Genetic basis of right and left ventricular heart shape

Figures

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  Fig. 1. Study design overview. A flowchart summarizing the study design. Blue highlight indicates study data, green indicates a step in the study, orange indicates an exclusion of data and white describes the methodology applied at this step. QC, quality control; CMR, Cardiovascular magnetic resonance; GWAS, genome-wide association study; LVEF, left-ventricular ejection fraction; MACE, major adverse cardiac event; PC, principal component; ED, end-diastole; atlas creation methodology first described in Mauger et al. method (PMID 30440467). In the Genetic QC section exclusions (orange) are not sequential, and a participant can be in multiple exclusion groups.

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  Fig. 2. Heart shape component summary. Visualizations of the heart shape components captured by principal component analysis. From left to right on each row, the following are indicated: −2 and +2 standard deviations from the mean shape of the PC (bottom row), the PC number and estimated biological feature captured, heat-mapped visualizations of the regional shape changes observed in the PC from anterior, posterior, and basal view angles. In this, a warm color indicates topological variation in the positive direction of the PC, and a cool color indicates variation in the negative direction. In this figure we display PCs 1-11. PC, principal component; RV, right ventricular; LV, left ventricular. The figure was created using Matlab R2022a.

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  Fig. 3. Correlation of PCs with structural measures and cardiovascular diseaserisk factors. Plots summarising the Pearson’s correlation coefficient. Top is the correlation matrix between shape PCs and cardiovascular disease risk factors, below is the correlation matrix between shape PCs and CMR-derived measures of cardiac structure and function. (n = 39,538) In each correlation matrix the size of the circle indicates the p-value significance (the smallest circle is p < 0.05), and the colour of the circle indicates the strength of the Pearson’s correlation coefficient. The correlation test is two-sided in this analysis. PC, principal component; CMR, cardiovascular magnetic resonance; LV, left ventricular; RV, right ventricular; EDV, end-diastolic volume; ESV, end-systolic volume; SV, stroke volume; EF, ejection fraction; (LV/RV), ventricular mass; MVR, mass to volume ratio; BMI, body mass index; LDL, low density lipoprotein levels; HDL, high density lipoprotein levels; Triglyceride, blood triglyceride levels.

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  Fig. 4. Odds-ratio plots for relationship between PC score and cardiometabolic diseases. Bar plots illustrating the odds ratios from the logistic regression of PC scores against the incidence of cardiometabolic diseases, after adjusting for relevant covariates (n = 39,538). A vertical blue dotted line is plotted at an odds-ratio of 1, with each individual disease having an odds-ratio plotted as a central vertical line and orange point, and confidence interval lines flanking as an intersecting horizontal line denoting 95% confidence intervals. PC, principal component; OR, odds ratio; MI, myocardial infarction; HF, heart failure; HCM, hypertrophic cardiomyopathy; Diabetes, diabetes mellitus; DCM, dilated cardiomyopathy; AV block, atrioventricular block; AF, atrial fibrillation; ICD codes used to define these diseases in Supplementary Data 28.

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  Fig. 5. Odds-ratio plots for relationship between PC PRS and cardiometabolic diseases. Bar plots illustrating the odds ratios from the logistic regression of PC-derived PRS against the incidence of cardiometabolic diseases, after adjusting for relevant covariates (n = 371,264). A vertical blue dotted line is plotted at an odds-ratio of 1, with each individual disease having an odds-ratio plotted as a central vertical line and orange point, and confidence interval lines flanking as an intersecting horizontal line denoting 95% confidence intervals. PC, principal component; OR, odds ratio; PRS, polygenic risk score; MI, myocardial infarction; HF, heart failure; HCM, hypertrophic cardiomyopathy; Diabetes, diabetes mellitus; DCM, dilated cardiomyopathy; AV block, atrioventricular block; AF, atrial fibrillation; ICD codes used to define these diseases in Supplementary Data 28.