Effects of AV-delay optimization on hemodynamic parameters in patients with VDD pacemakers.

AIM: Atrioventricular (AV) delay optimization improves hemodynamics and clinical parameters in patients treated with cardiac resynchronization therapy and dual-chamber-pacemakers (PM). However, data on optimizing AV delay in patients treated with VDD-PMs are scarce. We, therefore, investigated the acute and chronic effects of AV delay optimization on hemodynamics in patients treated with VDD-PMs due to AV-conduction disturbances. METHODS: In this prospective, single-center interventional trial, we included 64 patients (38 men, 26 women, median age: 77 (70-82) years) with implanted VDD-PM. AV-delay optimization was performed using a formula based on the surface electrocardiogram (ECG). Hemodynamic parameters (stroke volume (SV), cardiac output (CO), heart rate (HR), and blood pressure (BP)) were measured at baseline and follow-up after 3 months using impedance cardiography. RESULTS: Using an ECG formula for AV-delay optimization, the AV interval was decreased from 180 (180-180) to 75 (75-100) ms. At baseline, AV-delay optimization led to a significant increase of both SV (71.3 ± 15.8 vs. 55.3 ± 12.7 ml, p < 0.001, for optimized AV delay vs. nominal AV interval, respectively) and CO (5.1 ± 1.4 vs. 3.9 ± 1.0 l/min, p < 0.001), while HR and BP remained unchanged. At follow-up, the improvement in CO remained stable (4.9 ± 1.3 l/min, p = 0.09), while SV slightly, but significantly, decreased (to 65.1 ± 17.6, p < 0.01). CONCLUSION: AV-delay optimization in patients treated with VDD-PMs exhibits immediate beneficial effects on hemodynamic parameters that are sustained for 3 months.

High incidence of GJB2 mutations during screening of newborns for hearing loss in Austria.

OBJECTIVES: The aim of the present study was to evaluate gap junction protein beta2 (GJB2) genetic testing within a national neonate screening program for hearing loss (HL) in a European population. DESIGN: Neonatal cases of nonsyndromic HL (N = 21) were identified by postpartal otoacoustic emissions (OAE) and brain stem electric response audiometry (BERA) analysis. GJB2 testing was performed by direct sequencing. RESULTS: Mutations in GJB2 were found in 15 of 21 children (71.4%) identified by neonatal audiological screening. The 35delG mutation in GJB2 was found homozygous in 10 cases (47.6%) and also as a clear cause of HL as the heterozygous alterations 35delG/del311-324 and 35delG/L90P. In a single case, L90P/R143Q was also identified as a cause of HL. In 3 HL cases that were not identifiable during initial OAE testing, homozygous 35delG and 35delG/R184P defined the genetic basis for HL in 2 cases, whereas one case had wild-type GJB2. CONCLUSIONS: Our findings of the high mutation rate in the Austrian population, especially in neonates identified during the newborn screening program, confirm the importance of screening for mutations in GJB2.