Bela Merkely
Hungary
Research Article
Next-generation Sequencing in the Clinical Decision Making in Hypertrophic Cardiomyopathy
Author(s): Viktor J Horvath, Kristof Arvai, Janos P Kosa, Bernadett Balla, Balint Tobias, Gyongyi Kirschner, Zsuzsanna Putz, Zsolt Nagy, Istvan Takacs, Laszlo Kornyei, Hajnalka Vago, Attila Toth, Istvan Liko, Gyorgy Fekete, Bela Merkely and Peter LakatosViktor J Horvath, Kristof Arvai, Janos P Kosa, Bernadett Balla, Balint Tobias, Gyongyi Kirschner, Zsuzsanna Putz, Zsolt Nagy, Istvan Takacs, Laszlo Kornyei, Hajnalka Vago, Attila Toth, Istvan Liko, Gyorgy Fekete, Bela Merkely and Peter Lakatos
Next generation sequencing (NGS) is becoming a valuable tool in clinical decisions. Here, we discuss the case of a family (2 parents with 3 children) with hypertrophic cardiomyopathy where we applied a NGS method developed by us to determine the genetic background of the disease. When the youngest sister underwent sudden cardiac arrest and successful reanimation, her genome was tested with this approach and two disease-causing heterozygous mutations in the MYBPC3 gene (p.R495Q and p.S593fs*11) were identified. After this, all of the family members were screened targeting these two mutations. The mother carried the frameshift mutation (p.S593fs*11) while the father’s genome contained the point mutation (p.R495Q). All the children were compound heterozygous. Information collected from our genetic testing panel helped to make the decision of implanting ICD that is associated potent.. View More»
