Key result
Increased understanding of the genetic and phenotypic associations of heritable cardiomyopathies facilitates risk stratification, appropriate surveillance, and identification of at-risk family members.
Why the study?
A disparity exists between the expanding landscape of cardiovascular genetics and the lack of awareness in this field, demonstrating a need to update training and education.
Understanding the genetic and phenotypic associations of heritable cardiomyopathies facilitates risk stratification, appropriate surveillance, and identification of at-risk family members.
Supports expanded genetic testing in cardiomyopathies; leaves open validation of clinical impact and management changes.
Cardiomyopathies (CMs) encompass a heterogeneous group of structural and functional abnormalities of the myocardium. The phenotypic characteristics of these myocardial diseases range from silent to symptomatic heart failure, to sudden cardiac death due to malignant tachycardias. These diseases represent a leading cause of cardiovascular morbidity, cardiac transplantation, and death. Since the discovery of the first locus associated with hypertrophic cardiomyopathy 30 years ago, multiple loci and molecular mechanisms have been associated with these cardiomyopathy phenotypes. Conversely, the disparity between the ever-growing landscape of cardiovascular genetics and the lack of awareness in this field noticeably demonstrates the necessity to update training curricula and educational pathways. This review summarizes the current understanding of heritable CMs, including the most common pathogenic gene variants associated with the morpho-functional types of cardiomyopathies: dilated, hypertrophic, arrhythmogenic, non-compaction, and restrictive. Increased understanding of the genetic/phenotypic associations of these heritable diseases would facilitate risk stratification to leveraging appropriate surveillance and management, and it would additionally provide identification of family members at risk of avoidable cardiovascular morbidity and mortality.
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Martinez et al. (2021) conducted a review in Heritable Cardiomyopathies. Increased understanding of the genetic and phenotypic associations of heritable cardiomyopathies facilitates risk stratification, appropriate surveillance, and identification of at-risk family members.
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