Abstract 173: Presence of Delayed Epicardial Gadolinium Enhancement in Cardiac Resonance Imaging Can Improve Clinical Diagnosis of Left Dominant Phenotypes of Arrhythmogenic Cardiomyopathy
Clinical diagnosis of left dominant phenotypes in Arrhythmogenic
Cardiomyopathy (AC) with the current Task Force Criteria (TFC) is difficult
because of lack of specific criteria. Cardiac magnetic resonance (CMR) imaging with viability sequences can add relevant information in this setting.
HYPOTHESIS:We hypothesized that including the presence of left ventricle late epicardial gadolinium enhancement (LV-LGE) in current TFC can improve clinical diagnosis of these phenotypes.
To asses that : 1. We propose a new clinical gold standard (GS) by including this specific feature. 2. We evaluate the diagnostic performance of GS compared to the current TFC and genotype in a group of patients with high prevalence of left dominant phenotypes of AC.
METHODS: We conducted a prospective study including patients (p) being studied in our unit because of familiar sudden cardiac death with AC diagnosis by autopsy or TFC in the index case. Every patient underwent: ECG, 24-hour ECG monitoring, exercise tolerance test, echocardiography, CMR, and screening of 5 desmosomal gene.
New GS was: a) in patients without causal mutation diagnosis was made with the current TFC b) in mutation carriers LV-LGE was considered as additional minor criteria to current TFC.
RESULTS: 59 p, mean age 39 years, (sd=18), 49% males, were included. Of them, 5 were living index cases ( 3p resuscitated, 2p with syncope, ) and 54 were first degree relatives. Twelve p showed LV-LGE, 22 p (37%) had causal mutations, which were in 19 p (32%) desmoplakin mutations and in 3 p (5%) double desmosomal mutations. The GS was positive in 12 p (17%), of whom 6 p (60%) had only left ventricular involvement and 6 p biventricular involvement. While TFC diagnosed only 6 p, the proposed GS diagnosed 6 additional patients, 2 of which were index cases (1p with syncope, 1p with sustained ventricular tachycardia of left ventricle origin). When compared to genetic testing, TFC showed S:15% E: 96% PPV:83% NPV:48% versus the proposed GS S: 28% E: 88% VPP: 75% VPN: 50%.
CONCLUSION: We assesed the hypothesis that including LV-LGE in the diagnostic workup of patients with AC, in the adequate clinical context can improve clinical diagnosis of left dominant forms of AC increasing sensitivity without significantly decreasing specificity.
- © 2012 by American Heart Association, Inc.