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Article

Genetic variations in hypoxia response genes influence hypertrophic cardiomyopathy phenotype.

Pediatric research - 1 Dec 2012

Alkon Jaime, Friedberg Mark K, Manlhiot Cedric, Manickaraj Ashok Kumar, Kinnear Caroline, McCrindle Brian W, Benson Leland N, Addonizio Linda J, Colan Steven D, Mital Seema

Abstract excerpt

BACKGROUND: Risk factors for diastolic dysfunction in hypertrophic cardiomyopathy (HCM) are poorly understood. We investigated the association of variants in hypoxia-response genes with phenotype severity in pediatric HCM. METHODS: A total of 80 unrelated patients <21 y and 14 related members from eight families with HCM were genotyped for six variants associated with vascular endothelial growth factor A (VEGFA)...

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Share to Cardiomyopathy, Hypertrophic
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to VEGFA gene

Share to Genetic Variation

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Share to Polymorphism, Single Nucleotide

Source

Identifiers

PMID: 23007030
DOI: 10.1038/pr.2012.126

Genes

VEGFA
TGFB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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