Family Communication About Genetic Risk of Hereditary Cardiomyopathies and Arrhythmias: an Integrative Review

Abstract

Screening for hereditary cardiomyopathies and arrhythmias (HCA) may enable early detection, treatment, targeted surveillance, and result in effective prevention of debilitating complications and sudden cardiac death. Screening at-risk family members for HCA is conducted through cascade screening. Only half of at-risk family members are screened for HCA. To participate in screening, at-risk family members must be aware of their risk. This often relies on communication from diagnosed individuals to their relatives. However, family communication is not well understood and is ripe for developing interventions to improve screening rates. Until very recently, family communication of genetic risk has been mostly studied in non-cardiac disease. Using this non-cardiac literature, we developed the family communication of genetic risk (FCGR) conceptual framework. The FCGR has four main elements of the communication process: influential factors, communication strategies, communication occurrence, and reaction to communication. Using the FCGR, we conducted an integrated review of the available literature on genetic risk communication in HCA families. Descriptive analysis of 12 articles resulted in the development of categories describing details of the FCGR elements in the context of HCA. This review synthesizes what is known about influential factors, communication strategies, communication occurrence, and outcomes of communication in the context of HCA.

Keywords: Cascade screening; Disclosure; Family communication; Genetic risk; Hypertrophic cardiomyopathy; Inherited arrhythmia; Inherited cardiomyopathies; Long QT syndrome; Sudden cardiac death.

Figure 1

Family Communication of Genetic Risk Conceptual Framework (FCGR) Based on Non-Cardiac Conditions

Figure 2

Adapted PRISMA Flow Diagram Illustrating the Steps of the Literature Search Process

Figure 3

Modification of the Family Communication of Genetic Risk Conceptual Framework (FCGR) Based on Integrative Review of Family Communication About Genetic Risk for HCA Number in parentheses indicates the number of articles describing each element, category, and sub-category of the updated FCGR.