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Article

Cardiovascular magnetic resonance findings in patients with PRKAG2 gene mutations.

Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance - 24 Oct 2015

Pöyhönen Pauli, Hiippala Anita, Ollila Laura, Kaasalainen Touko, Hänninen Helena, Heliö Tiina, Tallila Jonna, Vasilescu Catalina, Kivistö Sari, Ojala Tiina, Holmström Miia

Abstract excerpt

BACKGROUND: Autosomal dominantly inherited PRKAG2 cardiac syndrome is due to a unique defect of the cardiac cell metabolism and has a distinctive histopathology with excess intracellular glycogen, and prognosis different from sarcomeric hypertrophic cardiomyopathy. We aimed to define the distinct characteristics of PRKAG2 using cardiovascular magnetic resonance (CMR). METHODS: CMR (1.5 T) and genetic testing were...

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Source

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Identifiers

PMID: 26496977
DOI: 10.1186/s12968-015-0192-3
PMCID: PMC4619453

Genes

PRKAG2

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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