Malignant Ventricular Tachycardia Research Articles

Early experience with mechanical hemodynamic support for catheter ablation of malignant ventricular tachycardia

Objective: To explore the role of mechanical hemodynamic support (MHS) in mapping and catheter ablation of patients with hemodynamically unstable ventricular tachycardia (VT), report single-center experience in a cohort of consecutive patients receiving VT ablation during MHS therapy, and provide evidence-based medical evidence for clinical practice. Methods: This was a retrospective cohort study. Patients with hemodynamically unstable VT who underwent catheter ablation with MHS at Beijing Anzhen Hospital, Capital Medical University between August 2021 and December 2023 were included. Patients were divided into rescue group and preventive group according to the purpose of treatment. Their demographic data, periprocedural details, and clinical outcomes were collected and analyzed. Results: A total of 15 patients with hemodynamically unstable VT were included (8 patients in the rescue group and 7 patients in the preventive group). The acute procedure was successful in all patients. One patient in the rescue group had surgical left ventricular assist device (LVAD) implantation, remaining 14 patients received extracorporeal membrane oxygenation (ECMO) for circulation support. ECMO decannulation was performed in 12 patients due to clinical and hemodynamic stability, of which 6 patients were decannulation immediately after surgery and the remaining patients were decannulation at 2.0 (2.5) d after surgery. Two patients in the rescue group died during the index admission due to refractory heart failure and cerebral hemorrhage. During a median follow-up of 30 d (1 d to 12 months), one patient with LVAD had one episode of ventricular fibrillation at 6 months after discharge, and no further episodes of ventricular fibrillation and/or VT occurred after treatment with antiarrhythmic drugs. No malignant ventricular arrhythmia occurred in the remaining 12 patients who were followed up. Conclusions: MHS contributes to the successful completion of mapping and catheter ablation in patients with hemodynamically unstable VT, providing desirable hemodynamic status for emergency and elective conditions.

Ryanodine receptor stabilization therapy suppresses Ca2+- based arrhythmias in a novel model of metabolic HFpEF

Heart Failure with preserved ejection fraction (HFpEF) has a high rate of sudden cardiac death (SCD) and empirical treatment is ineffective. We developed a novel preclinical model of metabolic HFpEF that presents with stress-induced ventricular tachycardia (VT). Mechanistically, we discovered arrhythmogenic changes in intracellular Ca2+ handling distinct from the changes pathognomonic for heart failure with reduced ejection fraction. We further show that dantrolene, a stabilizer of the ryanodine receptor Ca2+ channel, attenuates HFpEF-associated arrhythmogenic Ca2+ handling in vitro and suppresses stress-induced VT in vivo. We propose ryanodine receptor stabilization as a mechanistic approach to mitigation of malignant VT in metabolic HFpEF.

Research on J wave detection based on transfer learning and VGG16

The J wave in the electrocardiogram indicates that the patient may suffer from malignant arrhythmia, ventricular tachycardia and other diseases, and the probability of sudden death is greatly increased. Due to the low incidence of J wave syndrome, J wave data in public databases are scarce, which hinders the research progress of J wave detection. Therefore, this study aims to automatically identify J wave signals, construct relevant datasets, and combine transfer learning with the pre-trained VGG16 model to detect J wave signals. Given the limited availability of J wave data, we utilized a local transformation method to simulate the generation of J wave signals. Subsequently, the simulated J wave signals underwent a continuous wavelet transform, converting them into grayscale images suitable for input into the pre-trained network. Finally, we fine-tuned the VGG16 network structure, which was initially trained on ImageNet, and modified the network for binary classification output for J wave data training. According to experimental results, this method achieves a 99.34 % accuracy rate, 99.35 % sensitivity, and 99.32 % specificity for the identification of J wave data. The aforementioned results outperform existing J wave research methodologies, effectively facilitating the identification of J wave signals.

Abstract #1601658: A Malignant Ventricular Tachycardia as an Initial Manifestation of Hyperthyroidism

Abstract #1601658: A Malignant Ventricular Tachycardia as an Initial Manifestation of Hyperthyroidism

Experience in applied veno-arterial extracorporeal membrane oxygenation to support catheter ablation of malignant ventricular tachycardia

BackgroundAn electrical storm due to malignant ventricular tachycardia (VT) is a life-threatening condition that requires catheter ablation (CA). Most VT arrhythmias evolve over time after acute myocardial infarction, coronary artery bypass grafting, or chronic heart failure. Clinically, only radiofrequency ablation can identify and block all arrhythmia origin points. The procedure necessitates continuous VT induction in patients, resulting in hemodynamic instability; therefore, extracorporeal membrane oxygenation (ECMO) support is required. Earlier studies have reported substantial mortality rates; however, our results are significantly more favorable. In this study, we combined the minimally invasive extracorporeal circulation (MiECC) approach with ECMO to preserve an appropriate ECMO flow rate, thus reducing intraoperative left heart afterload. We report 21 cases illustrating the usefulness of modified veno-arterial (VA)-ECMO in this scenario. MethodsData of 21 patients supported by the modified VA-ECMO system (MiECC approach combined with the ECMO system) during VT CA in the Wuhan Asia Heart Hospital between June 2020 and July 2021 were reviewed retrospectively. ResultsSuccessful ablation was achieved in 20 out of 21 patients (95%). The median time for ECMO implantation was 206 min. Only two patients experienced complications post-treatment. All patients made complete recovery and were discharged. All patients were alive at the 1-year-follow-up. ConclusionsOur modified VA-ECMO system helped restore systemic circulation in patients experiencing an electrical storm, thus achieving greater electrical stability during VT CA. Pre-insertion of VA-ECMO can achieve even better results.

The long-term outcome of malignant outflow tract ventricular tachycardia in patients without structural heart disease

Abstract Funding Acknowledgements Type of funding sources: None. Background Idiopathic ventricular tachycardia (VT) originating from the outflow tract (OT) is usually considered a benign condition. However, in some rare cases, patients with the malignant OT-VT suffer from syncope or even sudden cardiac death (SCD). Objectives The purpose of this study was to clarify the long-term clinical outcome of catheter ablation for malignant OT-VT with no sturctural heart disease (no SHD). Methods Fifty two consecutive patients (28 women and 24 men; mean age, 45 years; range, 20-77 years) ablated or implanted cardiac defibrillator (ICD) for malignant OT-VT were followed for median 5 years from 2001 to 2019. Primary end point defined recurrent VT/VF episodes. Result All 52 patients underwent electrophysiologic study (EPS). Among these patients, catheter ablation successfully elimiated VT focus in 37 (71.2%), partially suppressed VT in 9 (17.3%), and failed to controll VT in 6 (11.5%) [5 of 6 failed to induce clinical tachcyardia and 1 of 6 failed to ablate VT due to multipe PVC]. There was no acute procedureal complication. ICDs were implanted in 16 patients. 12 of these 16 patients were presented with VF or SCD. One of these 16 patients had recurrent VT in 3 years after ablation and three of 16 patients failed to induce clinical tachcyardia. During a mean follow up 58 months (range, 6-161 months), 19 (36.5%) of 52 patients suffered from recurrent VT/VF episodes. Among the 37 patients with successful ablation, 10 (27.0%) patients reached primary endpoints. More importantly, two patients (with only syncope and no prior VF) experienced SCD, one at 6 years after a successful ablation and the other at 3 years after partially modification of VT focus. Conclusion Catheter ablation for the malignant OT-VT in patients with no SHD showed safe and tolerable outcomes. It may consider as an early treatment option for these patients. However, even after the successful ablation, a periodical follow-up is crucial in some patients for preventing sudden cardiac deaths.

Critical Management of Accelerated Idioventricular Rhythm in Emergency Sitting, Review Article

The terminology "accelerated idioventricular rhythm" refers to an ectopic ventricular rhythm with three or more consecutive premature ventricular monomorphic beats with slow onset and end. That is slower than ventricular tachycardia but faster than the typical intrinsic escape rate of the ventricles, which is 30 to 40 beats per minute. Accelerated idioventricular rhythm differentiates from ventricular tachycardia in addition to having a positive outcome, a long coupling period at the beginning, a gradual drop-in ventricular rate at the conclusion, and an increase in sinus rate. After thrombolysis upon acute myocardial infarction, its presence is a sign that reperfusion was successful. Since malignant ventricular tachycardias are not commonly linked with accelerated idioventricular rhythm and the condition is typically hemodynamically well tolerated, no special therapy is typically required beyond managing the underlying heart condition. Accelerated idioventricular rhythm (AIVR) is usually benign, transitory, and untreatable. The goal of this observational study is to learn more about the clinical signs, prognosis, and therapy of frequent AIVR.

Defective ryanodine receptor N-terminus inter-subunit interaction is a common mechanism in neuromuscular and cardiac disorders.

The ryanodine receptor (RyR) is a homotetrameric channel mediating sarcoplasmic reticulum Ca2+ release required for skeletal and cardiac muscle contraction. Mutations in RyR1 and RyR2 lead to life-threatening malignant hyperthermia episodes and ventricular tachycardia, respectively. In this brief report, we use chemical cross-linking to demonstrate that pathogenic RyR1 R163C and RyR2 R169Q mutations reduce N-terminus domain (NTD) tetramerization. Introduction of positively-charged residues (Q168R, M399R) in the NTD-NTD inter-subunit interface normalizes RyR2-R169Q NTD tetramerization. These results indicate that perturbation of NTD-NTD inter-subunit interactions is an underlying molecular mechanism in both RyR1 and RyR2 pathophysiology. Importantly, our data provide proof of concept that stabilization of this critical RyR1/2 structure-function parameter offers clear therapeutic potential.

C20. Cardiac Arrest in COVID-19 Patient Presenting with Takotsubo Cardiomyopathy

Abstract Background Takotsubo cardiomyopathy (TC) presents as a result of catecholamine surge. There are increase of TC among COVID-19 patients, which is induced by cytokine storm. TC is previously known as a self-limiting and benign cardiac manifestation, but it has been uncovered that TC can be associated with fatal cardiac outcome due to cardiogenic shock and life-threatening arrhythmia. Clinical Presentation A 54-year-old woman presented to the emergency department with a fever since 9 days before admission accompanied by DOE, PND, and fatigue that worsened since 5 days before admission. Fifteen days before her complaints, she experience bereavement from his son death from motorcycle accident. She was referred from regional hospitals due to respiratory failure necessitating ventilator support. Physical examination revealed normal blood pressure and desaturation. ECG shows tachycardia with global ST-elevation. CXR shows cardiomegaly (CTR 62%) and pneumonia. The laboratory demonstrated increased Neutrophil to Lymphocyte Ratio (NLR), C-Reactive Protein, Troponin, and positive PCR COVID-19 swab. An echocardiography presented regional wall motion abnormality with apical ballooning appearance and reduced systolic function with LVEF of 51% resembling Takutsubo cardiomyopathy. Despite maximal ventilatory and pharmacology, she experienced malignant ventricular tachycardia not responding to defibrillation and expired in only 6 hours Discussion The presence of cardiac arrhythmia followed by cardiac arrest in COVID-19 patient complicated by TC can be a direct effect of catecholamine surge and myocardial injury or indirect effect from QT-prolongation and inflammatory process. Concurrent COVID-19 pneumonia and TC may progress with dismal prognosis, so that in need of prompt referral system.

C20. Cardiac Arrest in COVID-19 Patient Presenting with Takotsubo Cardiomyopathy

BackgroundTakotsubo cardiomyopathy (TC) presents as a result of catecholamine surge. There are increase of TC among COVID-19 patients, which is induced by cytokine storm. TC is previously known as a self-limiting and benign cardiac manifestation, but it has been uncovered that TC can be associated with fatal cardiac outcome due to cardiogenic shock and life-threatening arrhythmia.Clinical PresentationA 54-year-old woman presented to the emergency department with a fever since 9 days before admission accompanied by DOE, PND, and fatigue that worsened since 5 days before admission. Fifteen days before her complaints, she experience bereavement from his son death from motorcycle accident. She was referred from regional hospitals due to respiratory failure necessitating ventilator support. Physical examination revealed normal blood pressure and desaturation. ECG shows tachycardia with global ST-elevation. CXR shows cardiomegaly (CTR 62%) and pneumonia. The laboratory demonstrated increased Neutrophil to Lymphocyte Ratio (NLR), C-Reactive Protein, Troponin, and positive PCR COVID-19 swab. An echocardiography presented regional wall motion abnormality with apical ballooning appearance and reduced systolic function with LVEF of 51% resembling Takutsubo cardiomyopathy. Despite maximal ventilatory and pharmacology, she experienced malignant ventricular tachycardia not responding to defibrillation and expired in only 6 hoursDiscussionThe presence of cardiac arrhythmia followed by cardiac arrest in COVID-19 patient complicated by TC can be a direct effect of catecholamine surge and myocardial injury or indirect effect from QT-prolongation and inflammatory process. Concurrent COVID-19 pneumonia and TC may progress with dismal prognosis, so that in need of prompt referral system.

In-Hospital Cardiac Arrest after Emotional Stress in a Patient Hospitalized with Gastrointestinal Symptoms and Chronic Anxiety Disorder

Background: We report an acute emotional stress–induced in-hospital cardiac arrest in a patient admitted with gastrointestinal symptoms after experiencing chronic anxiety disorder. Case Presentation: The patient was admitted to the Second Xiangya Hospital, Central South University, with gastrointestinal symptoms and chronic anxiety disorder, and experienced cardiac arrest during hospitalization after acute emotional stress. Malignant ventricular tachycardia and cardiogenic shock were evidenced in this patient after the acute emotional stress. Severe and extensive coronary spasm was confirmed by emergency coronary angiography, and coronary spasm was relieved by intracoronary injection of nitroglycerin. The patient recovered from myocardial infarction with nonobstructive coronary arteries. However, the patient developed acute kidney dysfunction and severe pulmonary infection and eventually died of respiratory circulatory failure on the ninth day after the successful rescue. Conclusions: Acute emotional stress on top of chronic anxiety disorder in patients hospitalized for noncardiovascular reasons might lead to the development of life-threatening cardiovascular diseases, including coronary artery spasm and myocardial infarction with nonobstructive coronary arteries. Psychological management is of importance to improve the outcome of these patients.

Non-juvenile familial form of malignant catecholaminergic polymorphic ventricular tachycardia caused by a novel ryanodine receptor type 2 R4608Q mutation

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is a rare inherited channelopathy, responsible for potentially lethal malignant arrhythmic episodes. The index case was a 58-year-old woman who experienced aborted sudden cardiac arrest. The initial complete diagnostic work up (including norepinephrine challenge) was completely negative. She was implanted with an entirely subcutaneous defibrillator. During her follow-up, she received an appropriate electrical shock (ventricular fibrillation). Three sisters had sudden cardiac deaths (SCD) without etiology in the family history. There were no additional reports of pregnancy loss, neonatal death, seizures or SCD in family members. The genetic analysis revealed a Ryanodine Receptor type 2 R4608Q missense variant in this proband. Unfortunately, before the result of the proband's genetic analysis, her daughter experienced a SCD, whilst being implanted with an implantable loop recorder ( Fig. 1 ). A comprehensive genetic analysis was performed in the whole family using Next Generation Sequencing. All the carriers were treated with Nadolol 80 mg per day, and the follow-up was uneventful after six months. A novel Ryanodine Receptor type 2 R4608Q mutation is described in a non-juvenile familial form of CPVT.

Tp-e and (Tp-e)/QT ratio as a non-invasive risk factors for malignant ventricular arrhythmia in patients with idiopathic ventricular premature complexes.

BackgroundTo evaluate the role of Tp‐e and (Tp‐e)/QT ratio in differentiating benign ventricular premature complex (VPC) and malignant polymorphic ventricular tachycardia (PVT).MethodsFrom January 2017 to December 2017, patients with documented polymorphic ventricular tachycardia (PVT) or ventricular fibrillation (VF) were consecutive included and classified as PVT/VF group. Sixty age‐ and sex‐matched healthy individuals were recruited as comparative control and subdivided into non‐VPC and VPC group. Clinical characteristics and Tp‐e and Tp‐e/QT ratio between the three groups were compared.ResultsTp‐e and (Tp‐e)/QT ratio were significantly higher in patients of PVT/VF group compared with the other two groups (P < .001). Episodes of syncope were more frequent in patients with PVT/VF (P < .05). The sensitivity and specificity of a Tp‐e interval ≥86 ms for malignant arrhythmias triggered by VPCs were 88% and 66%, respectively, while the sensitivity and specificity of the Tp‐e/QT ratio ≥0.24 were 82% and 70%, respectively. Five patients complained recurrence of syncope in the PVT/VF group and 1 patient died with mean follow‐up of 18 months.ConclusionTp‐e interval and the Tp‐Te/QT ratio is significantly increased in patients with PVT/VF and may be used as a novel non‐invasive marker of differentiating malignant and benign VPC.

Does left ventricular function predict cardiac outcome in Anderson\u2013Fabry disease?

In Anderson–Fabry disease (AFD) the impact of left ventricular (LV) function on cardiac outcome is unknown. Noninvasive LV pressure–strain loop analysis is a new echocardiographic method to estimate myocardial work (MW). We aimed to evaluate whether LV function was associated with outcome and whether MW had a prognostic value in AFD. Ninety-six AFD patients (41.8 ± 14.7 years, 43.7% males) with normal LV ejection fraction were retrospectively evaluated. Inclusion criteria were sinus rhythm and ≥ 2-year follow-up. Standard echocardiography measurements, myocardial mechano-energetic efficiency (MEE) index, global longitudinal strain (GLS) and MW were evaluated. Adverse cardiac events were defined as composite of cardiac death, malignant ventricular tachycardia, atrial fibrillation and severe heart failure development. During a median follow-up of 63 months (interquartile range 37–85), 14 events occurred. Patient age, cardiac biomarkers, LV mass index, left atrium volume, E/Ea ratio, LV ejection fraction, MEE index, GLS and all MW indices were significantly related to adverse outcome at univariate analysis. After adjustment for clinical and echocardiographic parameters, which were significant at univariate analysis, GLS and MW resulted independent predictors of adverse events (p < 0.01). By ROC curve analysis, constructive MW ≤ 1513 mmHg% showed the highest sensitivity and specificity in predicting adverse outcome (92.9% and 86.6%, respectively). MW did not improve the predictive value of a model including clinical data, LV diastolic function and GLS. LV function impairment (both systolic and diastolic) is associated with adverse events in AFD. MW does not provide additive information over clinical features and systolic and diastolic function.

P919Ventricular arrhythmias in patients with mitral valve prolapse and severe mitral regurgitation

Abstract Background Mitral valve prolapse (MVP) is known to be associated with ventricular arrhythmias (VA), from symptomatic premature ventricular contractions (PVCs) to malignant ventricular tachycardia (VT) and sudden cardiac death (SCD). Previous studies identified risk factors for VA in these patients such as young woman, bileaflet prolapse and inverted T-waves, but they included only specific cohort of patients who experienced SCD or who had only trivial or mild mitral regurgitation (MR). The prevalence of VA and their potential risk factors in a population of MVP patients with severe MR are unknown. Purpose The aim of our study was to describe the prevalence of VA in patients who underwent mitral valve surgery for moderate to severe MR due to MVP and to identify clinical, electrocardiographic and echocardiographic parameters associated with VA. Methods 797 patients (65±12 years, 65% male) who underwent surgery for MVP were included from 2000 until 2018. The presence of VA was defined as symptomatic and frequent PVCs (Lown grade ≥2), non-sustained ventricular tachycardia (nsVT), VT or ventricular fibrillation (VF) documented before surgery and without an ischemic cause. The echocardiogram and electrocardiogram (ECG) prior to operation were used for the specific analysis. ECGs were checked for rhythm, conduction times, QRS morphology and inferior T-wave inversion. The origin of the PVCs was derived from a 12-lead ECG when available and divided in 5 groups; mitral annulus, papillary muscle (PM), left ventricle (LV, including outflow tract), right ventricle (including outflow tract) and other. By echocardiography, several parameters such as LV thickness and volumes, LV ejection fraction (EF), global longitudinal strain (GLS) and MR grade were obtained. Results A total of 99 (12%) patients showed VA; 70% (69/99) of the patients had symptomatic PVCs, 36% (36/99) had nsVT, 12% (12/99) VT and 3% (3/99) VF. 21 patients had more than one type of VA, of which the combination PVCs and nsVT was the most common (19/99, 19%). In addition, 6 patients experienced an out of hospital cardiac arrest of a non-ischemic cause. When comparing the clinical characteristics (Table), patients with VA were significantly younger (and with better renal function), more frequently diagnosed with Barlow's disease and experienced more palpitations as compared to patients without VA. The ECG analysis showed that patients with VA more often had inferior T-wave inversions and that the PVCs predominantly originated from the PM whereas in patients without VA the PVCs originated from different regions. Echocardiography showed that patients with VA had a thinner posterior wall, reduced LV EF and worse GLS; more severe MR was not associated with VA. Conclusion In MVP patients with moderate to severe MR undergoing surgery, Barlow's disease, inferior T-wave inversions, thinner posterior wall and LV systolic dysfunction are associated with the presence and development of VA.

The Feasibility of Arrhythmias Detection from A Capacitive ECG Measurement Using Convolutional Neural Network.

Capacitive ECG (cECG) can measure the cardiac electrical signal via capacitive coupling between electrodes and skin. This unconstrained measurement is suitable for personal heart monitoring; however, the instability in the quality of the signal hinders a further use of the signal. To use the cECG for heart monitoring, an adapted framework that could automatically classify the signal into clear cECG, arrhythmias and noise signal is a prerequisite. In view of this problem, the conventional quality estimation method using predefined features based on R-peak detection is not suitable for this unconstrained measurement of cECG. In this study, we examine the feasibility of arrhythmias detection from the cECG measurement using a convolutional neural network (CNN) model. The malignant ventricular tachycardia (VT) and ventricular fibrillation (VF) do not have the Q-R-S waveforms and therefore may be easily classified as the noise. Hence, in this study, we used the cECG signals that have 3 classes in quality (C1: clear signal; C2: blurry signal with significant R peak and N: noise) and the arrhythmias signals (VT, VF, and atrial fibrillation) from open databases to train the classification model. 13 subjects were recruited in an experiment for the cECG data collection in the Nara Institute of Science and Technology. As a result, the CNN model could recognize C1 and AF signal with over 0.98 recalls and precisions; whereas the recall and precision of VT and VF are lower scores and the lower scores were caused mainly by the similarity between VT and VF. Given the results of the CNN model, this CNN-based framework can accurately label the C1, AF, and malignant ventricular arrhythmias (VT and VF) signals. Further stratification of the C2, VT, and VF will further enhance the use of the cECG measurement.

Cardiac resynchronization therapy in congenital heart disease: Results from the German National Register for Congenital Heart Defects

BackgroundCardiac resynchronization therapy (CRT) is an established option for patients with heart failure. Limited data exists on indications and outcome of CRT in contemporary congenital heart disease (CHD) patients. Methods and resultsAll patients with CRT registered in the German National Register for Congenital Heart Defects were systematically identified. We analysed data on demographics, type of congenital defect as well as repair, associated conditions, indication for CRT, heart failure medication, combination with a defibrillator or pacemaker and outcome. Overall, 65 patients with CRT were identified. The most common congenital diagnoses were Tetralogy of Fallot (n = 11), congenitally corrected transposition of the great arteries (ccTGA) (n = 9) and double outlet right ventricle (n = 6). The majority of patients (n = 48, 87%) had conventional antibradycardia pacing or ICD indications. Of these, the majority (n = 44) underwent an upgrade to a CRT system to avoid the detrimental consequences of longstanding conventional ventricular single-site pacing, whereas four patients required an ICD due to heart failure and a history of malignant ventricular tachycardia. During a median follow-up of 6.9 years 19 patients developed complications: 16 patients experienced pacemaker lead dysfunction and 3 patients pacemaker infection. ConclusionsThe current study based on a large national register for CHD shows that CRT is feasible and can be used as an adjunct in the heart failure treatment of selected CHD patients. Uptake of this therapy proved to be low in this nationwide study and CRT implantation was largely used in patients with a pre-existing pacing indication or those requiring an ICD.

Malignant ventricular tachycardia and cardiac arrest induced by a micra™ leadless pacemaker

Leadless pacemaker implantation represents an important advancement in the treatment of bradycardia, and occupy an increasing part in the clinic. Major adverse effects associated with leadless pacemaker implantation are rare, with a serious complication being pericardial effusion. We present a case of a patient who had a leadless pacemaker implanted, which induced ventricular tachycardia and cardiac arrest during hospitalization.

Case report of familial sudden cardiac death caused by a DSG2 p.F531C mutation as genetic background when carrying with heterozygous KCNE5 p.D92E/E93X mutation

BackgroundSudden cardiac death (SCD) induced by malignant ventricular tachycardia (MVT) among young adults with right ventricular cardiomyopathy/dysplasia (ARVC/D) is a devastating event. Parts of ARVC/D patients have a mutation in genes encoding components of cardiac desmosomes, such as desmoglein-2 (DSG2), plakophilin-2 and desmoplakin.Case presentationHere we report a potentially pathogenic mutation in the DSG2 gene, which was identified in a family with ARVC/D using Whole Exome Sequencing (WES) and Sanger Sequencing. In all, Patient III:1 with ARVC/D carried the compound heterozygous mutations of DSG2 p.F531C and KCNE5 p.D92E/E93X, which were both inherited from her mother (II:2), who died of SCD. Carriers of DSG2p.F531C showed various phenotypes, such as ARVC/D, SCD, MVT and dilated cardiomyopathy. For III:1, there were significant low-voltage regions in the inferior-apical, inferior-lateral wall of the right ventricular epicardium and outflow tracts of the right ventricle. Under the guidance of a three-dimensional mapping system, MVT was successfully ablated with an epicardial–endocardial approach targeting for late, double or fragmental potentials after implantable cardioverter-defibrillator (ICD) electrical storms. No VT recurrence was observed during the one year of follow-up.ConclusionsWhen coexisting with heterozygous KCNE5 p.D92E/E93X, heterozygous DSG2 p.F531C as a genetic background was found to predispose to ARVC/D, SCD and MVT, which were successfully ablated using an epicardial–endocardial approach.

Waitlist Outcomes in a Contemporary Cohort of Heart Transplant Candidates with Continuous Flow Left Ventricular Assist Device Complications: Anticipated Performance of The New Heart Allocation Policy

Introduction The United Network for Organ Sharing (UNOS) has recently approved a revision of the allocation system which will discriminate between patients stable on left ventricular assist device (LVAD) support and those with device complications warranting status upgrade. This system was based upon allocation modeling from a cohort of heart transplant candidates/recipients from 2009-11, and specifically prioritizes patients with malignant ventricular tachycardia on LVAD (Tier 1), followed by device malfunctions (Tier 2), and the remainder of complications (Tier 3). We sought to determine whether the recently approved Tier system for device complications reflects waitlist outcomes in a more contemporary cohort. Methods The UNOS database was queried to identify all adult patients listed for a single-organ HT between January 1, 2011 and December 31, 2015. Those patients who had a contemporary continuous flow LVAD (Heartmate II (Abbott, Abbott Park, Illinois) or Heartware HVAD (Heartware, Framingham, MA) at listing, during listing, or at the time of transplant were identified. Only those patients who were upgraded to Status 1A (b) for device complication as defined by the 2013 OPTN/UNOS device complication guidance document were included in the analysis. The primary outcome of interest was death or delisting for worsening status at 60 days after status upgrade. Results We identified 15,518 patients who were listed for HT during the study period. Among these, 6584 (34.4%) were bridged to transplant LVAD. A total of 2252 (34.2%) were upgraded to Status 1A (b) for device complication, including infection (35.8%), device malfunction (13.9%), device thrombus (15.1%), life threatening ventricular arrhythmia (6.9%), with the remainder for other complications including right ventricular failure. The prevalence of death or delisting at 60 days after status 1A upgrade was higher in patients with life threatening arrhythmias (8.4%) as compared to those with device infection (p Conclusion Our analysis in this cohort of patients upgraded to Status 1A while awaiting HT with LVAD bridge supports the impending allocation system with regards to priority of device complications.