Multimodality Imaging of Danon Disease in a Patient with a Novel LAMP2 Mutation

Multimodality Imaging of Danon Disease in a Patient with a Novel LAMP2 Mutation

[Display omitted] •Danon disease is a rare X-linked genetic disorder of the LAMP2 gene.•Danon cardiomyopathy has a high incidence of preexcitation and severe LVH.•LAMP2 mutation–associated cardiomyopathy can mimic sarcomeric HCM.•Multimodality imaging is key to a successful diagnosis of Danon diseas...

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Veröffentlicht in:CASE (Philadelphia, Pa.) Pa.), 2019-10, Vol.3 (5), p.235-238
Hauptverfasser: McLeod, Jennifer M., Fowler, Steven J., Cerrone, Marina, Aizer, Anthony, Chinitz, Larry A., Raad, Roy, Saric, Muhamed
Format: Artikel
Sprache:eng
Schlagworte:
Danon disease
Echocardiography
Hypertrophic cardiomyopathy
LAMP2 mutation
Manifestations of Rare Mutation
Positron emission tomography
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Beschreibung
Zusammenfassung:[Display omitted] •Danon disease is a rare X-linked genetic disorder of the LAMP2 gene.•Danon cardiomyopathy has a high incidence of preexcitation and severe LVH.•LAMP2 mutation–associated cardiomyopathy can mimic sarcomeric HCM.•Multimodality imaging is key to a successful diagnosis of Danon disease.
ISSN:2468-6441
2468-6441
DOI:10.1016/j.case.2019.04.007