July 14, 2004HeartOpen Access

Danon’s disease as a cause of hypertrophic cardiomyopathy: a systematic survey

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Population

197 index cases with hypertrophic cardiomyopathy, of which 50 were included in molecular analysis after…

Design

Cross-sectional

Authors

PCPhilippe CharronUniversité Claude Bernard Lyon 1

Discussion

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Implication

Supports targeted LAMP2 testing in HCM with skeletal myopathy; leaves open true prevalence pending larger cohorts.

Structured PICO

Population

197 index cases with hypertrophic cardiomyopathy (HCM), of which 50 were included in molecular analysis after excluding 124 with sarcomeric gene mutations and 23 with autosomal dominant inheritance.

Intervention

Molecular analysis (direct sequencing) of the lysosome associated membrane protein 2 (LAMP2) gene.

Outcome

Prevalence of LAMP2 gene mutations (Danon's disease)

Danon's disease should be considered in the differential diagnosis of hypertrophic cardiomyopathy, particularly in patients presenting with concomitant skeletal myopathy.

Cite This Study

Philippe Charron (2004) studied this question.

synapsesocial.com/papers/6a90e63e263aa8e25c73cbb8 https://doi.org/10.1136/hrt.2003.029504

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Danon’s disease as a cause of hypertrophic cardiomyopathy: a systematic survey

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Danon’s disease as a cause of hypertrophic cardiomyopathy: a systematic survey

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider