Heart failure is an expanding public health problem that is commonly attributable to known risk factors and occasionally is caused by familial cardiomyopathies. Yet a gap still remains in our understanding of the underlying molecular mechanisms of heart failure. Closing this gap may lead to improvements in prevention as well as pre-emption.
Monogenic syndromes of familial hypertrophic or dilated cardiomyopathy are well documented and arise from rare mutations in genes encoding proteins that regulate the contractile function of the heart, including sarcomere and cytoskeletal components. However, for more common forms of heart failure, the spectrum of underlying etiologies is considered complex, and genetic association studies in large heart failure populations have yielded comparatively limited insight.
O’Donnell CJ, Yancy CW, McNally EM. Is Heart Failure Inherited? Beyond the Cardiomyopathies, Genetics Do Matter. JAMA Cardiol. 2018;3(8):710–711. doi:10.1001/jamacardio.2018.1918
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