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GENETICS

Genetic insights into cardiac relaxation and filling

Nature Cardiovascular Research volume 1, pages 291–293 (2022)Cite this article

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Genome-wide association studies of magnetic resonance imaging (MRI) of diastolic heart function shed light on the underlying molecular mechanisms and support a causal role of diastolic function for the development of heart failure.

In this issue of Nature Cardiovascular Research, Thanaj and colleagues investigate the molecular mechanisms that underlie individual variability in cardiac relaxation and filling in humans by leveraging a genetic approach3. Machine learning segmentation and motion tracking are applied to cardiac magnetic resonance imaging (MRI) images from nearly 40,000 participants of the UK Biobank cohort to derive information on measures of cardiac relaxation: myocardial strain rates during early diastole. These measures reflect the velocity of myocardial deformation in early diastole and, although not used in clinical practice, provide information on relaxation and filling pressures. The researchers estimated a modest heritability of diastolic strain rates of 12–13%, and conducted genome-wide association studies to identify 7 genetic loci that met a strict Bonferroni-adjusted significance threshold.

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Fig. 1: Molecular determinants of diastolic heart function.

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Authors and Affiliations

  1. The Department of Molecular and Clinical Medicine, Institute of Medicine, Gothenburg University, Gothenburg, Sweden

    J. Gustav Smith & Olof Gidlöf

  2. The Department of Cardiology, Clinical Sciences, Faculty of Medicine, Lund University, Lund, Sweden

    J. Gustav Smith & Olof Gidlöf

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  1. J. Gustav Smith
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  2. Olof Gidlöf
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Correspondence to J. Gustav Smith.

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Smith, J.G., Gidlöf, O. Genetic insights into cardiac relaxation and filling. Nat Cardiovasc Res 1, 291–293 (2022). https://doi.org/10.1038/s44161-022-00052-6

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