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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...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

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

Genes

MYH7

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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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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