2023
DOI: 10.1101/2023.03.11.23285908
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A genotype-phenotype taxonomy of hypertrophic cardiomyopathy

Abstract: Background Hypertrophic cardiomyopathy (HCM) is an important cause of sudden cardiac death associated with heterogeneous structural phenotypes but there is no systematic framework for classifying morphology or assessing associated risks. In this study we quantitatively survey genotype-phenotype associations in HCM to derive a data-driven taxonomy of disease expression for automated patient stratification. Methods An observational, single-centre study enrolled 436 HCM patients (median age 60 years; 28.8% women)… Show more

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“…This process produced a 46,808 × 4 matrix, where for each of the 46,808 points there is a value for the x, y, and z coordinates of the ventricle, and the wall thickness at that point. These segmentations were performed on images in the UK Biobank dataset (13) and an in-house Hypertrophic Cardiomyopathy (HCM) cohort (Royal Brompton Hospital Cardiovascular Biobank (14)). The total number of samples used here was 1,273, consisting of 634 hypertrophic cardiomyopathy (HCM) patients and 639 demographically-matched HCs.…”
Section: Methodsmentioning
confidence: 99%
“…This process produced a 46,808 × 4 matrix, where for each of the 46,808 points there is a value for the x, y, and z coordinates of the ventricle, and the wall thickness at that point. These segmentations were performed on images in the UK Biobank dataset (13) and an in-house Hypertrophic Cardiomyopathy (HCM) cohort (Royal Brompton Hospital Cardiovascular Biobank (14)). The total number of samples used here was 1,273, consisting of 634 hypertrophic cardiomyopathy (HCM) patients and 639 demographically-matched HCs.…”
Section: Methodsmentioning
confidence: 99%