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Inherited cardiomyopathies: the patient perspective

Research output: Types of ThesisDoctoral ThesisInternal

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Abstract

Cardiomyopathies are a heterogeneous group of myocardial disorders with variable genetic, phenotypic, and clinical expression. This dissertation was written during a period of rapid advancement in the field, culminating in the 2023 European Society of Cardiology Cardiomyopathy Guidelines. The work focuses primarily on hypertrophic cardiomyopathy (HCM) and other inherited cardiomyopathies, integrating perspectives ranging from disease burden and quality of life to clinical management and genotype–phenotype relationships. Using large-scale studies and detailed patient-level analyses, this thesis highlights the individuality of disease expression, the importance of precision diagnostics, and the need for patient-centred care. Ultimately, it underscores how advances in genetics, imaging, and treatment are reshaping our understanding and management of inherited cardiomyopathies, with implications for both patients and society.
Original languageEnglish
Awarding Institution
  • Erasmus University Rotterdam
Supervisors/Advisors
  • de Boer, Rudolf, Supervisor
  • Michels, Michelle, Co-supervisor
Award date30 Sept 2025
Place of PublicationRotterdam
Print ISBNs978-94-6522-627-9
Publication statusPublished - 30 Sept 2025

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