A rare missense mutation in MYH6 associates with non-syndromic coarctation of the aorta.

doi:10.1093/eurheartj/ehy142

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Article

A rare missense mutation in MYH6 associates with non-syndromic coarctation of the aorta.

European heart journal - 7 Sept 2018

Bjornsson Thorsteinn, Thorolfsdottir Rosa B, Sveinbjornsson Gardar, Sulem Patrick, Norddahl Gudmundur L, Helgadottir Anna, Gretarsdottir Solveig, Magnusdottir Audur, Danielsen Ragnar, Sigurdsson Emil L, Adalsteinsdottir Berglind, Gunnarsson Sverrir I, Jonsdottir Ingileif, Arnar David O, Helgason Hrodmar, Gudbjartsson Tomas, Gudbjartsson Daniel F, Thorsteinsdottir Unnur, Holm Hilma, Stefansson Kari

Abstract excerpt

Aims: Coarctation of the aorta (CoA) accounts for 4-8% of congenital heart defects (CHDs) and confers substantial morbidity despite treatment. It is increasingly recognized as a highly heritable condition. The aim of the study was to search for sequence variants that affect the risk of CoA. Methods and results: We performed a genome-wide association study of CoA among Icelanders (120 cases and 355 166 controls)...

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Identifiers

PMID: 29590334
DOI: 10.1093/eurheartj/ehy142
PMCID: PMC6127890

Genes

MYH6

Variants

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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A rare missense mutation in MYH6 associates with non-syndromic coarctation of the aorta.PMID 29590334Read ↗

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