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Valvular heart disease and cardiomyopathy: reappraisal of their interplay

Nature Reviews Cardiology (2023)Cite this article

Subjects

Abstract

Cardiomyopathies and valvular heart diseases are typically considered distinct diagnostic categories with dedicated guidelines for their management. However, the interplay between these conditions is increasingly being recognized and they frequently coexist, as in the paradigmatic examples of dilated cardiomyopathy and hypertrophic cardiomyopathy, which are often complicated by the occurrence of mitral regurgitation. Moreover, cardiomyopathies and valvular heart diseases can have a shared aetiology because several genetic or acquired diseases can affect both the cardiac valves and the myocardium. In addition, the association between cardiomyopathies and valvular heart diseases has important prognostic and therapeutic implications. Therefore, a better understanding of their shared pathophysiological mechanisms, as well as of the prevalence and predisposing factors to their association, might lead to a different approach in the risk stratification and management of these diseases. In this Review, we discuss the different scenarios in which valvular heart diseases and cardiomyopathies coexist, highlighting the need for an improved classification and clustering of these diseases with potential repercussions in the clinical management and, particularly, personalized therapeutic approaches.

Key points

  • Cardiomyopathies and valvular heart diseases are traditionally considered to be distinct diagnostic categories, but their coexistence is increasingly being recognized in several clinical settings.

  • Dilated cardiomyopathy and hypertrophic cardiomyopathy are the paradigmatic examples of the coexistence of valvular heart disease and cardiomyopathy, given that these cardiomyopathies are often associated with mitral regurgitation, which further complicates their management.

  • Cardiomyopathies and valvular heart disease can also share specific pathophysiological mechanisms, given that various genetic or acquired diseases can affect both the valves and the myocardium, including storage or immune-mediated disorders and radiation-induced cardiac damage.

  • The association between cardiomyopathies and valvular heart diseases can have prognostic implications and can affect clinical decision-making; therefore, a personalized medicine approach is advocated for patients in whom these conditions coexist.

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Fig. 1: Interplay between valvular heart diseases and cardiomyopathies.
Fig. 2: Mitral regurgitation in hypertrophic and dilated cardiomyopathy.
Fig. 3: Arrhythmic mitral valve prolapse.
Fig. 4: Cardiac amyloidosis and aortic stenosis.
Fig. 5: Workflow for the assessment and management of patients with concomitant cardiomyopathy and valvular heart disease.

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Author notes

  1. These authors contributed equally: Nina Ajmone Marsan, Francesca Graziani.

  2. These authors jointly supervised this work: J. Wouter Jukema, Filippo Crea.

Authors and Affiliations

  1. Department of Cardiology, Leiden University Medical Center, Leiden, The Netherlands

    Nina Ajmone Marsan, Maria Chiara Meucci, Hoi W. Wu, Jeroen J. Bax & J. Wouter Jukema

  2. Department of Cardiovascular Science, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy

    Francesca Graziani, Maria Chiara Meucci, Rosa Lillo, Francesco Burzotta, Massimo Massetti & Filippo Crea

  3. Catholic University of the Sacred Heart, Rome, Italy

    Rosa Lillo, Francesco Burzotta, Massimo Massetti & Filippo Crea

  4. Heart Center, University of Turku and Turku University Hospital, Turku, Finland

    Jeroen J. Bax

  5. Netherlands Heart Institute, Utrecht, The Netherlands

    J. Wouter Jukema

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Contributions

N.A.M., F.G., M.C.M., H.W.W. and R.L. researched data for the article. N.A.M., F.G., M.C.M. and R.L. provided substantial contribution to the discussion of content. All the authors wrote the manuscript and reviewed and/or edited it before submission.

Corresponding author

Correspondence to Nina Ajmone Marsan.

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Competing interests

N.A.M. received speaker fees from Abbott Vascular, GE Healthcare and Philips Ultrasound and a research grant from Alnylam and Pfizer. F.G. received honoraria for board meetings; speaker fees from Sanofi-Genzyme, Shire, Takeda and Pfizer and research grants from Takeda and Pfizer. R.L. received honoraria for board meetings from Sanofi-Genzyme and Shire. J.J.B. received speaker fees from Abbott Vascular. F.B. received speaker fees from Abiomed, Abbott, Medtronic and Terumo. J.W.J. and his department received research grants from and/or was a speaker (with or without lecture fees) at meetings sponsored or supported by Abbott, Amarin, Amgen, Athera, Biotronik, Boston Scientific, Dalcor, Daiichi Sankyo, Edwards Lifesciences, GE Healthcare, Johnson and Johnson, Lilly, Medtronic, Merck-Schering-Plough, Novartis, Novo Nordisk, Pfizer, Roche, Sanofi Aventis, the Netherlands Heart Foundation, CardioVascular Research the Netherlands, the Netherlands Heart Institute and the European Community Framework KP7 Programme. F.C. received personal fees from Amgen, Astra Zeneca, BMS, GlyCardial Diagnostics and Servier. The other authors declare no competing interests.

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Ajmone Marsan, N., Graziani, F., Meucci, M.C. et al. Valvular heart disease and cardiomyopathy: reappraisal of their interplay. Nat Rev Cardiol (2023). https://doi.org/10.1038/s41569-023-00911-0

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