Abstract 21110: The Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC): Evaluation of New Criteria in a Young Gene-tested Population
Introduction: ARVC diagnosis remains challenging, particularly within the young. We sought to evaluate if newly proposed clinical criteria improved diagnosis in young individuals referred for possible ARVC, and to evaluate sensitivity and specificity compared to ARVC mutation status.
Methods: We reviewed patients investigated for ARVC at a children's cardiac genetics clinic from 1998 through 2009. Details of presentation, electrocardiography and imaging were collected and evaluated using 1994 ARVC Task Force criteria compared to new 2010 criteria. Complete sequencing of PKP2, DSP, DSG2, DSC2 and TMEM43 genes was performed and classified according to www.arvcdatabase.info.
Results: A total of 316 patients (51.5% male) were evaluated, of which 35.5% were index cases with a median age of 13.2 yrs. Reasons for referral were a family history of ARVC (52.3%), dysrhythmias (19.2%), syncope or dizziness (15.4%), abnormal ECG (7.0%), chest pain (5.5%) and sudden cardiac arrest or VF (2.6%). 1994 criteria were met in 22.2%. According to 2010 criteria, 14.4% had ARVC, 20.4% were borderline and 27.4% had possible ARVC. Gene testing was performed in 177 patients, of which 29.9% were positive for pathogenic mutation, 60.2% were negative or had no known pathogenicity and 9.6% had a variant of uncertain significance. Within the gene-negative patients, 14.12% were negative in a gene-positive family. To assess the sensitivity and specificity of ARVC clinical criteria, we analyzed patients who carry pathogenic mutations, and patients who are gene-negative in a gene-positive family. Of gene-positive patients, 5/39 (12.8%) met 1994 criteria whereas 9/39 (18.8%) met 2010 criteria. Only 1/21 (4.8%) of gene-negative patients within a gene-positive family met either 1994 or 2010 ARVC criteria.
Conclusions: 2010 ARVC criteria have improved sensitivity compared to 1994 criteria, and both have low sensitivity and high specificity in young patients. Gene testing identifies a subgroup of young patients who carry a pathogenic mutation but have not yet significantly manifested disease.
- © 2010 by American Heart Association, Inc.