Dataset Information

Diagnosis and Risk Prediction of Dilated Cardiomyopathy in the Era of Big Data and Genomics.

ABSTRACT: Dilated cardiomyopathy (DCM) is a leading cause of heart failure and life-threatening ventricular arrhythmias (LTVA). Work-up and risk stratification of DCM is clinically challenging, as there is great heterogeneity in phenotype and genotype. Throughout the last decade, improved genetic testing of patients has identified genotype-phenotype associations and enhanced evaluation of at-risk relatives leading to better patient prognosis. The field is now ripe to explore opportunities to improve personalised risk assessments. Multivariable risk models presented as "risk calculators" can incorporate a multitude of clinical variables and predict outcome (such as heart failure hospitalisations or LTVA). In addition, genetic risk scores derived from genome/exome-wide association studies can estimate an individual's lifetime genetic risk of developing DCM. The use of clinically granular investigations, such as late gadolinium enhancement on cardiac magnetic resonance imaging, is warranted in order to increase predictive performance. To this end, constructing big data infrastructures improves accessibility of data by using electronic health records, existing research databases, and disease registries. By applying methods such as machine and deep learning, we can model complex interactions, identify new phenotype clusters, and perform prognostic modelling. This review aims to provide an overview of the evolution of DCM definitions as well as its clinical work-up and considerations in the era of genomics. In addition, we present exciting examples in the field of big data infrastructures, personalised prognostic assessment, and artificial intelligence.

SUBMITTER: Sammani A

PROVIDER: S-EPMC7956169 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature

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Diagnosis and Risk Prediction of Dilated Cardiomyopathy in the Era of Big Data and Genomics.

Sammani Arjan A Baas Annette F AF Asselbergs Folkert W FW Te Riele Anneline S J M ASJM

Journal of clinical medicine 20210226 5

Dilated cardiomyopathy (DCM) is a leading cause of heart failure and life-threatening ventricular arrhythmias (LTVA). Work-up and risk stratification of DCM is clinically challenging, as there is great heterogeneity in phenotype and genotype. Throughout the last decade, improved genetic testing of patients has identified genotype-phenotype associations and enhanced evaluation of at-risk relatives leading to better patient prognosis. The field is now ripe to explore opportunities to improve perso ...[more]

PMID: 33652931

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Project description:BackgroundRadiology plays a highly crucial role in the diagnosis, treatment, and prognosis prediction of dilated cardiomyopathy (DCM). Related research has increased rapidly over the past few years, but systematic analyses are lacking. This study thus aimed to provide a reference for further research by analyzing the knowledge field, development trends, and research hotspots of radiology in DCM using bibliometric methods.MethodsArticles on the radiology of DCM published between 2002 and 2021 in the Web of Science Core Collection database (WoSCCd) were searched and analyzed. Data were retrieved and analyzed using CiteSpace V, VOSviewer, and Scimago Graphic software, and included the name, research institution, and nationality of authors; journals of publication; and the number of citations.ResultsA total of 4,257 articles were identified on radiology of DCM from WoSCCd. The number of articles published in this field has grown steadily from 2002 to 2021 and is expected to reach 392 annually by 2024. According to subfields, the number of papers published in cardiac magnetic resonance field increased steadily. The authors from the United States published the most (1,364 articles, 32.04%) articles. The author with the most articles published was Bax JJ (54 articles, 1.27%) from Leiden University Medical Center. The most cited article was titled "2016 ESC Guidelines for the diagnosis and treatment of acute and chronic heart failure", with 138 citations. Citation-based clustering showed that arrhythmogenic cardiomyopathy, T1 mapping, and endomyocardial biopsy are the current hots pots for research in DCM radiology. The most frequently occurring keyword was "dilated cardiomyopathy". The keyword-based clusters mainly included "late gadolinium enhancement", "congestive heart failure", "cardiovascular magnetic resonance", "sudden cardiac death", "ventricular arrhythmia", and "cardiac resynchronization therapy".ConclusionsThe United States and Northern Europe are the most influential countries in research on DCM radiology, with many leading distinguished research institutions. The current research hots pots are myocardial fibrosis, risk stratification of ventricular arrhythmia, the prognosis of cardiac resynchronization therapy (CRT) treatment, and subtype classification of DCM.

Dataset Information

Diagnosis and Risk Prediction of Dilated Cardiomyopathy in the Era of Big Data and Genomics.

Publications

Diagnosis and Risk Prediction of Dilated Cardiomyopathy in the Era of Big Data and Genomics.

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