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. Author manuscript; available in PMC: 2021 Aug 18.
Published in final edited form as: J Am Coll Cardiol. 2020 Aug 18;76(7):797–808. doi: 10.1016/j.jacc.2020.06.037

Central Illustration. Individuals diagnosed and potentially missed diagnoses.

Central Illustration.

Flow chart (left) illustrating the number of individuals harboring ≥1 P/LP variant, the number of individuals predicted to develop ≥1 MCVDs, and the number of individuals with the relevant clinical diagnosis. Barplot (right) illustrating the proportions of undiagnosed patients with their likelihood of a missed diagnosis. Abbreviations: P/LP: Pathogenic/Likely Pathogenic; MCVD: Monogenic Cardiovascular Disease; HH: Hereditary Hemochromatosis; HeFH: Heterozygous Familial Hypercholesterolemia; AS: Aortic Stenosis; DMD/BMD: Duchenne/Becker Muscular Dystrophy; EDS: Ehler-Danlos Syndrome