지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2024.1
- 수록면
- 15 - 19 (5page)
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초록· 키워드
오류제보하기
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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