Light after the storm…

A 15 year old boy survived sudden cardiac death after lay rescucitation. His heart was only minimally enlarged. Genetic testing found a mutation in the LMNA-gene causing cardiac arrest. Family screening detected the same mutation in his brother. He can now be protected by medical treatment.

Change of diagnosis

A 12 year old girl suffered from epilepsy refractory to therapy. Once after the alarm clock rang, she lost consciousness. The ambulance had to defibrillate her. The genetic test revealed a mutation in the KCNH2 gene, causing long QT syndrome triggering cardiac arrest. Specific cardiac medical treatment prevented further epileptic symptoms.

Runs in the family….

A 43 year old man was found to have a dilation of the thoracic aorta. His father and paternal uncle died suddenly. The genetic test found a mutation in the TGFBR2-gene securing the diagnosis of Loeys-Dietz Syndrome. He can now receive tailored follow-up and his family can benefit from predictive genetic testing.