The Harm of Delayed Diagnosis of Arrhythmogenic Cardiac Sarcoidosis

A Case Series

Jarieke C. Hoogendoorn; Maarten K. Ninaber; Sebastiaan R.D. Piers; Marta de Riva; Robert W. Grauss; Frank M. Bogun; Katja Zeppenfeld

Disclosures

Europace. 2020;22(9):1376-138. 

In This Article

Abstract and Introduction

Abstract

Aims: Cardiac sarcoidosis (CS) is a known cause of ventricular tachycardia (VT). However, an arrhythmogenic presentation may not prompt immediate comprehensive evaluation. We aimed to assess the diagnostic and disease course of patients with arrhythmogenic cardiac sarcoidosis (ACS).

Methods and Results: From the Leiden VT-ablation-registry, consecutive patients with CS as underlying aetiology were retrospectively included. Data on clinical presentation, time-to-diagnosis, cardiac function, and clinical outcomes were collected. Patients were divided in early (<6 months from first cardiac presentation) and late diagnosis. After exclusion of patients with known causes of non-ischaemic cardiomyopathy (NICM), 15 (12%) out of 129 patients with idiopathic NICM were ultimately diagnosed with CS and included. Five patients were diagnosed early; all had early presentation with VTs. Ten patients had a late diagnosis with a median delay of 24 (IQR 15–44) months, despite presentation with VT (n = 5) and atrioventricular block (n = 4). In 6 of 10 patients, reason for suspicion of ACS was the electroanatomical scar pattern. In patients with early diagnosis, immunosuppressive therapy was immediately initiated with stable cardiac function during follow-up. Adversely, in 7 of 10 patients with late diagnosis, cardiac function deteriorated before diagnosis, and in only one cardiac function recovered with immunosuppressive therapy. Six (40%) patients died (five of six with late diagnosis).

Conclusion: Arrhythmogenic cardiac sarcoidosis is an important differential diagnosis in NICM patients referred for VT ablation. Importantly, the diagnosis is frequently delayed, which leads to a severe disease course, including irreversible cardiac dysfunction and death. Early recognition, which can be facilitated by electroanatomical mapping, is crucial.

Graphical Abstract

Introduction

Cardiac sarcoidosis (CS) is a granulomatous disease of unknown aetiology, histologically characterized by non-necrotizing granulomas.[1] It may be diagnosed in the context of cardiac screening of patients who present with extracardiac sarcoidosis.[2] However, the majority of patients who are diagnosed with CS, presents with cardiac symptoms.[3] The major sequelae of CS are atrioventricular (AV) conduction disturbances, ventricular tachycardia (VT), and heart failure.[3,4]

Diagnosing CS remains challenging. Cornerstones of the diagnosis are either myocardial tissue showing typical non-necrotizing granulomas, or positive myocardial 18F-FDG-uptake at positron emission tomography (PET).[5,6] Unfortunately, endomyocardial biopsy has a low diagnostic yield due to the patchy involvement of the heart.[5] Histologically proven extracardiac sarcoidosis in conjunction with cardiac signs and symptoms also allows for diagnosis of CS. However, extracardiac symptoms are often absent in patients with CS[1,2] and cardiac symptoms and signs may mimic other cardiac diseases.[7,8] Although CS is a known cause of VT, an arrhythmogenic presentation may not prompt immediate and tailored evaluation.[5] This altogether may lead to an important delay in the diagnosis of CS. Early diagnosis of arrhythmogenic cardiac sarcoidosis (ACS) and immediate initiation of immunosuppressive treatment might prevent deterioration of cardiac function and VT recurrence.[9] Both ventricular arrhythmias and severe LV dysfunction are associated with high morbidity and mortality.[4,10,11]

The purpose of this study was to assess the (first) clinical presentation, time-to-diagnosis, and disease course in patients with ACS.

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