An intervention strategy to improve genetic testing for dilated cardiomyopathy in a heart failure clinic.

PURPOSE: Despite its clinical implications in screening and therapy, genetic testing in dilated cardiomyopathy (DCM) is underused. This study evaluated implementing a practice intervention in a heart failure clinic to automate and streamline the process of genetic testing. METHODS: Eligible patients with DCM were compared for frequency of pretest genetic education and testing during pre- and postintervention periods. The intervention comprised automated prescheduling of a cardiovascular genomics e-consult that served as a placeholder for downstream, pretest education, testing, and post-test review of genetic results. RESULTS: Patients with DCM were more likely to undergo pretest genetic education after intervention than before intervention (33.5% vs 14.8%, P < .0001). Similarly, patients with DCM were more likely to undergo genetic testing after intervention than before intervention (27.3% vs 13.0%, P = .0006). The number of patients who were diagnosed to have likely pathogenic or pathogenic genetic variants were 2 of 21 (9.5%) and 6 of 53 (11.1%) before and after intervention, respectively, and variants were present in the following genes: FLNC, TTN, DES, LMNA, PLN, and TNNT2. CONCLUSION: An intervention strategy in a heart failure clinic to increase the rates of pretest genetic education and testing in eligible patients with DCM was feasible and efficacious and may have important implications for the management of DCM.

Wide complex tachycardia discrimination tool improves physicians' diagnostic accuracy.

BACKGROUND: Timely and accurate discrimination of wide complex tachycardias (WCTs) into ventricular tachycardia (VT) or supraventricular WCT (SWCT) is critically important. Previously we developed and validated an automated VT Prediction Model that provides a VT probability estimate using the paired WCT and baseline 12-lead ECGs. Whether this model improves physicians' diagnostic accuracy has not been evaluated. OBJECTIVE: We sought to determine whether the VT Prediction Model improves physicians' WCT differentiation accuracy. METHODS: Over four consecutive days, nine physicians independently interpreted fifty WCT ECGs (25 VTs and 25 SWCTs confirmed by electrophysiological study) as either VT or SWCT. Day 1 used the WCT ECG only, Day 2 used the WCT and baseline ECG, Day 3 used the WCT ECG and the VT Prediction Model's estimation of VT probability, and Day 4 used the WCT ECG, baseline ECG, and the VT Prediction Model's estimation of VT probability. RESULTS: Inclusion of the VT Prediction Model data increased diagnostic accuracy versus the WCT ECG alone (Day 3: 84.2% vs. Day 1: 68.7%, p 0.009) and WCT and baseline ECGs together (Day 3: 84.2% vs. Day 2: 76.4%, p 0.003). There was no further improvement of accuracy with addition of the baseline ECG comparison to the VT Prediction Model (Day 3: 84.2% vs. Day 4: 84.0%, p 0.928). Overall sensitivity (Day 3: 78.2% vs. Day 1: 67.6%, p 0.005) and specificity (Day 3: 90.2% vs. Day 1: 69.8%, p 0.016) for VT were superior after the addition of the VT Prediction Model. CONCLUSION: The VT Prediction Model improves physician ECG diagnostic accuracy for discriminating WCTs.

Persistence of left atrial thrombus in patients with hypertrophic cardiomyopathy and atrial fibrillation.

BACKGROUND: We recently demonstrated that patients with atrial fibrillation (AF) and hypertrophic cardiomyopathy (HCM) have an increased risk of left atrial (LA) thrombus. In this study, we aimed to evaluate thrombus management, thrombus persistence, and thromboembolic events for HCM and non-HCM patients with AF and LA thrombus. METHODS: From a cohort of 2,155 AF patients undergoing transesophageal echocardiography (TEE) for any indication, this study included 122 patients with LA thrombus (64 HCM patients and 58 non-HCM controls). RESULTS: There was no difference in mean CHA2DS2-VASc scores between HCM and control patients (3.9 ± 2.2 vs 3.8 ± 2.0, p = 0.88). Ten (16%) and 4 (7%) patients in the HCM and control groups, respectively, were in sinus rhythm at the time of TEE identifying the LA thrombus (p = 0.13). In all patients, the anticoagulation strategy was modified after the LA thrombus diagnosis. A total of 36 (56%) HCM patients and 34 (59%) control patients had follow-up TEE at median 90 and 62 days, respectively, after index TEE. The HCM group had significantly higher 90-day rates of persistent LA thrombus compared to the control group (88% vs 29%; p < 0.001). In adjusted models, HCM was independently associated with LA thrombus persistence. Among patients with LA thrombus, the 5-year cumulative incidence of thromboembolic events was 11% and 2% in HCM and control groups, respectively (p = 0.22). CONCLUSIONS: Among patients with AF with LA thrombus identified by TEE, those with HCM appear to have a higher risk of LA thrombus persistence than non-HCM patients despite anticoagulation.