scholarly journals Clinical Presentation, Cardiac Magnetic Resonance Findings, and Prognosis of Patients with Arrhythmogenic Right Ventricular Cardiomyopathy – An Experience from Pakistan

2020 ◽  
Vol 10 ◽  
pp. 48
Author(s):  
Intisar Ahmed ◽  
Fateh Ali Tipoo
Keyword(s):  
Cardiac Magnetic Resonance ◽  
Family History ◽  
Magnetic Resonance ◽  
Right Ventricular ◽  
Clinical Presentation ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Left Ventricular ◽  
Ventricular Cardiomyopathy ◽  
History Of

Objectives: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart-muscle disease, characterized by fibro-fatty replacement and ventricular arrhythmias, that primarily affects the right ventricle (RV). We aimed to look at the clinical presentation, cardiac magnetic resonance (CMR) imaging findings and prognosis of patients with ARVC in Pakistan. Material and Methods: It is a retrospective observational study, 17 consecutive patients with CMR and other findings consistent with ARVC, were enrolled from 2010 to 2019 at a single center. Results: Out of 17 patients, 12 (70.6%) were male with a mean age of 33.5 ± 17.5 years. Family history of sudden cardiac death was present in 3 (17.7%) patients while one (5.9%) patient had family history of ARVC. Syncope was the first presenting symptom in eight (47.1%) patients. On 12 leads ECG, T wave inversion in precordial leads was found in 6 (35.4%) patients, and epsilon wave was present in only 3 (17.7%) patients. On echocardiogram, 13 (76.5%) patients had dilated RV with reduced systolic function. On CMR, majority of patients (n = 14, 82.4%) were found to have RV dilatation with regional dyskinesia and fatty infiltration, 9 (52.9%) of them had left ventricular involvement also. Follow-up was available for 14 patients (82.4%) with a mean follow-up period of 35.5 ± 19.7 months. Three (21.4%) of them died and 10 (71.4%) got admissions for heart failure during follow-up period. Conclusion: Arrhythmia related events are the main presenting symptoms of ARVC in this region, and left ventricular involvement in ARVC is not rare in this population. The mortality is relatively high, probably due to advanced disease at the time of presentation and less medical facilities available.

P1077Late gadolinium enhancement with cardiac magnetic resonance imaging demonstrates left ventricular involvement is under-recognized in arrhythmogenic right ventricular cardiomyopathy

EP Europace ◽  
2020 ◽  
Vol 22 (Supplement_1) ◽  
Author(s):  
S Mohamed ◽  
M Kunz ◽  
S Casey ◽  
W Katsiyiannis ◽  
R Abdelhadi ◽  
...  
Keyword(s):  
Cardiac Magnetic Resonance ◽  
Late Gadolinium Enhancement ◽  
Magnetic Resonance ◽  
Right Ventricular ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Left Ventricular ◽  
Fatty Tissue ◽  
Post Mortem ◽  
Ventricular Cardiomyopathy ◽  
Gadolinium Enhancement

Abstract Funding Acknowledgements The study is partially funded by Medtronic and the Minneapolis Heart Institute Foundation. Background/Introduction: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is characterized by replacement of the myocardium with fibrous and fatty tissue that may lead to an increased risk of ventricular arrhythmias and heart failure.  Although left ventricular (LV) and biventricular forms have been identified post-mortem resulting in the increased use of the term arrhythmogenic cardiomyopathy, there is only inclusion of right ventricular wall motion abnormalities in the taskforce diagnostic criteria. Purpose The aim of our study was to examine the utility of cardiac magnetic resonance (CMR) imaging in characterizing LV or biventricular involvement with late gadolinium enhancement (LGE) in a large cohort of patients with suspected ARVC. Methods Retrospective, single-institution, chart review of 76 patients diagnosed with ARVC between January 2009 and July 2019. Data collection and analysis included baseline demographics and parameters specific to diagnosis (definite, borderline, or possible) and risk stratification of ARVC based on 2019 modified taskforce criteria, as well as detailed CMR evaluation. Results Of the 76 patients with ARVC, 66 (87%) had at least one CMR with gadolinium administered. In that subset of patients, 27 (41%) had LGE. Of those with LGE, LV involvement was identified in 23 (85%) patients. The pattern of LGE was not localized to one myocardial region but demonstrated variable LV enhancement patterns including anterior, inferior, lateral, septal, basal, mid, apical, and from the sub-epicardium into the mid-myocardium. Conclusions   Left ventricular involvement reflected by LGE was identified in a high percentage of patients with suspected ARVC, and there was significant variation in the pattern of distribution in terms of region and depth of myocardial involvement.  While post-mortem examination of patients with ARVC demonstrates a high prevalence of left ventricular involvement, this study shows that CMR can consistently detect late gadolinium enhancement, and ARVC should be considered in the differential diagnosis for biventricular cardiomyopathy.  The identification of variable locations of LGE within the LV suggests there is more than one phenotype, and this imaging modality may help to clarify the implications of left ventricular involvement in disease progression.

scholarly journals Long term CMR follow up of patients with right ventricular abnormality and clinically suspected arrhythmogenic right ventricular cardiomyopathy (ARVC)

2019 ◽  
Vol 21 (1) ◽  
Author(s):  
Giuseppe Femia ◽  
Christopher Semsarian ◽  
Mark McGuire ◽  
Raymond W. Sy ◽  
Rajesh Puranik
Keyword(s):  
Family History ◽  
Ejection Fraction ◽  
Right Ventricular ◽  
Task Force ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Premature Death ◽  
Ventricular Cardiomyopathy ◽  
Degree Relative ◽  
History Of

Abstract Background The Task Force Criteria (TFC) for arrhythmogenic right ventricular cardiomyopathy (ARVC) was updated in 2010 to improve specificity. There was concern however that the revised cardiovascular magnetic resonance (CMR) criteria was too restrictive and not sensitive enough to detect early forms of the condition. We previously described patients with clinically suspected ARVC who satisfied criteria from non-imaging TFC categories and fulfilled parameters from the original but not the revised CMR criteria; as a result, these patients were not confirmed as definite ARVC but may represent an early phenotype. Methods Patients scanned between 2008 and 2015 who had either right ventricular (RV) dilatation or regional dyskinesia satisfying at least minor imaging parameters from the original criteria and without contra-indication underwent serial CMR scanning using a 1.5 T scanner. The aims were to assess the risk of progressive RV abnormalities, evaluate the accuracy of the revised CMR criteria and the need for guideline directed CMR surveillance in at-risk individuals. Results Overall, 48 patients were re-scanned; 24 had a first-degree relative diagnosed with ARVC using the revised TFC or a first-degree relative with premature sudden death from suspected ARVC and 24 patients had either left bundle branch morphology ventricular tachycardia or > 500 ventricular extra-systoles in 24-h. Mean follow up was 69+/− 25 months. The indexed RV end-diastolic, end-systolic volumes and ejection fraction were calculated for both scans. There was significant reduction in RV volumes and improvement in RV ejection fraction (EF) irrespective of changes to body surface area; − 11.7+/− 15.2 mls/m2, − 6.4+/− 10.5 mls/m2 and + 3.3 +/− 7.9% (p = 0.01, 0.01 and 0.04). Applying the RV parameters to the revised CMR criteria, two patients from the family history group (one with confirmed ARVC and one with a premature death) had progressive RV abnormalities satisfying major criteria. The remaining patients (n = 46) did not satisfy the criteria and either had normal RV parameters with regression of structural abnormalities (27,56.3%) or stable abnormalities (19,43.7%). Conclusion The revised CMR criteria represents a robust tool in the evaluation of patients with clinical suspicion of ARVC, especially for those with ventricular arrhythmias without a family history for ARVC. For patients with RV abnormalities that do not fulfill the revised criteria but have a family history of ARVC or an ARVC associated gene mutation, a surveillance CMR scan should be considered as part of the clinical follow up protocol.

Abstract 16584: Abnormal Right Ventricular Strain by Cardiac Magnetic Resonance in Preclinical Arrhythmogenic Right Ventricular Cardiomyopathy

Circulation ◽  
2014 ◽  
Vol 130 (suppl_2) ◽  
Author(s):  
Davis Vigneault ◽  
Anneline S te Riele ◽  
Cynthia A James ◽  
Stefan L Zimmerman ◽  
Hugh Calkins ◽  
...  
Keyword(s):  
Cardiac Magnetic Resonance ◽  
Magnetic Resonance ◽  
Right Ventricular ◽  
Feature Tracking ◽  
Longitudinal Strain ◽  
Wall Motion ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Statistical Significance ◽  
Ventricular Cardiomyopathy ◽  
Wall Motion Abnormalities

Introduction: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy characterized by regional wall motion abnormalities of the right ventricle (RV) that have not previously been quantified, resulting in challenges / errors in diagnosis of the disease. RV strain is poorly assessed with tagged cardiac magnetic resonance (CMR) due to the thin RV wall. We applied novel feature tracking analysis to assess RV strain in patients with ARVC. Methods: 106 subjects (30 controls, 37 preclinical ARVC [mutation+], and 39 overt ARVC [mutation+, Task Force+] patients) underwent 4 chamber and axial cine imaging using SSFP sequences. The RV was divided into subtricuspid (ST), anterior wall (AW), and apical (Ap) regions. Each region was analyzed to determine peak longitudinal strain and strain-rate using Multimodality Tissue Tracking (MTT) software (MTT Version 6.0.4725, Toshiba Medical Systems Corporation, Tokyo, Japan). Results: Average age was 33.6 ± 16.1 years (48.2% women); there were no differences between groups. In the 4 chamber view, mean global and segmental strain and strain rates decreased in magnitude from control (-37.7% ± 11.2) to preclinical (-32.2% ± 11.5) to overt ARVC (mean -22.2% ± 11.9). Differences between groups most pronounced in the subtricuspid segment, and reached statistical significance between overt ARVC and both control and preclinical ARVC (p < 0.01). A similar trend was observed in longitudinal strain measured in the axial view, but these trends were inconsistent; statistical significance was met globally, but most individual segments did not reach statistical significance. Conclusions: Longitudinal RV strain as measured by CMR feature tracking in ARVC appears able to quantify wall motion abnormalities in overt ARVC, as well as define subtle abnormalities in patients with preclinical ARVC.

Abstract 3003: Programmed Ventricular Stimulation Does Not Predict the Outcome of Patients with Arrhythmogenic Right Ventricular Cardiomyopathy (from DARVIN study)

Circulation ◽  
2007 ◽  
Vol 116 (suppl_16) ◽  
Author(s):  
Domenico Corrado ◽  
Loira Leoni ◽  
Mark S Link ◽  
Hugh Calkins ◽  
Thomas Wichter ◽  
...  
Keyword(s):  
Sudden Death ◽  
Right Ventricular ◽  
Predictive Value ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Ventricular Cardiomyopathy ◽  
Icd Therapy ◽  
Programmed Ventricular Stimulation ◽  
Ventricular Stimulation ◽  
History Of

Background: The Defibrillator in Arrhythmogenic Right Ventricular Cardiomyopathy International (DARVIN) study was a multicenter investigation that enrolled patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) who received an implantable defibrillator (ICD) for either secondary or primary prevention of sudden death. Methods: In this DARVIN substudy, we examined whether programmed ventricular stimulation (PVS) is able to predict the arrhythmic risk in a large cohort of 201 ARVC patients (133 males, 68 females, aged 36 ± 12 years) who received an ICD. Implant indications were a history of cardiac arrest in 13 (6%) patients; sustained ventricular tachycardia (VT) in 82 (41%); syncope in 42 (21%); asymptomatic nonsustained VT in 40 (20%); and a family history of sudden death in 24 (12%). PVS prior to ICD implantation was carried out in 143 of 201 patients (71%). All antiarrhythmic drugs were discontinued ≥ 5 half-lives (≥ 6 weeks for amiodarone) before the study. PVS included a minimum of 2 drive cycles length and up to 3 ventricular extrastimuli while pacing from two right ventricular sites. Results: One hundred-nine patients (76%) were inducible to either sustained VT (patients 70; 64%), with a mean cycle length of 287 ± 66ms (range 220 to 410 ms), or ventricular fibrillation/flutter (VF) (patients 39; 36%). Of 109 patients who were inducible at PVS, 56 (52%) did not experience ICD therapy during a mean follow-up of 47 ± 22 months, whereas 11 of 34 (33%) noninducible patients had appropriate ICD interventions. Overall, the positive predictive value of PVS was 48%, the negative predictive value 67%, and the test accuracy 53%. The incidence of ICD discharges on VF, which in all likelihood would have been fatal in the absence of ICD therapy, did not differ between patients who were and were not inducible at PVS (26 of 109, 24% vs 7 of 34, 21%; p=0.87), regardless of clinical presentation. The type of ventricular arrhythmia inducible at PVS did not predict VF during the follow-up. Conclusions: The presence (or absence) of an inducible arrhythmia on PVS did not correlate with subsequent appropriate ICD interventions, suggesting a limited role for PVS in arrhythmic risk stratification of ARVC patient population. A negative PVS may not indicate better prognosis.

scholarly journals Clinical Findings and Diagnostic Yield of Arrhythmogenic Cardiomyopathy Through Genomic Screening of Pathogenic or Likely Pathogenic Desmosome Gene Variants

2021 ◽  
Vol 14 (2) ◽  
Author(s):  
Eric D. Carruth ◽  
Dominik Beer ◽  
Amro Alsaid ◽  
Marci L.B. Schwartz ◽  
Megan McMinn ◽  
...  
Keyword(s):  
Family History ◽  
Right Ventricular ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Diagnostic Testing ◽  
Great Promise ◽  
Arrhythmogenic Cardiomyopathy ◽  
Ventricular Cardiomyopathy ◽  
Patient Reported ◽  
Genomic Screening

Background: Genomic screening holds great promise for presymptomatic identification of hidden disease, and prevention of dramatic events, including sudden cardiac death associated with arrhythmogenic cardiomyopathy (ACM). Herein, we present findings from clinical follow-up of carriers of ACM-associated pathogenic/likely pathogenic desmosome variants ascertained through genomic screening. Methods: Of 64 548 eligible participants in Geisinger MyCode Genomic Screening and Counseling program (2015–present), 92 individuals (0.14%) identified with pathogenic/likely pathogenic desmosome variants by clinical laboratory testing were referred for evaluation. We reviewed preresult medical history, patient-reported family history, and diagnostic testing results to assess both arrhythmogenic right ventricular cardiomyopathy and left-dominant ACM. Results: One carrier had a prior diagnosis of dilated cardiomyopathy with arrhythmia; no other related diagnoses or diagnostic family history criteria were reported. Fifty-nine carriers (64%) had diagnostic testing in follow-up. Excluding the variant, 21/59 carriers satisfied at least one arrhythmogenic right ventricular cardiomyopathy task force criterion, 11 (52%) of whom harbored DSP variants, but only 5 exhibited multiple criteria. Six (10%) carriers demonstrated evidence of left-dominant ACM, including high rates of atypical late gadolinium enhancement by magnetic resonance imaging and nonsustained ventricular tachycardia. Two individuals received new cardiomyopathy diagnoses and received defibrillators for primary prevention. Conclusions: Genomic screening for pathogenic/likely pathogenic variants in desmosome genes can uncover both left- and right-dominant ACM. Findings of overt cardiomyopathy were limited but were most common in DSP -variant carriers and notably absent in PKP2 -variant carriers. Consideration of the pathogenic/likely pathogenic variant as a major criterion for diagnosis is inappropriate in the setting of genomic screening.

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