Why the study?
Heart failure remains a major cause of mortality and morbidity worldwide, and understanding its genetic basis allows for the development of disease-modifying therapies, improved risk stratification, and personalised management.
This review highlights the complex genetic architecture of heart failure and cardiomyopathies, emphasizing the role of both rare Mendelian variants and common polygenic variants in disease pathogenesis and risk stratification.
Supports combined polygenic-rare variant analysis in cardiomyopathy research; leaves open clinical translation pending prospective validation.
Heart failure (HF) remains a major cause of mortality and morbidity worldwide. Understanding the genetic basis of HF allows for the development of disease-modifying therapies, more appropriate risk stratification, and personalised management of patients. The advent of next-generation sequencing has enabled genome-wide association studies; moving beyond rare variants identified in a Mendelian fashion and detecting common DNA variants associated with disease. We summarise the latest GWAS and rare variant data on mixed and refined HF aetiologies, and cardiomyopathies. We describe the recent understanding of the functional impact of titin variants and highlight FHOD3 as a novel cardiomyopathy-associated gene. We describe future directions of research in this field and how genetic data can be leveraged to improve the care of patients with HF.
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Mukhopadhyay et al. (2024) studied this question.
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