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Article

Penetrance of Hypertrophic Cardiomyopathy in Sarcomere Protein Mutation Carriers.

Journal of the American College of Cardiology - 4 Aug 2020

Lorenzini Massimiliano, Norrish Gabrielle, Field Ella, Ochoa Juan Pablo, Cicerchia Marcos, Akhtar Mohammed M, Syrris Petros, Lopes Luis R, Kaski Juan Pablo, Elliott Perry M

Abstract excerpt

BACKGROUND: Predictive genetic screening of relatives of patients with hypertrophic cardiomyopathy (HCM) caused by sarcomere protein (SP) gene mutations is current standard of care, but there are few data on long-term outcomes in mutation carriers without HCM. OBJECTIVES: The aim of this study was to determine the incidence of new HCM diagnosis in SP mutation carriers. METHODS: This was a retrospective analysis...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 32731933
DOI: 10.1016/j.jacc.2020.06.011
PMCID: PMC7397507

Genes

MYBPC3
TNNI3
ACTC1
MYH7
MYL2
TNNT2
TPM1

Provenance

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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