Incremental Value of Cardiac Magnetic Resonance Imaging in Arrhythmic Risk Stratification of Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy–Associated Desmosomal Mutation Carriers

Abstract

Objectives To identify the incremental value and optimal role of Cardiac Magnetic Resonance (CMR) imaging in arrhythmic risk stratification of Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) associated desmosomal mutation carriers without a prior history of sustained ventricular arrhythmia. Background Risk stratification of ARVD/C mutation carriers is challenging. Methods We included 69 patients (age 27.0 ± 15.3 years, 42% male) harboring ARVD/C associated pathogenic mutations (83% PKP-2) without prior sustained ventricular arrhythmias. Electrocardiography (ECG) and 24-hours Holter monitoring closest to presentation were analyzed for electrical abnormalities as per revised Task Force Criteria. CMR studies were done to identify abnormal cardiac structure and function according to the revised Task Force Criteria. Results Overall, 42 (61%) patients presented with electrical abnormalities based on their ECG and Holter monitor, of whom 20 (48%) had an abnormal CMR. Only 1 (4%) of 27 patients without electrical abnormalities at initial evaluation had an abnormal CMR. Over a mean follow-up of 5.8 ± 4.4 years, 11 (16%) patients experienced a sustained ventricular arrhythmia, exclusively in patients with both electrical abnormalities (ECG and/or Holter) and abnormal CMR. Conclusion Our results suggest that electrical abnormalities on ECG and Holter monitoring precede detectable structural abnormalities in ARVD/C mutation carriers. Therefore, evaluation of cardiac structure and function using CMR is probably not necessary in the absence of baseline electrical abnormalities. Among ARVD/C mutation carriers, the presence of both electrical and CMR abnormalities identifies patients at high risk of events and thus patients who might benefit from prophylactic implantable cardioverter-defibrillator implantation.

Diagnostic Value of Isoproterenol Testing in Arrhythmogenic Right Ventricular Cardiomyopathy

“…Isoproterenol-induced ventricular arrhythmias at the early stages of the disease enhance the hypothesis that electric abnormalities seem to precede anatomic abnormalities. 26 Furthermore, patients who did not fulfill diagnostic criteria at the end of 5.6-year follow-up may develop patent ARVC with a longer follow-up period. Whether these results suggest the incremental role of isoproterenol testing to the current TFC warrant further investigation.…”

Fibrofatty Changes: Incidence at Cardiac MR Imaging in Patients with Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

“…Of the available cardiac MR imaging studies, 29 were excluded because they were missing essential sequences for the evaluation of both fat and LGE. Because of the rarity of ARVD/C, some of the members of this patient cohort have been included in previous studies (7)(8)(9)(10). Four studies have involved members of this cohort.…”

“…A prior report on the prevalence of biventricular disease in ARVD/C reported data in 49 of the 76 subjects (8). A study of the additive value of cardiac MR imaging for defining prognosis in ARVD/C mutation carriers included 39 of the 76 subjects (9). Finally, a…”

Almanac 2014: Cardiomyopathies.

“…The incremental value and role of CMR in risk stratification were investigated in 69 patients with ARVC-associated mutations (83% with PKP-2 mutations) without prior sustained VT. 77 Electrical abnormalities were found in 61% of patients of whom 48% also had an abnormal CMR (defined as presence of at least a minor task force criterion). Only a single patient (4%) without electrical abnormalities had an abnormal heart on imaging at baseline.…”

“…Povećavajuća vrijednost i uloga CMR-a u stratifikaciji rizika proučena je u 69 pacijenata s mutacijama povezanima s ARVC-om (82% sa PKO-2 mutacijama) bez prethodno stalnog VT. 77 Električke abnormalnosti otkrivene su kod 61% pacijenata od kojih je 49% također imalo abnormalan nalaz CMR-a (definiran kao prisutnost barem manjeg broja kriterija radne skupine). Samo je jedan pacijent (4%) bez električkih abnormalnosti imao abnormalno srce na početnom oslikavanju.…”