A comparative study of mutation screening of sarcomeric genes (MYBPC3, MYH7, TNNT2) using single gene approach versus targeted gene panel next generation sequencing in a cohort of HCM patients in Egypt

Background: NGS enables simultaneous sequencing of large numbers of associated genes in genetic heterogeneous disorders, in a more rapid and cost-effective manner than traditional technologies. However there have been limited direct comparisons between NGS and more established technologies to assess the sensitivity and false negative rates of this new approach. The scope of the present manuscript is to compare variants detected in MYBPC3, MYH7 and TNNT2 genes using the stepwise dHPLC/ Sanger versus targeted NGS.Methods: In this study, we have analysed a group of 150 samples of patients from the Bibliotheca Alexandrina-Aswan Heart Centre National HCM program. The genetic testing was simultaneously undertaken by high throughput denaturing high-performance liquid chromatography (dHPLC) followed by Sanger based sequencing and targeted next generation deep sequencing using panel of inherited cardiac genes (ICC). The panel included over 100 genes including the 3 sarcomeric genes. Analysis of the sequencing data of the 3 genes was undertaken in a double blinded strategy.Results: NGS analysis detected all pathogenic and likely pathogenic variants identified by dHPLC (50 in total, some samples had double hits). There was a 0% false negative rate for NGS based analysis. Nineteen variants were missed by dHPLC and detected by NGS, thus increasing the diagnostic yield in this co- analysed cohort from 22.0% (33/150) to 31.3% (47/150). Of interest to note that the mutation spectrum in this Egyptian HCM population revealed a high rate of homozygosity in MYBPC3 and MYH7 genes in comparison to other population studies (6/150, 4%). None of the homozygous samples were detected by dHPLC analysis.Conclusion: NGS provides a useful and rapid tool to allow panoramic screening of several genes simultaneously with a high sensitivity rate amongst genes of known etiologic role allowing high throughput analysis of HCM patients and relevant control series in a less characterised population

The Perception of a Three-Dimensional-Printed Heart Model from the Perspective of Different Stakeholders: A Complex Case of Truncus Arteriosus

The case of an 11-year-old male patient with truncus arteriosus is presented. The patient has a right aortic arch, a repaired truncus arteriosus, pulmonary artery stenosis, as well as conduit stenosis, with a complex surgical plan being discussed. In order to gather additional insight into the patient’s anatomy prior to the surgery and to facilitate communication with the patient’s parents, a three-dimensional (3D) model of his heart and main vessels was created from computed tomography data. Feedback was collected from different stakeholders. The patient and his parents were both struck by the size of the heart, with the parents further elaborating on how the 3D model was more intuitive a tool than medical images as well as “an helpful talking point to the other members of the family” and potentially also at school. The surgeon and cardiologist commented on gaining better understanding of the 3D relationship between a markedly narrowed right pulmonary artery and the aorta, with the surgeon ultimately coming to a decision of dividing the ascending aorta quite high to access the right pulmonary artery for patch reconstruction and thus planning to arrest the circulation beforehand. The imaging expert remarked on the potential to “improve communication in multidisciplinary meetings,” while a medical trainee, who also had a chance to evaluate the model, remarked that “having the model in front of me and being able to see the exact abnormality makes this particular case much more memorable. […] 3D printed models could have immense potential in pathology and anatomy teaching for the training of healthcare professionals.

Women's perspective on the COVID-19 pandemic: Walking into a post-peak phase

The pandemic of Novel Coronavirus Disease 2019 (COVID-19), caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has provoked hundreds of thousands of deaths, resulting in catastrophe for humans.Although some insights have been garnered in studies on women, children and young adults infected with COVID-19, these often remain fragmented in literature.Therefore, we discussed the impact of COVID-19 pandemic on women, children and young patients, particularly those with underlying cardiovascular comorbidities or congenital heart disease. Furthermore, we gathered and distilled the existing body of literature that describes their cardiovascular complications and the recommended actions in favour of those patients toward the post-peak pandemic period.Although many questions still require answers, this article is sought to help the practicing clinician in the understanding and management of the threatening disease in special populations