Abstract 15736: The Effect Of Genotype on the Clinical Presentation and Outcomes in Newly Diagnosed Patients With ARVC
Objective: The aim of the study was to compare clinical presentation of newly diagnosed patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) by presence of genes mutations, and the effect of known genotype on the risk of ventricular tachyarrhythmias (VT/VF) or death.
Methods: There were 109 newly identified probands diagnosed with ARVC according to the 2010 Task Force criteria for ARVC and tested for the following genes: (numbers of specific mutations identified are provided in parentheses): Plakophilin 2 (n=29), Plakoglobin (n=8), Desmocollin (n=1), Desmocollin 2 (n=1), Desmoglein (n=3), Desmoglein 2 (n=2), Desmoplakin (n=8).
Results: There were 32 (29.4%) genotype positive patients for mutation in just one of the tested genes and 9 (8.3%) patients had 2 or 3 mutation concomitantly, in 6 of them the co-present mutation was Plakophilin 2. The remaining 68 (62%) patients were genotype negative for the above genes. Gene-positive patients for single and for multiple mutations patients and patients with unknown yet gene mutations did not differ significantly in clinical presentation including: age at clinical presentation, age at the first VT/VF, family history of ARVD, diagnostic criteria points, arrhythmic events (VT/VF) prior to enrolment and ICD implantation, ECG presentation, EP testing, ECHO or MRI parameters. Figure below shows the risk of VT/VF/ Death in three groups of patients: single mutations vs. multiple mutations vs. unknown gene group.
Conclusion: ARVC patients with unknown genes show similar clinical, ECG, and MRI presentation and similar outcome to patients with single or multiple mutations. Future studies are needed to uncover unknown genes underlying ARVC.
Author Disclosures: B. Szepietowska: None. J.A. Towbin: None. F. Marcus: None. L. Mestroni: None. B. Polonsky: None. W. Zareba: None.
- © 2015 by American Heart Association, Inc.