Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Rech, CLS.
Overview of cardiogenetic cases at the Diagnostic and Research Institute of Human Genetics at the Medical University of Graz.
[ Diplomarbeit/Master Thesis (ULG) ] Graz Medical University; 2020. pp.58.
FullText
- Führende Autor*innen der Med Uni Graz
- Rech Cara Lavinia Shirin
- Betreuer*innen:
- Windpassinger Christian
- Altmetrics:
- Abstract:
- Background. The genetics of inherited diseases now extends into many areas of medicine. The number of tests for cardiogenic diseases is also increasing. For many diseases, there are already familial variants such as inherited hypertrophic cardiomyopathy (HCM) or Long QT syndrome (LQT). Whereas Sanger sequencing, and its limitations, used to be restricted to the search in particular genes, next-generation sequencing opens up new possibilities. With this technique it is possible, cheap and fast, to examine a large number of relevant genes and thus increases the probability of finding a mutation. Material & Methods. From 2015 to 2018, the study collective comprised of 288 patients. The data on gender, age, working diagnosis, type of mutation, classification and affected genes were taken from an Excel sheet and retrospectively processed in Excel again. Results. The gender distribution was 62% in men. This was also reflected in some subgroups (e.g. HCM). Other distribution patterns already described were also found in our cohort; for example, the eightfold increased frequency for men in Brugada Syndrome or the higher prevalence of women in LQT. In our cohort, for about half the cases the underlying pathogenic mutation could not be detected. This can be explained, among other things, by the fact that many of the 592 identified variants are currently unclassified (UV) and therefore currently cannot be categorized as genetic cause for the phenotype respectively. Conclusion. The ambiguity of the UVs means an increased effort of clarification of the patient's symptoms and further clarification of the mutation itself. Particularly in the case of UVs, the limited benefit of genetic testing for various diseases becomes apparent. The consequences of the announcement of an UV can be more stressful for patients than a clear diagnosis. Nevertheless, genetic testing also offers advantages, especially at present in research into polygenetic forms of cardiovascular disease.