Cardiac sarcoidosis: phenotypes, diagnosis, treatment, and prognosis. (16th March 2023)

• Record Type: Journal Article
• Authors: Lehtonen, Jukka; Uusitalo, Valtteri; Pöyhönen, Pauli; Mäyränpää, Mikko I; Kupari, Markku
• Is Part Of: European heart journal. Volume 44:Number 17(2023)
• Page Start: 1495
• Page End: 1510
• Publication Date: 2023-03-16
• Subjects: Cardiac sarcoidosis -- Inflammatory heart disease -- Heart failure -- Pacemaker -- Implantable cardioverter-defibrillator; Cardiology -- Periodicals; Heart -- Diseases -- Periodicals; 616.12005
• DOI: 10.1093/eurheartj/ehad067
• Languages: English
• ISSNs: 0195-668X

Abstract

Graphical Abstract: Graphical abstract In cardiac sarcoidosis (CS), inflammatory granulomas invade the heart leading to injury and fibrosis (yellow stars in the section of a sarcoidotic heart in the middle of the graph). CS is often subclinical, but, when clinically manifest, presents commonly with slow or fast arrhythmias or heart failure. On the left of the figure, positron emission tomography (PET) exposes focal septal uptake of 18-F fluorodeoxyglucose suggesting active inflammation (white arrow), and contrast-enhanced cardiac magnetic resonance (CMR) shows septal late gadolinium enhancement (arrows) indicating replacement fibrosis. Both constitute major diagnostic criteria for CS and entitle probable CS diagnosis if accompanied by confirmed extracardiac histology of sarcoidosis. Yet, the only way to definite diagnosis, demonstrated on the right, is myocardial biopsy showing non-necrotic granulomas (black arrow). The therapy of CS is based on immunosuppression and management of heart block, ventricular arrhythmias, and heart failure. The risk of sudden cardiac death (SCD) needs assessment and consideration of an implantable cardioverter-defibrillator (ICD). With current therapy, expected 5-year survival is well above 90% as shown by the Kaplan–Meier graph of a 398-patient Finnish CS cohort. Abstract: Cardiac sarcoidosis (CS) results from epithelioid cell granulomas infiltrating the myocardium and predisposing to conduction disturbances, ventricular tachyarrhythmias, and heart failure. Manifest CS, however, constitutes only the top of an iceberg as advanced imaging uncovers cardiac involvement 4 to 5 times more commonly than what is clinically detectable. Definite diagnosis of CS requires myocardial biopsy and histopathology, but a sufficient diagnostic likelihood can be achieved by combining extracardiac histology of sarcoidosis with clinical manifestations and findings on cardiac imaging. CS can appear as the first or only organ manifestation of sarcoidosis or on top of pre-existing extracardiac disease. Due to the lack of controlled trials, the care of CS is based on observational evidence of low quality. Currently, the treatment involves corticosteroid-based, tiered immunosuppression to control myocardial inflammation with medical and device-based therapy for symptomatic atrioventricular block, ventricular tachyarrhythmias, and heart failure. Recent outcome data indicate 90% to 96% 5-year survival in manifest CS with the 10-year figures ranging from 80% to 90%. Major progress in the care of CS awaits the key to its molecular–genetic pathogenesis and large-scale controlled clinical trials.