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Article

Meta-Analysis of Penetrance and Systematic Review on Transition to Disease in Genetic Hypertrophic Cardiomyopathy.

Circulation - 9 Jan 2024

Topriceanu Constantin-Cristian, Pereira Alexandre C, Moon James C, Captur Gabriella, Ho Carolyn Y

Abstract excerpt

BACKGROUND: Hypertrophic cardiomyopathy (HCM) is characterized by unexplained left ventricular hypertrophy and is classically caused by pathogenic or likely pathogenic variants (P/LP) in genes encoding sarcomere proteins. Not all subclinical variant carriers will manifest clinically overt disease because penetrance (proportion of sarcomere or sarcomere-related P/LP variant carriers who develop disease) is...

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Identifiers

PMID: 37929589
DOI: 10.1161/CIRCULATIONAHA.123.065987
PMCID: PMC10775968

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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