The cardiac sarcoidosis consortium: elucidating a mysterious disease through collaborative research

Abstract

Cardiac sarcoidosis (CS) is an inflammatory disease of unknown aetiology that can lead to life-threatening arrhythmias, heart failure, and death. The hallmark pathophysiology involves the development of noncaseating granulomas in cardiac tissue disrupting normal electrical signalling and ultimately impairing cardiac pump function. Advanced cardiac imaging has improved the clinician’s ability to detect the disease, and there has been a significant rise in the number of patients diagnosed with this disorder in the last 20 years. Critical knowledge gaps remain in the domains of aetiology, genetic basis, and immunological mechanisms. There is also uncertainty as to the most appropriate diagnostic criteria, risk stratification, and treatments. The CS literature is mostly comprised of case reports and small retrospective studies; high-quality data from randomized controlled trials are lacking. After collaborating on a multicentre analysis of safety and efficacy of implantable cardioverter defibrillator (ICD) in CS,1 the founding members [Dr Thomas Crawford and Dr Frank Bogun (University of Michigan), Dr William Sauer (then at the University of Colorado), and Dr Kenneth Ellenbogen and Dr Jordana Kron (Virginia Commonwealth University)] established an international, prospective registry, the Cardiac Sarcoidosis Consortium (CSC). The consortium identified five primary aims (Figure 1). The CSC has advocated for inclusion of CS sessions at major national and international meetings and proposed and championed the development of the first CS-specific guidelines, which resulted in the 2014 Heart Rhythm Society Expert Consensus Statement on the Diagnosis and Management of Arrhythmias Associated with Cardiac Sarcoidosis.2 Since the inception of the CSC, we have witnessed an increase in academic interest in CS at national meetings and in research publications.