Diagnostic Criteria and Disease Staging for Desmoplakin Cardiomyopathy.
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Smith Eric, Gasperetti Alessio, Carrick Richard T, Protonotarios Alexandros, Syrris Petros, Bauce Barbara, Pilichou Kalliopi, Murray Brittney, Tichnell Crystal, Basso Cristina, Olsen Paul Anders Sletten, Cappelletto Chiara, Parikh Victoria N, Chen Liang, Peters Stacey, Mancinelli Antonella, Iorio Anna Maria, Scotto Roberta, Cadrin-Tourigny Julia, Gilotra Nisha A, Iseppi Manuela, Peretto Giovanni, Schiavone Marco, Abela Mark, Vargas Daniela, Crescenzi Cinzia, Calò Leonardo, Ware James, Crotti Lia, Ciabatti Michele, Casella Michela, Apostu Alexandra, Jurcut Ruxandra, Raineri Claudia, Angelini Filippo, Fernández-Sellers Carlos, Zorio Esther, Yap Sing-Chien, Cox Moniek G, Salavati Arman, Te Riele Anneline, Wilde Arthur, Amin Ahmad S, van Tintelen Peter, Saguner Ardan M, Duru Firat, Abrams Dominic, Cerrone Marina, Graziosi Maddalena, Biagini Elena, Gimeno Juan Ramon, Gandjbakhch Estelle, Lakdawala Neal, Pieroni Maurizio, Merlo Marco, Sinagra Gianfranco, Haugaa Kristina, Arbelo Elena, Elliott Perry M, Taylor Matthew, Mestroni Luisa, Calkins Hugh, James Cynthia A, Helms Adam S
Аннотация
OBJECTIVE: Utilizing a large cohort of DSP cardiomyopathy patients and their genotype-positive family members, this study aims to develop diagnostic and disease staging criteria for DSP cardiomyopathy.
METHODS: Patients from the DSP-ERADOS Network with complete rhythm monitoring, electrocardiogram and cardiac magnetic resonance imaging were enrolled. Diagnostic criteria were assessed in initially-presenting patients (probands) and their genotype-positive family members. Early disease criteria (with preserved left ventricular ejection fraction, LVEF) were integrated into standard LVEF-based classifications. Diagnostic and staging criteria were assessed by time-event analyses (major ventricular arrhythmia and heart failure events).
RESULTS: A total of 605 patients with complete diagnostic testing were included (mean age 40 yr, 60% female, 40% probands). The most prevalent disease features in probands were premature ventricular contractions (PVCs) >500/24hr (66%), nonsustained ventricular tachycardia (NSVT, 29%), LV late gadolinium enhancement (LGE, 53%), and reduced LVEF (44%). The presence of any one of these features was 97% sensitive for diagnosis (along with a DSP pathogenic variant) and were therefore considered as diagnostic criteria. Using these criteria, 77% of genotype-positive family members were considered clinically affected. Isolated right ventricular (RV) involvement occurred in only 0.7%. The absence of diagnostic criteria identified a low-risk group (composite event rate 0.8%/year, p<0.001). Integration of these criteria into LVEF-based classification improved identification of composite arrhythmia/heart failure events (early: diagnostic criteria with LVEF ≥50%, HR 2.7, p=0.04; intermediate: LVEF 41-49%, HR 3.7, p=0.009; advanced: LVEF ≤40% HR 10.3, p<0.001). LGE was mostly subepicardial (87%). Circumferential (ring-like) LGE was more frequent in intermediate or advanced vs early disease (66% vs 48%, p<0.001).
CONCLUSION: This study identifies genotype-specific diagnostic and disease staging criteria for DSP cardiomyopathy that improve identification of risk for both heart failure and sustained ventricular arrhythmias. This work highlights how gene-specific criteria may be used to refine diagnosis and staging for cardiomyopathy subtypes - a critical step as gene-targeted treatments move toward clinical trials.