Psychological distress in relatives undergoing familial screening for hypertrophic or dilated cardiomyopathy: a prospective longitudinal observational cohort study

Abstract

BACKGROUND: Inherited cardiomyopathies, such as hypertrophic cardiomyopathy (HCM) and dilated (DCM) cardiomyopathy, can present with a wide range of symptoms and in some occasions lead to sudden cardiac death (SCD) in young individuals. Familial screening enables early identification of at-risk relatives, enabling prevention and improving clinical management. While the psychological burden of affected individuals has been well documented, the emotional impact of screening of at-risk asymptomatic relatives requires additional evaluation. Understanding the psychological responses to screening is essential for optimizing genetic counseling and psychological support for families. OBJECTIVE: To evaluate the psychological distress associated with familial cardiomyopathy screening, examining differences between gene-positive and gene-elusive families and changes over a one-year period. DESIGN: Prospective, longitudinal, observational cohort study conducted at the Familial Cardiomyopathies Unit, Hospital Universitari de Girona Dr. Josep Trueta over a 3-year period. The current study encompasses (1) a cross-sectional comparison of emotional distress at baseline between relatives belonging to gene-positive and gene-elusive families, and (2) a longitudinal evaluation of changes in distress after one-year of follow-up. PARTICIPANTS: Asymptomatic adult relatives of index patients diagnosed with HCM or DCM, recruited consecutively at their first visit for family screening. METHODS: A total of 168 participants will be recruited and divided into two subgroups based on family genetic status: gene-positive gene-elusive families. Psychological distress will be measured using the Hospital Anxiety and Depression Scale (HADS) at three time points: baseline (T0), immediately after disclosure of genetic results (Tg, for those belonging to gene-positive families only), and one-year follow-up (T1). Data will be recorded in an electronic Case Report Form and analyzed using descriptive and inferential statistics

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