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Article

Genotype-Phenotype Correlation in Hypertrophic Cardiomyopathy: New Variant p.Arg652Lys in MYH7.

Genes - 9 Feb 2022

Antoniutti Guido, Caimi-Martinez Fiama Giuliana, Álvarez-Rubio Jorge, Morlanes-Gracia Paula, Pons-Llinares Jaume, Rodríguez-Picón Blanca, Fortuny-Frau Elena, Torres-Juan Laura, Heine-Suner Damian, Ripoll-Vera Tomas

Abstract excerpt

Hypertrophic cardiomyopathy (HCM) is a genetic disease characterised by increased left ventricle (LV) wall thickness caused by mutations in sarcomeric genes. Finding a causal mutation can help to better assess the proband's risk, as it allows the presence of the mutation to be evaluated in relatives and the follow-up to be focused on carriers. We performed an observational study of patients with HCM due to the...

Topics

Cardiac Myosins
Cardiomyopathy, Hypertrophic
Death, Sudden
Genetic Association Studies
Humans
Myosin Heavy Chains
Phenotype
Sarcomeres

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35205365
DOI: 10.3390/genes13020320
PMCID: PMC8872101

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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