Major Cardiac Events in Patients and Relatives With Hereditary Hypertrophic Cardiomyopathy

BackgroundLittle evidence is available on the disease expression in relatives of index patients with hypertrophic cardiomyopathy (HCM). This information has important implications for family screening programs, genetic counseling, and management of affected families.ObjectivesThe purpose of this study was to investigate the disease expression and penetrance in relatives of index patients carrying pathogenic/likely pathogenic (P/LP) variants in recognized HCM genes.MethodsA total of 453 consecutive and unrelated HCM index patients underwent clinical and genetic investigations. A total of 903 relatives of genotype-positive index patients were invited for clinical investigations and genetic testing. Penetrance, disease expression, and incidence rates of major adverse cardiac events (MACEs) were investigated in individuals carrying P/LP variants.ResultsForty percent (183/453) of index patients carried a P/LP variant. Eighty-four percent (757/903) of all relatives of index patients with P/LP variants were available for the investigation, of whom 54% (407/757) carried a P/LP variant. The penetrance of HCM among relatives was 39% (160/407). Relatives with HCM and index patients were diagnosed at a similar age (43 ± 18 years vs 46 ± 15 years; P = 0.11). There were no differences in clinical characteristics or incidence rates of MACE during 8 years of follow-up.ConclusionsThe disease expression of HCM among index patients and affected relatives carrying P/LP variants in recognized disease genes was similar, with an equal risk of experiencing MACE. These findings provide evidence to support family screening and follow-up of genotype-positive HCM families to improve management and diminish the number of adverse disease complications among relatives

Effects of plasmon excitation on photocatalytic activity of Ag/TiO 2 and Au/TiO2 nanocomposites

Model nanocomposite photocatalysts consisting of undoped TiO2 films with optically active Ag or Au nanoparticles (NPs) were designed, fabricated, and examined to address the role of plasmon excitations in their performance. Different composition configurations were tested in which the NPs were either facing the reaction environment or not, and in direct contact or not with TiO2. We found, as measured for the reactions of methanol and ethylene oxidation in two different photoreactors, that composites always show enhanced activity (up to x 100 for some configurations) compared to bare TiO2. We deduced from in situ localized surface plasmon resonance spectroscopy measurements that the interfacial charge transfer from TiO2 to NPs plays a major role in the activity enhancement for composite configurations where particles are in direct contact with TiO2. Plasmonic near- and far-field effects were only observed when the plasmon resonance energy overlaps with the bandgap energy of undoped TiO2. (C) 2013 Elsevier Inc. All rights reserved