Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy According to Revised 2010 Task Force Criteria With Inclusion of Non-Desmosomal Phospholamban Mutation Carriers

2013 ◽  
Vol 112 (8) ◽  
pp. 1197-1206 ◽  
Author(s):  
Judith A. Groeneweg ◽  
Paul A. van der Zwaag ◽  
Louise R.A. Olde Nordkamp ◽  
Hennie Bikker ◽  
Jan D.H. Jongbloed ◽  
...  
Keyword(s):  
Right Ventricular ◽  
Task Force ◽  
Arrhythmogenic Right Ventricular Dysplasia ◽  
Right Ventricular Dysplasia ◽  
Mutation Carriers

Abstract 15002: Towards Unmasking Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy in the Early Concealed Stage

Circulation ◽  
2014 ◽  
Vol 130 (suppl_2) ◽  
Author(s):  
Thomas P Mast ◽  
Arco J Teske ◽  
Jeroen F vd Heijden ◽  
Judith A Groeneweg ◽  
Pieter A Doevendans ◽  
...  
Keyword(s):  
Right Ventricular ◽  
Arrhythmogenic Right Ventricular Dysplasia ◽  
Tissue Doppler ◽  
Doppler Imaging ◽  
Apical Region ◽  
Free Wall ◽  
Right Ventricular Dysplasia ◽  
Mutation Carriers ◽  
Increased Risk ◽  
Repolarization Abnormalities

Background: The concealed stage of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is associated with increased risk of sudden cardiac death. However, particular at this stage disease detection is hampered by absence of criteria. Activation delay (AD) is a hallmark of arrhythmogenesis in ARVD/C. Echocardiographic tissue Doppler imaging (TDI) may unmask AD in the absence of electrocardiographic (ECG) abnormalities. Methods: Three groups were compared 1) symptomatic definite ARVD/C patients with a mutation in the Plakophilin-2 ( PKP2) gene (n=37), 2) asymptomatic PKP2 mutation carriers (n=20) and 3) healthy controls (n=30). All groups underwent full echocardiographic examination with additional TDI of the right ventricular (RV) free wall and a routine 12-lead ECG recording. As surrogate for AD the electro-mechanical interval (EMI) was measured, defined as time between local first electrical deflection and local onset of mechanical shortening. EMI was measured in the subtricuspid, mid and apical region of the RV free wall. Detailed ECG analysis of depolarization (AD analysis) and repolarization abnormalities was performed in all subjects. Results: EMI was prolonged in all RV segments in ARVD/C patients compared to controls. Abnormal depolarization and repolarization was recorded in respectively 23 and 27 ARVD/C patients. In asymptomatic mutation carriers EMI was significantly prolonged in the subtricuspid area (Table 1). However, the ECG showed in 5/20 subjects only prolonged terminal activation duration and no repolarization abnormalities. Conclusion: TDI unmasks AD in both ARVD/C patients and asymptomatic mutation carriers. In asymptomatic mutation carriers EMI is prolonged in the subtricuspid area, whereas ECG appeared normal in the large majority. AD in the subtricuspid area is an early sign of disease in the concealed ARVD/C stage and may contribute to advanced risk stratification. Table 1: Results

Abstract 9395: The Clinical Role of Atrial Fibrillation in Patients with Arrhythmogenic Right Ventricular Dysplasia

Circulation ◽  
2014 ◽  
Vol 130 (suppl_2) ◽  
Author(s):  
Ardan M Saguner ◽  
Samuel Baldinger ◽  
Argelia Medeiros-Domingo ◽  
Sabrina Ganahl ◽  
Felix C Tanner ◽  
...  
Keyword(s):  
Atrial Fibrillation ◽  
Right Ventricular ◽  
Cardiac Death ◽  
Task Force ◽  
Tertiary Care ◽  
Arrhythmogenic Right Ventricular Dysplasia ◽  
Right Atrial ◽  
Clinical Role ◽  
Right Ventricular Dysplasia ◽  
Increased Risk

Introduction: Atrial fibrillation/flutter (Afib/Aflu) in general, and clinical variables predicting Afib/Aflu in particular, are not well defined in patients with arrhythmogenic right ventricular dysplasia (ARVD). Hypothesis: We hypothesized that transthoracic echocardiography (TTE) and ECG could be helpful to predict Afib/Aflu in these patients. Methods and Results: 12-lead ECGs and TTEs of 90 patients from three tertiary-care centers diagnosed with definite or borderline ARVD according to the 2010 Task Force Criteria were analyzed. Data were compared in two patient groups: (1) patients with Afib/Aflu and (2) all other patients. Eighteen (20%) patients experienced Afib/Aflu during a follow-up period of 5.8 years (interquartile range 2.0-10.4 years). Kaplan-Meier analysis (Figure) revealed reduced times to Afib/Aflu among patients with echocardiographic RV fractional area change <27% (p<0.001), left atrial diameter ≥24.4 mm/m2 (p=0.001), and right atrial short axis diameter ≥22.1 mm/m2 (p=0.05). From all ECG variables, P sinistroatriale conferred the highest hazard ratio (3.37, 95% CI 0.92-12.36, p=0.067). Five patients with Afib/Aflu experienced inappropriate ICD shocks compared to four patients without Afib/Aflu (36% vs. 9%, p=0.03). Presence of Afib/Aflu was more prevalent in heart transplanted patients and in those who succumbed to cardiac death compared to the remaining patients (56% vs. 16%, p=0.014). Conclusions: Afib/Aflu are associated with inappropriate ICD shocks, heart transplantation, and cardiac death in patients with ARVD. Echocardiographic evidence of reduced RV function and atrial dilation helps to identify those ARVD patients being at increased risk for Afib/Aflu, which may help to guide individual patient management.

Abstract 10906: Heart Failure is Common and Under Recognized in Patients With Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

Circulation ◽  
2015 ◽  
Vol 132 (suppl_3) ◽  
Author(s):  
Nisha A Gilotra ◽  
Abhishek Sawant ◽  
Aditya Bhonsale ◽  
Anneline S te Riele ◽  
Cynthia A James ◽  
...  
Keyword(s):  
Heart Failure ◽  
Heart Disease ◽  
Right Ventricular ◽  
Structural Changes ◽  
Task Force ◽  
Structural Heart Disease ◽  
Arrhythmogenic Right Ventricular Dysplasia ◽  
Small Subset ◽  
Study Cohort ◽  
Right Ventricular Dysplasia

Introduction: The reported incidence of heart failure (HF) in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) varies depending on study cohort ranging from <10 to 20%. Though risk of fatal arrhythmias is well described, the heterogenous manifestations of HF in this population are less well known. Hypothesis: With more prompt recognition of ARVD/C and subsequent prevention of SCD, HF is becoming more prevalent amongst ARVD/C patients. Methods: Patients from the Johns Hopkins ARVD/C Program Registry meeting the 2010 Revised Task Force Criteria with completed HF symptom survey (n=134) and/or available HF clinical assessment (n=154) were included. HF signs and symptoms were retrospectively adjudicated. Results: Of the 288 patients studied, 236 had evidence of structural heart disease defined as right ventricular (n=199) or biventricular dilatation/dysfunction (n=37). At least one clinical sign or symptom of HF was present in 123 (52%) of those with structural disease (42 had one and 61 had two or more signs/symptoms). The most commonly reported symptoms were dyspnea on exertion (n=87) and fatigue (n=77). Evidence of volume retention (edema or ascites) was found in 46/236 (20%), and left-sided HF symptoms were rare. Of the 105 patients with structural heart disease and known age at HF symptom onset, average time from first ARVD/C presentation to HF symptoms was 6.3 ± 8.0 years, and 40% had at least one episode of sustained ventricular tachycardia or ICD shock prior to HF symptoms. Presence of a genetic mutation for ARVD/C did not correlate with HF symptoms or structural changes. Sixteen patients underwent orthotopic heart transplant. Conclusions: HF symptoms are common in the ARVD/C population with structural heart disease. Though there is a small subset of patients with evident volume overload requiring therapy, there is a larger portion of patients with HF symptoms that may be under recognized.

scholarly journals Risk Stratification in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy–Associated Desmosomal Mutation Carriers

2013 ◽  
Vol 6 (3) ◽  
pp. 569-578 ◽  
Author(s):  
Aditya Bhonsale ◽  
Cynthia A. James ◽  
Crystal Tichnell ◽  
Brittney Murray ◽  
Srinivasa Madhavan ◽  
...  
Keyword(s):  
Risk Stratification ◽  
Right Ventricular ◽  
Arrhythmogenic Right Ventricular Dysplasia ◽  
Right Ventricular Dysplasia ◽  
Mutation Carriers

P993Diagnostic accuracy of cardiac magnetic resonance and endomyocardial biopsy for arrhythmogenic right ventricular dysplasia/cardiomyopathy and myocarditis

2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
D G Della Rocca ◽  
M Casella ◽  
A Dello Russo ◽  
A Gasperetti ◽  
G Fassini ◽  
...  
Keyword(s):  
Cardiac Magnetic Resonance ◽  
Magnetic Resonance ◽  
Right Ventricular ◽  
Endomyocardial Biopsy ◽  
Diagnostic Performance ◽  
Task Force ◽  
Arrhythmogenic Right Ventricular Dysplasia ◽  
Final Diagnosis ◽  
Right Ventricular Dysplasia ◽  
Diagnostic Work

Abstract Introduction Patients with myocarditis may fulfill the cardiac magnetic resonance (CMR) criteria set forth by the 2010 Task Force for arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C), thereby increasing the risk of misdiagnosis. Purpose We sought to evaluate the role of CMR and endomyocardial biopsy (EMB) in the differential diagnosis between myocarditis and ARVD/C. Methods Consecutive patients presenting with ventricular arrhythmias, underwent a complete diagnostic work-out, which included CMR and EMB. The final diagnosis served as the gold standard to assess the diagnostic accuracy of CMR and EMB. Results Overall, 74 consecutive patients presenting with VAs underwent a complete diagnostic workout at our institution. The cohort was 70.3% male, with a mean age of 38.9±12.1 years. A final diagnosis of ARVD/C was made in 30 (40.5%) patients, whereas 19 (25.7%) had a diagnosis of myocarditis. The McNemar's test showed significant differences in the diagnostic performance of EMB and cardiac MRI (p=0.003 for ARVD/C, p=0.04 for myocarditis). At receiver operating characteristic (ROC) analyses, the area under the curve (AUC) to discriminate between controls and ARVD/C patients was 0.711 (95% CI: 0.59–0.83) for MRI and 0.944 (95% CI: 0.88–1.00) for biopsy (p<0.001). The AUC to discriminate between controls and patients with myocarditis was 0.656 (95% CI: 0.51–0.80) for MRI and 0.893 (95% CI: 0.80–0.99) for biopsy (p=0.006). Diagnostic performance of CMR and EMB Conclusion Even though CMR has good diagnostic performances as single technique, a complete diagnostic work-out including EMB may frequently reduce the risk of misdiagnoses.

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