Phenotypes of Cardiovascular Diseases: Current Status and Future Perspectives

Abstract

Cardiovascular diseases (CVDs) are a large group of diseases and have become the leading cause of morbidity and mortality worldwide. Although considerable progresses have been made in the diagnosis, treatment and prognosis of CVD, communication barriers between clinicians and researchers still exist because the phenotypes of CVD are complex and diverse in clinical practice and lack of unity. Therefore, it is particularly important to establish a standardized and unified terminology to describe CVD. In recent years, there have been several studies, such as the Human Phenotype Ontology, attempting to provide a standardized description of the disease phenotypes. In the present article, we outline recent advances in the classification of the major types of CVD to retrospectively review the current progresses of phenotypic studies in the cardiovascular field and provide a reference for future cardiovascular research.

Phenomic Studies on Diseases: Potential and Challenges

“…There is evidence indicating that phenomic approach is a novel and revolutionary approach for accelerating profoundly the discoveries of novel risk factors (Andrews et al 2021 ; Nikpay and Mohammadzadeh 2020 ; Went et al 2020 ; Yang et al 2022 ; You et al 2022 ), diagnostic methods (Rahman and Rahman 2019 ; Viganò et al 2012 ; Xu et al 2022 ; Zhang et al 2021 , 2022a , e ), and therapeutic strategies (Delude 2015 ; Robinson 2012 ; Zhang et al 2021 ). Compared to genomic approach for studying diseases, phenomic studies on diseases determine a number of cross-scale phenomic parameters on several levels, including molecular level, cellular level, tissue and organ level, and systemic level (Table 1 ).…”

“…To overcome these severe challenges, novel preventive strategies, diagnostic approaches and therapeutic strategies are urgently and critically needed. Increasing evidence has suggested that phenomics has provided a revolutionary strategy and approach for discovering new risk factors (Andrews et al 2021 ; Nikpay and Mohammadzadeh 2020 ; Went et al 2020 ; Yang et al 2022 ; You et al 2022 ), diagnostic biomarkers (Nicholson 2021 ; Xu et al 2022 ; Zhang et al 2022a ) and precision therapies (Delude 2015 ; Nicholson 2021 ; Robinson 2012 ; Zhang et al 2021 ) for human diseases.…”

“…Phenomics has been established on the basis of the following development: first, there has been rapid development of multi-omics technologies that include genomics, proteomics, metabolomics, radiomics, epigenomics, transcriptomics and microbiomics (Hasin et al 2017 ; Leon-Mimila et al 2019 ; Olivier et al 2019 ; Panunzio et al 2021 ). Development of numerous new technologies including multi-omics technologies has enabled us to conduct large scale, multi-dimensional determinations on the biological properties of human subjects; second, development of AI and big data science has made it possible to analyze the big data from phenomic studies (Biswas and Chakrabarti 2020 ); third, development of modern biology and medicine has exposed significant relationships among various biological properties of human, indicating the potential and importance of not only determining the properties of individual units of life, including individual organs, tissues, cells and molecules, but also investigating the relationships among the biological properties of these units; fourth, it is required by precision medicine that multi-dimensional data of patients are collected and analyzed (Delude 2015 ; Houle et al 2010 ; Newgard and Attie 2010 ; Nicholson 2021 ; Zhang et al 2021 ); and fifth, cumulative evidence has indicated that the information from genetic studies on patients is far from sufficient for elucidating the mechanisms of diseases and establishing novel strategies for diagnosis and treatment of diseases (Delude 2015 ; Hasin et al 2017 ; Wu et al 2016 ).…”

“…Increasing evidence has indicated the significance and urgency for applications of phenomics in studying diseases (Delude 2015 ; Houle et al 2010 ; Newgard and Attie 2010 ; Nicholson 2021 ; Zhang et al 2021 ). However, since it is still in early developmental stage, phenomic studies on disease are facing multiple major challenges and tasks.…”

Proteome profiling of early gestational plasma reveals novel biomarkers of congenital heart disease

“…Congenital heart disease (CHD) is the most common type of birth defect globally (van der Linde et al , 2011; Zhang et al , 2021a). Owing to its high incidence and fatality rate, the prompt detection of CHD in early pregnancy is imperative for prevention and treatment (Botto, 2000).…”