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Published in: The International Journal of Cardiovascular Imaging 8/2020

01-08-2020 | Cardiomyopathy | Case-in-Point

Cardiac MR manifestations in two cases of PRKAG2 mutations in a Chinese family

Authors: Jun Wang, Xinli Li, Yi Xu

Published in: The International Journal of Cardiovascular Imaging | Issue 8/2020

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Abstract

PRKAG2 syndrome (PS) is a rare autosomal dominant syndrome that mainly presents with hypertrophic cardiomyopathy, ventricular preexcitation, and conduction abnormalities. Few reports have demonstrated the morphologic manifestation of patients with PRKAG2 gene defect. This case report demonstrates the cardiac magnetic resonance characteristics of the PS patients from a Chinese family.
Literature
2.
go back to reference Oesch C, Tülümen E, Akin I, Rudic B, Kuschyk J, El-Battrawy I, Becher T, Budjan J, Smakic A, Schoenberg SO et al (2017) Incremental benefit of late gadolinium cardiac magnetic resonance imaging for risk stratification in patients with hypertrophic cardiomyopathy. Sci Rep 24:6336. https://doi.org/10.1038/s41598-017-06533-0 CrossRef Oesch C, Tülümen E, Akin I, Rudic B, Kuschyk J, El-Battrawy I, Becher T, Budjan J, Smakic A, Schoenberg SO et al (2017) Incremental benefit of late gadolinium cardiac magnetic resonance imaging for risk stratification in patients with hypertrophic cardiomyopathy. Sci Rep 24:6336. https://​doi.​org/​10.​1038/​s41598-017-06533-0 CrossRef
Metadata
Title
Cardiac MR manifestations in two cases of PRKAG2 mutations in a Chinese family
Authors
Jun Wang
Xinli Li
Yi Xu
Publication date
01-08-2020
Publisher
Springer Netherlands
Keyword
Cardiomyopathy
Published in
The International Journal of Cardiovascular Imaging / Issue 8/2020
Print ISSN: 1569-5794
Electronic ISSN: 1875-8312
DOI
https://doi.org/10.1007/s10554-020-01848-y

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