Imagenetics for Precision Medicine in Dilated Cardiomyopathy

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.