31 August 2021
A NEW ARTICLE ABOUT THE CARDIAC DISORDERS IN AHC HAS BEEN PUBLISHED
Another study about the heart disturbances associated to AHC, led by Dr. Andrew Landstrom and Dr. Mary Moya-Mendez at the Duke University, has been recently published on the Scientific Journal of the American Heart Association (JAHA).
As Dr. Landstrom explains, "the goal of this study was to determine whether patients with AHC may have a heart abnormality that explains why some patients with AHC die suddenly and unexpectedly. This study finds that patients with AHC, specifically those that have the D801N mutation in ATP1A3, often have an electrical abnormality of their hearts that causes the heart to reset faster than normal. In rare cases, this “short QT interval” may predispose patients with this D801N mutation to life-threatening arrhythmias, particularly during times of abnormally slow heart rates or when undergoing sedation".
Dr. Landstrom and Dr. Mendez are now leading the multicentre study inside the IAHCRC Consortium (QTc-AHC Study), to further determine the relationship between ATP1A3 genotype and shortened QTc and a predisposition to ventricular arrhythmias. This study also aims to develop recommendations for identifying and assessing patients with AHC who are "high risk" from a cardiac perspective.
The article on JAHA is published in open access and the full text is available at this link