The purpose of this overview is to increase clinician awareness of the genetic basis of hypertrophic cardiomyopathy (HCM) and the benefits of early diagnosis and management to individuals with genetic HCM. The following are the goals of this overview.
Goal 1: Define HCM.
Goal 2: Identify the categories of HCM.
Goal 3: Provide the evaluation strategy for a proband with HCM to establish (when possible) the specific genetic cause.
Goal 4: Provide a basic view of genetic risk assessment of at-risk asymptomatic relatives of a proband with HCM to inform cardiac surveillance and to allow early detection and treatment of HCM to improve long-term outcome.
Copyright © 1993-2023, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.