model of heart

Left ventricular end-diastolic volume (Pirruccello, 2020)

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

SUMMARY: Identification of 14 genetic variants associated with the left ventricular end-diastolic volume (LVEDV).

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. Left ventricular end-diastolic volume (LVEDV) is the volume of blood in a relaxed left ventricle right before it contracts and pumps blood into the body. The average LVEDV is 120mL for women and 150mL for men and can be used as a measure of heart health. This genome-wide association study examined the genomes of 36,000 individuals of European ancestry to better understand the genetic basis of LVEDV. The study identified 14 genomic regions associated with LVEDV adjusted for body-surface-area. The study also found a strong inverse relationship between the polygenic score for larger LVEDV and hypothyroidism.

DID YOU KNOW? On average, the human heart pumps ~2,000 gallons (7,600 liters) of blood throughout the body every day. [SOURCE]

SAMPLE RESULTS: Learn more about the Nebula Research Library.

left ventricular end-diastolic volume sample results

LVEDV-ASSOCIATED VARIANTS: rs1873164, rs9797817, rs72967533, rs72840788, rs73028849, rs1976402, rs6458349, rs9480737, rs7502466, rs12499670, rs10850034

ADDITIONAL RESOURCES:
The heart (Video)
How the heart works
End-diastolic volume

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Left ventricular ejection fraction (Pirruccello, 2020)
Left ventricular end-systolic volume (Pirruccello, 2020)
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Cardiomyopathy (Meder, 2014)

WEEKLY UPDATE: May 19, 2020


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