2026-04-20T01:05:08Zhttps://recercat.cat/oai/requestoai:recercat.cat:10256/286782026-04-18T21:02:24Zcom_2072_452966com_2072_2054col_2072_452968
RECERCAT
author
Puig Torrens, Júlia
2026-04-18T21:02:24Z
2026-04-18T21:02:24Z
2025-11
https://hdl.handle.net/10256/28678
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 statistics3
Attribution-NonCommercial-NoDerivatives 4.0 International http://creativecommons.org/licenses/by-nc-nd/4.0/ info:eu-repo/semantics/openAccess
Cardiopatia congènita
Congenital heart disease
Cor -- Malalties -- Aspectes genètics
Heart -- Diseases -- Genetic aspects
Cribratge genètic -- Aspectes psicològics
Genetic screening -- Psychological aspects
Pacients -- Satisfacció
Patient satisfaction
Cor -- Malalties -- Detecció precoç
Heart -- Diseases -- Early detection
Psychological distress in relatives undergoing familial screening for hypertrophic or dilated cardiomyopathy: a prospective longitudinal observational cohort study
info:eu-repo/semantics/bachelorThesis