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Assessing Quality of Life in Genetic Cardiomyopathies: A Scoping Review

Lucrezia Tomberli1, Fausto Barlocco2, Annariina Koivu3

  • 1Department of Education, Languages, Intercultures, Literatures and Psychology (FORLILPSI), University of Florence, 50121 Florence, Italy.

International Journal of Environmental Research and Public Health
|July 28, 2026
PubMed

Insights

Quality of life (QoL) and health-related QoL (HRQoL) are crucial in genetic cardiomyopathies (GCMs) but inconsistently measured. This review highlights the need for standardized tools and patient-centered approaches for better GCM care.

Area of Science:

  • Cardiology
  • Medical Research
  • Patient Outcomes

Background:

  • Genetic cardiomyopathies (GCMs) are chronic conditions necessitating continuous care.
  • Quality of life (QoL) and health-related QoL (HRQoL) are vital in GCM management but lack consistent assessment.
  • Existing research shows variability in conceptualizing and measuring QoL/HRQoL in GCM patients.

Purpose of the Study:

  • To identify common QoL and HRQoL assessment tools used in adult GCM patients.
  • To map thematic areas explored in GCM QoL/HRQoL research, including symptoms and interventions.
  • To highlight inconsistencies in QoL/HRQoL measurement and suggest improvements.

Main Methods:

  • Systematic literature search of PubMed, Scopus, and PsycINFO up to November 2025.
  • Included 17 peer-reviewed studies using quantitative, qualitative, and mixed-methods designs.
  • Followed PRISMA extension for Scoping Reviews methodology.

Main Results:

  • Commonly used tools include EQ-5D, SF-36/SF36v2, and Kansas City Cardiomyopathy Questionnaire.
  • Key themes investigated: physical functioning, emotional well-being, symptom burden, psychological distress, and social participation.
  • Perceived QoL is more linked to symptoms and psychological adjustment than clinical indicators; interventions show mixed QoL effects.

Conclusions:

  • QoL and HRQoL are central but inconsistently assessed in GCM research.
  • Calls for conceptual clarity, standardized measurement, inclusion of psychosocial factors, and patient-centered research.
  • Improved assessment is crucial for better supporting individuals with GCMs.

Keywords:
QoL measurementsgenetic cardiomyopathyhealth related quality of lifepatient-centred approachespsychosocial factorsquality of lifewell-being

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