{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T15:07:01Z","timestamp":1785424021568,"version":"3.56.0"},"reference-count":68,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T00:00:00Z","timestamp":1782345600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000780","name":"European Union","doi-asserted-by":"crossref","award":["GA #101137115"],"award-info":[{"award-number":["GA #101137115"]}],"id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"crossref"}]},{"award":["GA #101137115"],"award-info":[{"award-number":["GA #101137115"]}],"id":[{"id":"https:\/\/ror.org\/019w4f821","id-type":"ROR","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJERPH"],"abstract":"<jats:p>Genetic cardiomyopathies (GCMs) are chronic heart muscle disorders requiring lifelong monitoring and treatment. Although quality of life (QoL) and health-related quality of life (HRQoL) are increasingly recognized as important outcomes in cardiomyopathy care, their conceptualization and measurement remain inconsistent. This scoping review aims to (a) identify the tools most commonly used to assess QoL and HRQoL in adults with genetic cardiomyopathies and (b) map the thematic areas of existing studies, including symptom burden, psychological distress, diagnostic challenges, and the impact of medical and psychological interventions. PubMed, Scopus, and PsycINFO were systematically searched, and the final search was completed in November 2025. Seventeen peer-reviewed studies met the inclusion criteria and were included in this scoping review. The review followed the PRISMA extension for Scoping Reviews and included both quantitative, qualitative and mixed-methods designs. Most studies employed standardized tools such as EQ-5D (N = 5), SF-36\/SF36v2 (N = 5), and the Kansas City Cardiomyopathy Questionnaire (N = 3), while others included the Minnesota Living with Heart Failure Questionnaire (N = 2) and disease-specific or ad hoc measures. The most frequently investigated themes included impairments in physical functioning, emotional well-being, symptom burden, psychological distress, and social participation. Several studies showed that patients\u2019 perceived QoL was more closely associated with symptom burden and psychological adjustment than with objective clinical indicators alone. Clinical interventions showed mixed or limited effects on QoL and HRQoL outcomes, even when clinical parameters improved. Qualitative research further emphasized the lived experiences of patients and families, highlighting unmet needs in care. Less commonly addressed findings concerned caregiver perspectives, patient\u2013provider communication, treatment adherence, socioeconomic disadvantage, healthcare costs, productivity loss, and the experiences of patients with rarer cardiomyopathy-related conditions. The results highlight how QoL and HRQoL are central but still inconsistently assessed outcomes in cardiomyopathy research. This review calls for greater conceptual clarity between QoL and HRQoL, greater standardization in measurement tools, broader inclusion of psychosocial variables, and more patient-centred research approaches to better support individuals living with cardiomyopathies.<\/jats:p>","DOI":"10.3390\/ijerph23070833","type":"journal-article","created":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T08:43:57Z","timestamp":1782463437000},"page":"833","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Assessing Quality of Life in Genetic Cardiomyopathies: A Scoping Review"],"prefix":"10.3390","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6822-9800","authenticated-orcid":false,"given":"Lucrezia","family":"Tomberli","sequence":"first","affiliation":[{"name":"Department of Education, Languages, Intercultures, Literatures and Psychology (FORLILPSI), University of Florence, 50121 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4342-8459","authenticated-orcid":false,"given":"Fausto","family":"Barlocco","sequence":"additional","affiliation":[{"name":"Department of Experimental and Clinical Medicine, University of Florence, 50134 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annariina","family":"Koivu","sequence":"additional","affiliation":[{"name":"Faculty of Medicine and Health Technology, Tampere University, 33014 Tampere, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1850-3055","authenticated-orcid":false,"given":"Jari","family":"Hyttinen","sequence":"additional","affiliation":[{"name":"Faculty of Medicine and Health Technology, Tampere University, 33014 Tampere, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iacopo","family":"Olivotto","sequence":"additional","affiliation":[{"name":"Department of Experimental and Clinical Medicine, University of Florence, 50134 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0401-2634","authenticated-orcid":false,"given":"Enrica","family":"Ciucci","sequence":"additional","affiliation":[{"name":"Department of Education, Languages, Intercultures, Literatures and Psychology (FORLILPSI), University of Florence, 50121 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,6,25]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"177","DOI":"10.15406\/jpcpy.2015.03.00177","article-title":"The emotional impact of chronic illness","volume":"3","author":"Nasif","year":"2015","journal-title":"J. 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