Key result
Multi-modality imaging and genetics identify a LAMP2 mutation confirming Danon disease in an 18-year-old male.
Why the study?
Danon disease is a rare genetic cardio-skeletal myopathy requiring diagnosis through genetic testing combined with clinical and imaging tools.
Case Report (n=1)
Highlights the importance of combining clinical, imaging, and genetic testing tools for the accurate diagnosis of Danon disease.
Supports Danon disease consideration in young males with cardiomyopathy; leaves open broader validation of multi-modality diagnostics.
Danon disease is a rare genetic cardio-skeletal myopathy.We present a case of an 18-year-old patient experiencing intermittent chest pain, dyspnea, and palpitations.Initial investigations unveiled elevated NT-pro brain natriuretic peptide, creatinine kinase, and cardiac enzyme levels.Electrocardiogram findings displayed left ventricular hypertrophy with a strain pattern and left bundle branch block.Transthoracic echocardiography and cardiac magnetic resonance imaging confirmed severe concentric left ventricular hypertrophy, accompanied by late gadolinium enhancement in specific myocardial regions.Genetic testing identified prevalent frameshift mutations in the lysosomal-associated membrane protein-2 (LAMP2) gene, indicative of Danon disease.This condition manifests as a severe, early-onset cardiomyopathy with associated complications such as heart failure, arrhythmias, and conduction disturbances, particularly in males.Diagnosis relies on genetic evidence, emphasizing the significance of testing in conjunction with clinical and imaging tools.
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Zainuddin et al. (2024) conducted a case report in Danon disease (n=1). Multi-modality diagnostic approach was evaluated. A multi-modality diagnostic approach utilizing cardiac imaging and genetic testing identified a frameshift mutation in the LAMP2 gene, confirming Danon disease in an 18-year-old male.
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