Article
The Novel ACTC1 p.Gly50Ser Variant Is Associated With Arrhythmia and Secondary Features of HCM Without Hypertrophy.
American journal of medical genetics. Part A - 1 Jul 2026
Gossios Thomas D, Ntelios Dimitrios, Zegkos Thomas, Parcharidou Despoina, Rouskas Pavlos, Katranas Sotirios, Papoulidis Ioannis, Ninios Vlasis, Ziakas Antonios, Efthimiadis Georgios K
Abstract excerpt
The key diagnostic criterion for hypertrophic cardiomyopathy is the presence of otherwise unexplained hypertrophy. Current definitions of HCM rely on specific thresholds to establish a diagnosis, while guideline directed risk stratification algorithms take its magnitude into consideration. Presently, secondary features such as myocardial crypts and valve abnormalities in the absence of hypertrophy are solely...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.