Highlights the necessity of a holistic approach and high index of suspicion for early detection of Danon disease in female patients with atypical phenotypes.
Atypical HCM without extracardiac signs in adolescent females may warrant LAMP2 testing; leaves open imaging-guided diagnostic pathways.
Danon disease (DD) is a rare X-linked disorder secondary to lysosomal-associated membrane protein 2 (LAMP2) deficiency that manifests as hypertrophic or dilated cardiomyopathy. We report an obscure presentation of DD in a 14-year-old female patient diagnosed using cardiac imaging including echocardiography and cardiac magnetic resonance imaging. A final diagnosis of DD was made after identification of LAMP2 genetic variant. The diagnosis of DD requires a high index of suspicion, particularly in female patients with atypical phenotypes. This case highlights the necessity of a holistic approach for early detection.
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Mulla et al. (2024) studied this question.
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