Genetic Testing as a Guide for Treatment in Dilated Cardiomyopathies

Purpose of review: Dilated cardiomyopathy (DCM) is one of the most prevalent primary cardiomyopathies and may be caused by genetic and non-genetic etiologies. DCM may also be the final common pathway of other cardiomyopathies such as hypertrophic, arrhythmogenic, or non-compaction cardiomyopathy. We review the main DCM genetic substrates, specific genotype-phenotype aspects, the role of genetic testing in risk stratification, and advances regarding genotype-based precision medicine.

Recent findings: Performing a comprehensive genetic study could have a diagnostic yield up to 40% in DCM, and it is considered a cost-effective approach nowadays. The detection of a specific underlying genetic substrate explaining the disease can have important consequences for clinical management, especially for familial cascade screening, optimizing medical treatment, and improving the arrhythmic risk stratification. The identification of the genetic substrate underlying dilated cardiomyopathy makes possible the genotype-phenotype correlation analysis and a better understanding of the natural history of this disease. Nowadays, there are many promising targeting-gene therapies in different developing phases.