039 Congenital Heart Disease Confounding the Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy

Abstract

BackgroundEarly intervention in the diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC) can prevent irreversible changes that may result in ventricular dysfunction and lead to sudden cardiac death. The 2010 revised ARVC/D diagnostic Task Force Criteria (TFC) has increased diagnostic sensitivity for ARVC while remaining highly specific. However, certain conditions continue to mimic ARVC and therefore warrant careful attention, especially when dealing with pediatric populations. We present six cases in which clinical presentation has confounded the diagnosis of congenital heart disease (CHD) versus ARVC.MethodsWe reviewed medical charts for clinical, electrocardiographic and imaging data. The results were anonymized, tabulated and evaluated using the revised diagnostic criteria for ARVC.ResultsTabled 1ConclusionARVC poses a diagnostic challenge, especially in pediatric populations where findings may overlap with CHD. Cases of CHD with left-to-right shunting may lead to structural and electrophysiologic findings consistent with ARVC. In some cases, the findings are quite compelling and may even meet the revised diagnostic criteria for ARVC. On the other hand, underlying ARVC may co-exist with and be masked by mild CHD. Despite a high index of suspicion for ARVC, careful echocardiography and MRI are essential to detect covert CHD in the pediatric evaluation of ARVC. BackgroundEarly intervention in the diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC) can prevent irreversible changes that may result in ventricular dysfunction and lead to sudden cardiac death. The 2010 revised ARVC/D diagnostic Task Force Criteria (TFC) has increased diagnostic sensitivity for ARVC while remaining highly specific. However, certain conditions continue to mimic ARVC and therefore warrant careful attention, especially when dealing with pediatric populations. We present six cases in which clinical presentation has confounded the diagnosis of congenital heart disease (CHD) versus ARVC. Early intervention in the diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC) can prevent irreversible changes that may result in ventricular dysfunction and lead to sudden cardiac death. The 2010 revised ARVC/D diagnostic Task Force Criteria (TFC) has increased diagnostic sensitivity for ARVC while remaining highly specific. However, certain conditions continue to mimic ARVC and therefore warrant careful attention, especially when dealing with pediatric populations. We present six cases in which clinical presentation has confounded the diagnosis of congenital heart disease (CHD) versus ARVC. MethodsWe reviewed medical charts for clinical, electrocardiographic and imaging data. The results were anonymized, tabulated and evaluated using the revised diagnostic criteria for ARVC. We reviewed medical charts for clinical, electrocardiographic and imaging data. The results were anonymized, tabulated and evaluated using the revised diagnostic criteria for ARVC. ResultsTabled 1 ConclusionARVC poses a diagnostic challenge, especially in pediatric populations where findings may overlap with CHD. Cases of CHD with left-to-right shunting may lead to structural and electrophysiologic findings consistent with ARVC. In some cases, the findings are quite compelling and may even meet the revised diagnostic criteria for ARVC. On the other hand, underlying ARVC may co-exist with and be masked by mild CHD. Despite a high index of suspicion for ARVC, careful echocardiography and MRI are essential to detect covert CHD in the pediatric evaluation of ARVC. ARVC poses a diagnostic challenge, especially in pediatric populations where findings may overlap with CHD. Cases of CHD with left-to-right shunting may lead to structural and electrophysiologic findings consistent with ARVC. In some cases, the findings are quite compelling and may even meet the revised diagnostic criteria for ARVC. On the other hand, underlying ARVC may co-exist with and be masked by mild CHD. Despite a high index of suspicion for ARVC, careful echocardiography and MRI are essential to detect covert CHD in the pediatric evaluation of ARVC.