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Article

Homozygous missense MYBPC3 Pro873His mutation associated with increased risk for heart failure development in hypertrophic cardiomyopathy.

ESC heart failure - 1 Aug 2018

Kissopoulou Antheia, Trinks Cecilia, Green Anna, Karlsson Jan-Erik, Jonasson Jon, Gunnarsson Cecilia

Abstract excerpt

Hypertrophic cardiomyopathy (HCM) is a primary autosomal-dominant disorder of the myocardium with variable expressivity and penetrance. Occasionally, homozygous sarcomere genetic variants emerge while genotyping HCM patients. In these cases, a more severe HCM phenotype is generally seen. Here, we report a case of HCM that was diagnosed clinically at 39 years of age. Initial symptoms were shortness of breath...

Topics

Adult
Alleles
Cardiomyopathy, Hypertrophic
Carrier Proteins
DNA
DNA Mutational Analysis
Disease Progression
Heart Failure
Homozygote
Humans
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation, Missense

Myocardium

Myosins

Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 29663722
DOI: 10.1002/ehf2.12288
PMCID: PMC6073032

Genes

MYBPC3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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