Cardiac MRI in Danon's Disease—A Phenocopy of Hypertrophic Cardiomyopathy in Young Adults

We report two cases of hypertrophic cardiomyopathy in young adults, both presenting with characteristic familial and clinical features, along with imaging abnormalities. Further evaluation revealed the underlying diagnosis to be Danon disease-an X-linked dominant disorder caused by mutations in the LAMP-2 gene. A comprehensive Medline search revealed a lack of published Indian literature specifically addressing Danon disease. Here, we present the clinical profiles and cardiac MRI findings of these two genetically confirmed cases.

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Publication Details

Journal
Echocardiography
Published
2025-11-01
DOI
https://doi.org/10.1111/echo.70337
Primary Topic
Cardiomyopathy and Myosin Studies
Type
article
Field-Weighted Citation Impact
0.00
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article

Cardiac MRI in Danon's Disease—A Phenocopy of Hypertrophic Cardiomyopathy in Young Adults

Vineeta Ojha, Priya Jagia, Abhishek Dhiman, Shyam Murti Bohare et al.
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Cardiomyopathy and Myosin Studies
article

Cardiac MRI in Danon's Disease—A Phenocopy of Hypertrophic Cardiomyopathy in Young Adults

Vineeta Ojha, Priya Jagia, Abhishek Dhiman, Shyam Murti Bohare, M. Goyal
article en

Abstract

We report two cases of hypertrophic cardiomyopathy in young adults, both presenting with characteristic familial and clinical features, along with imaging abnormalities. Further evaluation revealed the underlying diagnosis to be Danon disease-an X-linked dominant disorder caused by mutations in the LAMP-2 gene. A comprehensive Medline search revealed a lack of published Indian literature specifically addressing Danon disease. Here, we present the clinical profiles and cardiac MRI findings of these two genetically confirmed cases.

EchocardiographyVol. 42(11)
All India Institute of Medical Sciences (IN)
Openalex Percentile: Top 48%
Cardiomyopathy and Myosin Studies
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