients with preexisting lung disease, should be probed for history of multiple punctures, trauma, or surgery and should have prompt evaluation for AVF. If it can be diagnosed and repaired, most of the cases have been shown to decrease the stress on the heart and reverse the pathologic hemodynamics.

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.