Anneline S J M te Riele1, Cynthia A James2, Neda Rastegar3, Aditya Bhonsale2, Brittney Murray2, Crystal Tichnell2, Daniel P Judge2, David A Bluemke4, Stefan L Zimmerman3, Ihab R Kamel3, Hugh Calkins2, Harikrishna Tandri5. 1. Department of Medicine, Division of Cardiology, University Medical Center Utrecht, Utrecht, the Netherlands; Department of Medicine, Division of Cardiology, Johns Hopkins University School of Medicine, Baltimore, Maryland. 2. Department of Medicine, Division of Cardiology, Johns Hopkins University School of Medicine, Baltimore, Maryland. 3. Department of Radiology, Johns Hopkins University School of Medicine, Baltimore, Maryland. 4. Department of Radiology, Johns Hopkins University School of Medicine, Baltimore, Maryland; Radiology and Imaging Sciences, National Institutes of Health Clinical Center, Bethesda, Maryland. 5. Department of Medicine, Division of Cardiology, Johns Hopkins University School of Medicine, Baltimore, Maryland. Electronic address: htandri1@jhmi.edu.
Abstract
BACKGROUND: Incomplete penetrance and variable expressivity of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) complicate family screening. OBJECTIVES: The objective of the present study was 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, age 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 by electrocardiography (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 (not the "Hamid criteria") at last follow-up that was absent at enrollment. RESULTS: At first evaluation, 43 subjects (37%) fulfilled an ARVD/C diagnosis according to the 2010 Task Force Criteria. Among the remaining 74 subjects (63%), 11 of 37 (30%) with complete re-evaluation experienced disease progression during 4.1 ± 2.3 years of follow-up. Electrical progression (n = 10 [27%], including by ECG [14%], Holter monitoring [11%], or signal-averaged ECG [14%]) was more frequently observed than structural progression (n = 1 [3%] on CMR). All 5 patients (14%) with clinical ARVD/C diagnosis at last follow-up had an abnormal ECG or Holter monitor recording, and the only patient with an abnormal CMR already had an abnormal ECG at enrollment. CONCLUSIONS: 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.
BACKGROUND: Incomplete penetrance and variable expressivity of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) complicate family screening. OBJECTIVES: The objective of the present study was 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, age 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 by electrocardiography (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 (not the "Hamid criteria") at last follow-up that was absent at enrollment. RESULTS: At first evaluation, 43 subjects (37%) fulfilled an ARVD/C diagnosis according to the 2010 Task Force Criteria. Among the remaining 74 subjects (63%), 11 of 37 (30%) with complete re-evaluation experienced disease progression during 4.1 ± 2.3 years of follow-up. Electrical progression (n = 10 [27%], including by ECG [14%], Holter monitoring [11%], or signal-averaged ECG [14%]) was more frequently observed than structural progression (n = 1 [3%] on CMR). All 5 patients (14%) with clinical ARVD/C diagnosis at last follow-up had an abnormal ECG or Holter monitor recording, and the only patient with an abnormal CMR already had an abnormal ECG at enrollment. CONCLUSIONS: 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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