Malignant Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy with a normal 12-lead electrocardiogram: A rare but underrecognized clinical entity

Riele, Anneline S.J.M. te; James, Cynthia A.; Bhonsale, Aditya; Groeneweg, Judith A.; Camm, Christian Fielder; Murray, Brittney; Tichnell, Crystal; Heijden, Jeroen F. van der; Dooijes, Dennis; Judge, Daniel P.; Hauer, Richard N.W.; Tandri, Harikrishna; Calkins, Hugh

doi:10.1016/j.hrthm.2013.06.022

Cited by 47 publications

(21 citation statements)

References 23 publications

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“…Since baseline characteristics and endpoints were similar between subjects with and without repeat evaluation, a significant selection bias seems unlikely. The presence of multiple pathogenic mutations in ARVD/C probands has been previously described (20). Although only 1 pathogenic mutation has been identified in all mutation-positive families of this study, presence of modifier genes could be responsible for disease progression in some family members.…”

Section: Limitationsmentioning

confidence: 92%

Yield of Serial Evaluation in At-Risk Family Members of Patients With ARVD/C

Riele

James

Rastegar

et al. 2014

Journal of the American College of Cardiology

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Background Incomplete penetrance and variable expressivity of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) complicate family screening. Objectives To determine the optimal approach to longitudinal follow-up regarding (1) screening interval and (2) testing strategy in at-risk relatives of ARVD/C patients. Methods We included 117 relatives (45% male, 33.3±16.3 years) from 64 families who were at risk of developing ARVD/C by virtue of their familial predisposition (72% mutation carriers [92% Plakophilin-2]; 28% first-degree relatives of a mutation-negative proband). Subjects were evaluated using ECG, Holter monitoring, signal-averaged ECG, and cardiac magnetic resonance (CMR). Disease progression was defined as the development of a new criterion by the 2010 Task Force criteria (TFC; not “Hamid criteria”) at last follow-up, which was absent at enrollment. Results At first evaluation, 43 (37%) subjects fulfilled ARVD/C diagnosis according to the 2010 TFC. Among the remaining 74 (63%) individuals, 11/37 (30%) subjects with complete reevaluation experienced disease progression during 4.1±2.3 years of follow-up. Electrical progression (n=10 [27%] including ECG 14%, Holter monitoring 11%, signal-averaged ECG 14%) was more frequently observed than structural progression (n=1 [3%] on CMR). All 5/37 (14%) patients with clinical ARVD/C diagnosis at last follow-up had an abnormal ECG or Holter monitor, and the only patient with an abnormal CMR already had an abnormal ECG at enrollment. Conclusion Over a mean follow-up of 4 years, our study showed that (1) almost one-third of at-risk relatives have electrical progression; (2) structural progression is rare; and (3) electrical abnormalities precede detectable structural changes. This information could be valuable in determining family screening protocols.

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Section: Limitationsmentioning

confidence: 92%

Yield of Serial Evaluation in At-Risk Family Members of Patients With ARVD/C

Riele

James

Rastegar

et al. 2014

Journal of the American College of Cardiology

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“…Furthermore, ECG criteria in the lead aVR [2] were additionally positive in both ECGs. According to Te Riele et al [3] 14% of patients with arrhythmogenic cardiomyopathy have no specific ECG findings. …”

Section: Contents Lists Available At Sciencedirectmentioning

confidence: 99%

Localised right precordial QRS prolongation — A novel form of calculation

Peters¹

2015

International Journal of Cardiology

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“…There is no consensus on the frequency of serial re-assessment of subjects suspected for ARVD/C, but yearly assessment is reasonable. Documented electrical abnormalities, such as abnormal ECG and/or Holter, may precede structural changes during a 4-year follow-up in a cohort of ARVD/C relatives (te Riele et al, 2013). Complex ventricular arrhythmia may be observed even when the surface ECG is normal (te Riele et al, 2014).…”

Section: Episodes Of Vt With Right Ventricular Origin Pattern or Morementioning

confidence: 99%