High-Throughput Metabolomics Applications in Pathogenesis and Diagnosis of Valvular Heart Disease

Daniel W Mutithu; Jennifer A Kirwan; Henry A Adeola; Olukayode O Aremu; Evelyn N Lumngwena; Lubbe Wiesner; Sebastian Skatulla; Richard Naidoo; Ntobeko A B Ntusi

doi:10.31083/j.rcm2406169

High-Throughput Metabolomics Applications in Pathogenesis and Diagnosis of Valvular Heart Disease

Rev Cardiovasc Med. 2023 Jun 8;24(6):169. doi: 10.31083/j.rcm2406169. eCollection 2023 Jun.

Authors

Daniel W Mutithu^{1

2

3}, Jennifer A Kirwan^{4

5}, Henry A Adeola⁶, Olukayode O Aremu^{1

2

3}, Evelyn N Lumngwena^{1

2

3

7}, Lubbe Wiesner⁸, Sebastian Skatulla⁹, Richard Naidoo¹⁰, Ntobeko A B Ntusi^{1

2

3

11

12}

Affiliations

¹ Division of Cardiology, Department of Medicine, Faculty of Health Sciences, University of Cape Town and Groote Schuur Hospital, 7925 Cape Town, South Africa.
² Cape Heart Institute, Faculty of Health Sciences, University of Cape Town, 7925 Cape Town, South Africa.
³ Extramural Unit on Intersection of Noncommunicable Diseases and Infectious Diseases, South African Medical Research Council, 7501 Cape Town, South Africa.
⁴ Metabolomics Platform, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, 10117 Berlin, Germany.
⁵ Max-Delbrück-Center (MDC) for Molecular Medicine in the Helmholtz Association, 13125 Berlin, Germany.
⁶ Hair and Skin Research Laboratory, Division of Dermatology, Department of Medicine, University of Cape Town, 7925 Cape Town, South Africa.
⁷ Institute of Infectious Diseases and Molecular Medicine (IIDM), University of Cape Town, 7925 Cape Town, South Africa.
⁸ Division of Clinical Pharmacology, Department of Medicine, University of Cape Town, 7925 Cape Town, South Africa.
⁹ Computational Continuum Mechanics Research Group, Department of Civil Engineering, Faculty of Engineering and the Built Environment, University of Cape Town, 7925 Cape Town, South Africa.
¹⁰ Division of Anatomical Pathology, Department of Pathology, University of Cape Town, and National Health Laboratory Services, 7925 Cape Town, South Africa.
¹¹ Cape Universities Body Imaging Centre, Faculty of Health Sciences, University of Cape Town, 7925 Cape Town, South Africa.
¹² Wellcome Centre for Infectious Disease Research, Faculty of Health Sciences, University of Cape Town, 7925 Cape Town, South Africa.

Abstract

High-throughput metabolomics techniques are a useful tool to understand many disease conditions including cardiovascular disease such as valvular heart disease(s) (VHD). VHD involves damage to heart valves, mostly presenting as stenosis, regurgitation or prolapse and can be classified into degenerative, rheumatic, congenital, or prosthetic valve disease. Gaps remain in our understanding of the pathogenesis of the common VHD. It is now fitting to place into perspective the contribution of metabolomics in the mechanism of development, diagnosis, and prognosis of VHD. A structured search for metabolomics studies centred on human VHD was undertaken. Biomarkers associated with the pathogenesis of bicuspid aortic valve disease, mitral valve disease, rheumatic heart disease, and degenerative aortic valve stenosis are reviewed and discussed. In addition, metabolic biomarkers reported to prognosticate patient outcomes of post-valve repair or replacement are highlighted. Finally, we also review the pitfalls and limitations to consider when designing metabolomics studies, especially from a clinician's viewpoint. In the future, reliable and simple metabolic biomarker(s) may supplement the existing diagnostic tools in the early diagnosis of VHD.

Keywords: degenerative valve disease; mass spectrometry; metabolomics; rheumatic valve disease; valvular heart disease.

Publication types

Review

Grants and funding

This research is funded through a Blue Skies research grant from the National Research Foundation to Sebastian Skatulla (Grant Numbers 104839 and 105858). In addition, Ntobeko Ntusi gratefully acknowledges funding from the National Research Foundation, South African Medical Research Council and the Lily and Ernst Hausmann Trust.