Genetic testing for heart diseases could help identify risks

The use of genetic testing and counseling for inherited cardiovascular diseases could help patients and their families manage their heart health through well-informed decisions. That’s according to “Genetic Testing for Inherited Cardiovascular Diseases,” a new scientific statement from the American Heart Association, published July 23, 2020, in Circulation: Genomic and Precision Medicine. “Although genetic testing has seen explosive growth in the past few years, both in the clinical setting and with direct-to-consumer testing, genetic testing for heart disease should be reserved for specific patients,” said Kiran Musunuru, chair of the writing group for the scientific statement and professor of cardiovascular medicine and genetics at the Perelman School of Medicine at the University of Pennsylvania in Philadelphia. According to the statement, cardiovascular conditions that may have an inherited genetic component include cardiomyopathies, thoracic aortic aneurysms and dissections, arrhythmic disorders and familial hypercholesterolemia. Providers should work with patients to document their family medical history, with an eye toward going back three generations, to determine if there is a pattern of certain types of heart disease. Genetic testing typically should be reserved for patients with a confirmed or suspected diagnosis of an inherited cardiovascular disease or for those at high risk due to a previously identified disease-causing variant in their family. Because immediate family members might share genetic variants predisposing them to an inherited cardiovascular disease, they are at higher risk for the same conditions. Once a genetic variant is identified within a family, all first-degree relatives should consider undergoing genetic testing and counseling for that specific mutation whenever possible.

New option for monitoring heart health

Researchers from Purdue University have developed self-powered, wearable triboelectric nanogenerators (TENGs) with polyvinyl alcohol (PVA)-based contact layers for the monitoring cardiovascular health. TENGs help conserve mechanical energy and turn it into power. "The PVA-based TENGs show great potential for self-powered biomedical devices and open doors to new technologies that use widely deployed biocompatible materials for economically feasible and ecologically friendly production of functional devices in energy, electronics and sensor applications," said Wenzhuo Wu, the Ravi and Eleanor Talwar Rising Star Assistant Professor of industrial engineering in Purdue's College of Engineering, who led the development team. Wu explained that they can function as self-powered sensors to detect and monitor the mechanical activities from the human body in applications such as health monitoring, human-machine interface, teleoperated robotics, consumer electronics and virtual and augmented technologies. The team is looking for partners to commercialize their technology. Its work was published in the journal Advanced Materials June 28, 2020.

Scorpion venom eyed for heart attacks

The venom of creatures like snakes, spiders and scorpions has been studied for treating various ailments. For its part, scorpion venom contains a peptide that has beneficial effects on the cardiovascular system of rats with high blood pressure. One compound that hold promise is the tripeptide KPP (Lys-Pro-Pro), and researchers have treated mouse cardiac muscle cells in a petri dish with KPP and measured the levels of proteins expressed by the cells at different times using mass spectrometry. They found that the scorpion peptide triggered the phosphorylation of AKT, a mouse protein, which activated it and another protein involved in the production of nitric oxide, a vasodilator. KPP treatment caused dephosphorylation of a protein called phospholamban, leading to reduced contraction of cardiac muscle cells. Both AKT and phospholamban already have been identified as protecting cardiac tissue from injuries caused by lack of oxygen. These results suggest that KPP should be examined as a candidate for heart attacks and other cardiovascular problems. The findings appeared June 29, 2020, in the Journal of Proteome Research.

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