A Novel Nonsense Pathogenic TTN Variant Identified in a Patient with Severe Dilated Cardiomyopathy

Both genetic and environmental factors contribute to the development of dilated cardiomyopathy. Among the genes involved, TTN mutations, including truncated variants, explain 25% of DCM cases. We performed genetic counseling and analysis on a 57-year-old woman diagnosed with severe DCM and presenting relevant acquired risk factors for DCM (hypertension, diabetes, smoking habit, and/or previous alcohol and cocaine abuse) and with a family history of both DCM and sudden cardiac death. The left ventricular systolic function, as assessed by standard echocardiography, was 20%. The genetic analysis performed using TruSight Cardio panel, including 174 genes related to cardiac genetic diseases, revealed a novel nonsense TTN variant (TTN:c.103591A > T, p.Lys34531*), falling within the M-band region of the titin protein. This region is known for its important role in maintaining the structure of the sarcomere and in promoting sarcomerogenesis. The identified variant was classified as likely pathogenic based on ACMG criteria. The current results support the need of genetic analysis in the presence of a family history, even when relevant acquired risk factors for DCM may have contributed to the severity of the disease

The free license codes as decision support system (DSS) for the emergency planning to simulate radioactive releases in case of accidents in the new generation energy plants

The radiological risk is related to a wide range of activities, beginning with the medical and military ones and including those connected to the industrial and research activities such as nuclear fusion. A valid tool to predict the consequences of the accidents and reduce the risk is represented by computing systems that allow modeling the evolution of a possible release of radioactive materials over time and space. In addition to proprietary codes there are free license codes, like Hot-Spot, that allow providing a set of tools to simulate diffusion in case of accidents involving radioactive materials and analyze the safety and security of the facilities in which the radioactive material is manipulated. The case studies scenario’s consists in two simulations accidents scenario the first to biomass plant and the second at nuclear fission plant. The simulation of the radioactive contamination have been conducted with the code HOT SPOT, a free license code. The results of the simulation and data discussion will be presented in this work by the authors

The role of genetic testing in suspected fulminant myocarditis: A case report

ACM is a rare hereditary heart disease characterized by a progressive fibro-fatty replacement of the myocardium that can affect either the right or the left ventricle or both. It is mainly caused by variants in the desmosome genes with autosomal dominant transmission and incomplete penetrance. The disease shows a wide spectrum of clinical manifestations, including ventricular arrhythmias, HF and myocarditis. The latter is considered a ‘hot phase’ in the natural history of the disease and must therefore be distinguished from the isolated AM, which is frequently due to viral infections. Our case report is an example of how an AM, as the first manifestation of the disease, helped to reach a diagnosis of ACM through the genetic analysis. In fact, the multi-parametric investigation, which also included CMR and EMB, revealed controversial aspects that led us to perform the genetic test. The latter revealed a heterozygous pathogenic variant in the PKP2 that was considered definitive proof of ACM