Cardiac MR Findings and Potential Diagnostic Pitfalls in Patients Evaluated for Arrhythmogenic Right Ventricular Cardiomyopathy

Rastegar, Neda; Burt, Jeremy R.; Corona‐Villalobos, Celia P.; Riele, Anneline S te; James, Cynthia A.; Murray, Brittney; Calkins, Hugh; Tandri, Harikrishna; Bluemke, David A.; Zimmerman, Stefan L.; Kamel, Ihab R.

doi:10.1148/rg.346140194

Cited by 62 publications

(57 citation statements)

References 52 publications

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“…Global or regional structural and functional alterations are mainly assessed by imaging examinations with various indexes, especially in the revised 2010 TFC2729. Despite its low prevalence, the evaluation of ARVC accounts for a disproportionately high percentage of referrals for imaging examinations29.…”

Section: Resultsmentioning

confidence: 99%

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Genotype-phenotype relationship in patients with arrhythmogenic right ventricular cardiomyopathy caused by desmosomal gene mutations: A systematic review and meta-analysis

Zhu

Wang

et al. 2017

Sci Rep

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The relationship between clinical phenotypes and desmosomal gene mutations in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) is poorly characterized. Therefore, we performed a meta-analysis to explore the genotype-phenotype relationship in patients with ARVC. Any studies reporting this genotype-phenotype relationship were included. In total, 11 studies involving 1,113 patients were included. The presence of desmosomal gene mutations was associated with a younger onset age of ARVC (32.7 ± 15.2 versus 43.2 ± 13.3 years; P = 0.001), a higher incidence of T wave inversion in V1–3 leads (78.5% versus 51.6%; P = 0.0002) or a family history of ARVC (39.5% versus 27.1%; P = 0.03). There was no difference in the proportion of males between desmosomal-positive and desmosomal-negative patients (68.3% versus 68.9%; P = 0.60). The presence of desmosomal gene mutations was not associated with global or regional structural and functional alterations (63.5% versus 60.5%; P = 0.37), epsilon wave (29.4% versus 26.2%; P = 0.51) or ventricular tachycardia of left bundle-branch morphology (62.6% versus 57.2%; P = 0.30). Overall, patients with desmosomal gene mutations are characterized by an earlier onset age, a higher incidence of T wave inversion in V1–3 leads and a strong family history of ARVC.

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Section: Resultsmentioning

confidence: 99%

“…Despite its low prevalence, the evaluation of ARVC accounts for a disproportionately high percentage of referrals for imaging examinations29. The structural and functional alterations presented in four included studies15181921 were evaluated by both echocardiography and cardiac magnetic resonance (CMR).…”

Section: Resultsmentioning

confidence: 99%

Genotype-phenotype relationship in patients with arrhythmogenic right ventricular cardiomyopathy caused by desmosomal gene mutations: A systematic review and meta-analysis

Zhu

Wang

et al. 2017

Sci Rep

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“…The first is to be certain of the correct diagnosis. Misdiagnosis of ARVC is common due to misinterpretation of MR imaging and possible lack of awareness of the 2010 Task Force Criteria 17, 18 . The diagnosis of ARVC is based on a scoring system with major and minor criteria utilizing a combination of defects in RV morphology and function, characteristic depolarization/ repolarization ECG abnormalities, correct identification of tissue pathology, VA, family history, and the results of genetic testing.…”

Section: Management Of Arvcmentioning

confidence: 99%

Risk Stratification in Arrhythmogenic Right Ventricular Cardiomyopathy

2017

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Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) is an inherited cardiomyopathy that is characterized by ventricular arrhythmias, and an increased risk of sudden death (SCD). Although structural abnormalities of the right ventricle predominate, it is well recognized that left ventricular involvement is common particularly in advanced disease, and that left dominant forms occur. The pathologic characteristic of ARVC/D is myocyte loss with fibrofatty replacement. Since the first detailed clinical description of the disorder in 1982, significant advances have been made in understanding this disease. Once the diagnosis of ARVC is established, the single most important clinical decision is whether a particular patient’s SCD risk is sufficient to justify placement of an implantable cardioverter defibrillator (ICD). The importance of this decision reflects the fact that ARVC is a common cause of sudden death in young people, and that sudden cardiac death may be the first manifestation of the disease. This decision is particularly important since these are often young patients who are expected to live for many years. While an ICD can save lives in individuals with this disease, it is also well recognized that ICD therapy is associated with both short and long term complications. Decisions regarding placement of an ICD are based on an estimate of a patient’s risk of SCD, as well as their preferences and values. The primary purpose of this article is to provide a review of literature that concerns risk stratification in patients with ARVC and to place this literature into the framework of the three authors considerable lifetime experiences in caring for patients with ARVC. The most important parameters to consider when determining arrhythmic risk include: 1) electrical instability including frequency of PVC’s and sustained VA, 2) proband status, 3) extent of structural disease, 4) cardiac syncope, 5) male gender, 6) the presence of multiple mutations or a mutation in TMEM 43, and 7) the patient’s willingness to restrict exercise and eliminate participation in competitive or endurance exercise.

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“…The clinical features and associated structural findings of conditions included in the differential diagnosis of ARVD/C are described in Table 2. A more comprehensive description of ARVD/C mimics is available from Rastegar et al (16). …”

Section: Imaging Of Arvd/cmentioning

confidence: 99%

Noninvasive Multimodality Imaging in ARVD/C

Riele

Tandri

Sanborn

et al. 2015

JACC: Cardiovascular Imaging

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Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a familial cardiomyopathy resulting in progressive right ventricular (RV) dysfunction and malignant ventricular arrhythmias. Although ARVD/C is generally considered an inherited cardiomyopathy, the arrhythmogenic nature of the disease is striking. Affected individuals typically present in the second to fourth decade of life with arrhythmias originating from the right ventricle. Over the past decade, pathogenic ARVD/C-causing mutations have been identified in 5 genes encoding the cardiac desmosome. Disruption of the desmosomal connection system between cardiomyocytes may be represented structurally by ventricular enlargement, global or regional contraction abnormalities, RV aneurysms, or fibrofatty replacement. These abnormalities are typically observed in predilection areas, including the subtricuspid region, basal RV free wall, and left ventricular posterolateral wall. As such, structural and functional abnormalities on cardiac imaging constitute an important diagnostic criterion for the disease. This paper discusses the current status and role of echocardiography, cardiac magnetic resonance imaging, and computed tomography for suspected ARVD/C.

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Cardiac MR Findings and Potential Diagnostic Pitfalls in Patients Evaluated for Arrhythmogenic Right Ventricular Cardiomyopathy

Cited by 62 publications

References 52 publications

Genotype-phenotype relationship in patients with arrhythmogenic right ventricular cardiomyopathy caused by desmosomal gene mutations: A systematic review and meta-analysis

Genotype-phenotype relationship in patients with arrhythmogenic right ventricular cardiomyopathy caused by desmosomal gene mutations: A systematic review and meta-analysis

Risk Stratification in Arrhythmogenic Right Ventricular Cardiomyopathy

Noninvasive Multimodality Imaging in ARVD/C

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