Misdiagnosis of ARVC leading to inappropriate ICD implant and subsequent ICD removal – lessons learned

Abstract

Introduction Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited progressive cardiomyopathy characterized by frequent life‐threatening arrhythmias. The diagnosis of ARVC is challenging and is on the basis of a set of major and minor criteria as described by the modified Task Force Criteria (TFC). We report our clinical experience in a series of patients who were misdiagnosed with ARVC and subsequently underwent removal of their implantable cardioverter defibrillator (ICD) after a re‐evaluation at our center. Methods and results We studied 12 patients who were misdiagnosed with ARVC and had ICD implantation before our assessment. All patients had a repeat evaluation and were scored according to TFC before ICD removal. Cardiac magnetic resonance imaging (CMR) studies performed at outside institutions during the initial evaluation were reported abnormal and classified as meeting major TFC in ninety percent of patients. The most common abnormality reported was fatty infiltration of the right ventricular (RV) free wall and/or presence of focal intra‐myocardial fat in six patients (50%). On re‐evaluation, none of these findings fulfilled the TFC for the diagnosis. Conclusion This study demonstrated that high dependence on misinterpretation of CMR along with a misunderstanding of the TFC evaluation are the main reasons for the misdiagnosis of ARVC. Despite the updated criteria for almost a decade, this study reminds that the diagnosis of ARVC is complex and hence careful TFC evaluation and consideration of multiple cardiac test results should be the focused approach for clinicians when confronted with suspected ARVC patients.

Establishment of a Dedicated Inherited Cardiomyopathy Clinic: From Challenges to Improved Patients’ Outcome

“… 20 , 21 The diagnosis was most frequently changed primarily in patients referred for possible ARVC, where >60% had their diagnosis changed mainly because of overdiagnosis of ARVC via CMR. 20 Overdiagnosis of inherited life‐threatening conditions may result in inappropriate exercise restriction and unnecessary medical procedures, such as ICD placement with its possible complications. Overdiagnosis of genetic diseases also creates unnecessary anxiety for the patient and family members.…”

A Novel Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Biomarker—Anti-DSG2—Is Absent in Athletes With Right Ventricular Enlargement

“…In one case series of ARVC misdiagnosis, a healthy athlete underwent an inappropriate implantation of an implantable cardioverter defibrillator, and subsequent removal. 17 In previous cohorts of ARVC patients, roughly 50% of cases can be directly attributed to a known underlying genetic mutation that interferes with the formation of desmosomes. These are dominantly inherited autosomal mutations; however, penetrance is incomplete, as low as 30% for mutations in PKP2 ( Plakophilin-2 ), the most common gene associated with ARVC.…”

The arrhythmogenic right ventricular cardiomyopathy in comparison to the athletic heart

“…An early recognition of arrhythmogenic cardiomyopathy may prevent cardiac events and reassure patients who would safely enjoy exercise practice. The diagnosis is difficult, especially in an athlete with mild RV damage or documented VA (differentiating potential malignant arrhythmias from benign RV outflow tract arrhythmias), 67,68 typically requiring an expert electrophysiological knowledge (Table 1). A complete evaluation is mandatory 16 to identify pathological features of a disease at potential risk of SCD during sport, 69 or to avoid false diagnosis of ARVC 70 .…”