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Published on: September 28, 2018
Imagenetics for Precision Medicine in Dilated Cardiomyopathy
Alexios S Antonopoulos1, Anastasia Xintarakou1, Alexandros Protonotarios2,3
11st Cardiology Department, Hippokration Hospital, National and Kapodistrian University of Athens, Greece (A.S.A., A.X., G.L., A.M., K.T., C.V.).
Insights
Genetic dilated cardiomyopathy (DCM) requires personalized risk assessment. Combining advanced imaging and genetics (imagenetics) can improve genotype-phenotype correlations and guide precision medicine for DCM patients.
Area of Science:
- Cardiology
- Genetics
- Molecular Biology
Background:
- Dilated cardiomyopathy (DCM) is a common nonischemic heart muscle disorder linked to heart failure, arrhythmias, and sudden cardiac death.
- Genetic DCM presents variably, necessitating tailored risk stratification and sudden cardiac death prevention strategies.
- Advances in cardiogenetics and cardiac imaging have improved understanding of DCM mechanisms, genetic architecture, and phenotypic spectrum.
Purpose of the Study:
- To review current literature on the role of genetics and imaging in DCM.
- To summarize established and emerging data on genotype-phenotype associations in DCM.
- To highlight the potential of combining imaging and genetics (imagenetics) for precision medicine in DCM.
Main Methods:
- Literature review of existing research on genetics, imaging, and DCM.
- Analysis of genotype-phenotype correlations in various DCM subtypes.
- Exploration of the emerging field of imagenetics in DCM.
Main Results:
- Genetics and imaging have advanced DCM recognition and understanding of disease mechanisms.
- Established genotype-phenotype associations exist for specific DCM subtypes (e.g., DSP, FLNC), but are often elusive.
- Imagenetics holds promise for improving genotype-phenotype correlations and clinical decision-making.
Conclusions:
- Genetics and imaging are crucial for understanding DCM, but genotype-phenotype correlations remain challenging.
- Further research combining imaging and genetics is needed to advance precision medicine for DCM patients.
- Identifying patients at risk for progression or remission requires continued investigation into disease mechanisms.
Abstract:
Dilated cardiomyopathy (DCM) is a common heart muscle disorder of nonischemic etiology associated with heart failure development and the risk of malignant ventricular arrhythmias and sudden cardiac death. A tailored approach to risk stratification and prevention of sudden cardiac death is required in genetic DCM given its variable presentation and phenotypic severity. Currently, advances in cardiogenetics have shed light on disease mechanisms, the complex genetic architecture of DCM, polygenic contributors to disease susceptibility and the role of environmental triggers. Parallel advances in imaging have also enhanced disease recognition and the identification of the wide spectrum of phenotypes falling under the DCM umbrella. Genotype-phenotype associations have been also established for specific subtypes of DCM, such as DSP (desmoplakin) or FLNC (filamin-C) cardiomyopathy but overall, they remain elusive and not readily identifiable. Also, despite the accumulated knowledge on disease mechanisms, certain aspects remain still unclear, such as which patients with DCM are at risk for disease progression or remission after treatment. Imagenetics, that is, the combination of imaging and genetics, is expected to further advance research in the field and contribute to precision medicine in DCM management and treatment. In the present article, we review the existing literature in the field, summarize the established knowledge and emerging data on the value of genetics and imaging in establishing genotype-phenotype associations in DCM and in clinical decision making for DCM patients.
