Gene Mutations Linked to Ebstein's Anamoly

An article in Science Daily states that researchers at the Academic Medical Center Amsterdam in the Netherlands have found mutations of a gene in patients with a heart defect called Ebstein’s anomaly. Ebstein’s anomaly is a defect in which the right heart valve cannot close properly. Patients with Ebstien’s anamoly also may suffer from a disease called left ventricle noncompaction (LVNC), which has been found to be linked to an increased risk of cardiac death or improper heart function. In a study of LVNC, Professor Ludwig Thierfelder and Dr. Sabine Klaassen discovered mutations in three different genes for muscle structural proteins. Mutations in one gene, MYH7, were found to cause patients with LVNC to have muscle tissue in the heart to protrude into the left ventricle, affecting the ability of the heart to contract properly.  Dr. Alex Postma wanted to see if there was a correlation between Ebstien’s anamoly, LVNC, and the mutations in MYH7. Six out of eight patients studied were found to have mutations in the gene as well as suffer from LVNC and Ebsien’s anamoly.

Based on their findings, the researchers say that one mutation can lead to other heart diseases. This is seen in the patients with Ebstein’s anomaly and LVNC. Dr. Klaassen suggests that family members of patients with these diseases receive cardiac examinations and genetic testing. The risk is increased in those who possess the mutation gene even if they don’t have a heart defect. The researchers hope that with this knowledge, patients can be treated earlier and more effectively.