A Multi-Modality Approach to Danon Disease
- Author:
Farah Nur Izzrin ZAINUDDIN
1
;
Raja Ezman Raja SHARIFF
Author Information
- Publication Type:CASE REPORT
- From: Cardiovascular Imaging Asia 2024;8(1):15-19
- CountryRepublic of Korea
- Language:English
- Abstract: 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.
