The Netherlands Arrhythmogenic Cardiomyopathy Registry: design and status update

Abstract

BackgroundClinical research on arrhythmogenic cardiomyopathy (ACM) is typically limited by small patient numbers, retrospective study designs, and inconsistent definitions.AimTo create a large national ACM patient cohort with a vast amount of uniformly collected high-quality data that is readily available for future research.MethodsThis is a multicentre, longitudinal, observational cohort study that includes (1) patients with a definite ACM diagnosis, (2) at-risk relatives of ACM patients, and (3) ACM-associated mutation carriers. At baseline and every follow-up visit, a medical history as well information regarding (non-)invasive tests is collected (e. g. electrocardiograms, Holter recordings, imaging and electrophysiological studies, pathology reports, etc.). Outcome data include (non-)sustained ventricular and atrial arrhythmias, heart failure, and (cardiac) death. Data are collected on a research electronic data capture (REDCap) platform in which every participating centre has its own restricted data access group, thus empowering local studies while facilitating data sharing.DiscussionThe Netherlands ACM Registry is a national observational cohort study of ACM patients and relatives. Prospective and retrospective data are obtained at multiple time points, enabling both cross-sectional and longitudinal research in a hypothesis-generating approach that extends beyond one specific research question. In so doing, this registry aims to (1) increase the scientific knowledge base on disease mechanisms, genetics, and novel diagnostic and treatment strategies of ACM; and (2) provide education for physicians and patients concerning ACM, e. g. through our website (www.acmregistry.nl) and patient conferences.Electronic supplementary materialThe online version of this article (10.1007/s12471-019-1270-1) contains supplementary material, which is available to authorized users.

Quantitative Approach to Fragmented QRS in Arrhythmogenic Cardiomyopathy: From Disease towards Asymptomatic Carriers of Pathogenic Variants

“…Patients diagnosed with definite ACM according to the 2010 TFC (at least two major TFC, one major and two minor TFC or four minor TFC) and both symptomatic and asymptomatic carriers of a pathogenic ACM-associated variant without definite ACM diagnosis (either one major TFC, one major and one minor TFC) were included between 1991 and 2019 in the multicenter Netherlands ACM Registry [2,13]. Patients with definite ACM were divided for subgroup analysis in groups with and without prior history of SVA episodes.…”

“…Patients were excluded from the study if Vaughan Williams class I, III or IV AAD were used during ECG acquisition [15], the use of beta-blockers (class II) was allowed. Clinical data were retrospectively collected according to the Netherlands ACM Registry protocol and included clinical history, molecular-genetic testing, ECG, 48 h Holter recording, echocardiography and CMR [13].…”

“…2020, 9, x FOR PEER REVIEW 3 of 12 allowed. Clinical data were retrospectively collected according to the Netherlands ACM Registry protocol and included clinical history, molecular-genetic testing, ECG, 48 hour Holter recording, echocardiography and CMR [13]. who presented with recurrent sustained ventricular tachycardia (VT).…”

Disease-Specific Electrocardiographic Lead Positioning for Early Detection of Arrhythmogenic Right Ventricular Cardiomyopathy

“…However, diagnosis of ARVC is complex due to a heterogenous clinical presentation of the disease. [1][2][3] The association between structural and electrical progression in ARVC patients has been demonstrated. 4 Significant structural right ventricular (RV) progression were associated with prior depolarization abnormalities.…”

What if there is no prospective, double blind, randomised trial?

“…The contribution of Bosman and colleagues describes how the Dutch Arrhythmogenic Cardiomyopathy (ACM) registry is organised, and which type of future research can be expected from that data set [4]. Arrhythmogenic right ventricular cardiomyopathy affects approximately 1:1,000–5,000 people, is characterised by remodelling of the intercalated disk and fibrofatty replacement of myocardium and is the most common form of arrhythmogenic cardiomyopathy (ACM).…”