Left ventricular ejection fraction (Pirruccello, 2020)

model of human heart

STUDY TITLE: Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy

SUMMARY: Identification of 22 genetic variants associated with the heart’s left ventricular ejection fraction (LVEF).

OVERVIEW: The human heart is a muscle that pumps blood throughout the body. It consists of 4 chambers: 2 atria (left and right) and 2 ventricles (left and right). Blood that has been enriched with oxygen in the lungs enters the left atrium and then flows into the left ventricle from where it’s pumped to all other parts of the body. When the left ventricle contracts, not all blood is ejected and some remains inside of the ventricle. Left ventricular ejection fraction (LVEF) is calculated by dividing the blood volume that leaves the left ventricle when the heart muscles contract by the blood volume that remains inside the left ventricle. A normal left ventricular ejection fraction (LVEF) ranges from 55% to 70%. To identify genetic variants associated with LVEF, this genome-wide association study examined over 36,000 individuals of European ancestry. The study identified 22 genetic variants including variants near genes that are responsible for the flexibility of the heart’s muscle (TTN) and genes associated with the immune system. Together these variants explain ~ 31% of LVEF heritability. The study also found that a high polygenic score for LVEF was strongly correlated with the risk of dilated cardiomyopathy. This condition describes a heart muscle that is too stretched thin and cannot pump efficiently.

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SAMPLE RESULTS: Learn more about the Nebula Research Library.

Left ventricular ejection fraction sample results

LVEF-ASSOCIATED VARIANTS: rs72840788, rs1739837, rs2562845, rs11710541, rs3176326, rs3807309, rs12452367, rs2070458, rs56099248, rs8023658, rs35999985, rs5029142, rs10871753, rs10925197, rs4073554, rs36029352, rs113819537, rs9274626, rs2047273, rs189569984, rs721067, rs2503715

The heart (Video)
Ejection fraction

Stroke volume (Pirruccello, 2020)
Left ventricular end-diastolic volume (Pirruccello, 2020)
Left ventricular end-systolic volume (Pirruccello, 2020)
Resting heart rate (Eppinga, 2016)

WEEKLY UPDATE: May 19, 2020