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Article

Hypertrophic cardiomyopathy due to beta-myosin heavy chain mutation with extreme phenotypic variability within a family.

International journal of cardiology - 29 May 2009

Keller D I, Schwitter J, Valsangiacomo E R, Landolt P, Attenhofer Jost C H

Abstract excerpt

Hypertrophic cardiomyopathy (HCM) affects 1 in 500 persons and shows high variability in severity of disease, in genetic heterogeneity and phenotypic patterns. Many affected individuals remain undetected throughout their lives. In this case report a family with proven beta-myosin heavy chain mutation (MYH7) with 3 affected family members with huge phenotypic variability is described. The index patient (male, age...

Topics

Adolescent
Adult
Cardiomyopathy, Hypertrophic
Electrocardiography
Female
Genetic Variation
Humans
Male
Mutation
Myosin Heavy Chains
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenotype

Ventricular Myosins

Young Adult

Source

Identifiers

PMID: 18374998
DOI: 10.1016/j.ijcard.2007.12.097

Genes

MYH7

Provenance

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

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