BACKGROUND Danon disease(DD),in which mutations in the X-linked lysosome-associated membrane protein-2(LAMP-2)gene result in hypertrophic cardiomyopathy,is a rare disease,reported primarily in small samples or cases.H...BACKGROUND Danon disease(DD),in which mutations in the X-linked lysosome-associated membrane protein-2(LAMP-2)gene result in hypertrophic cardiomyopathy,is a rare disease,reported primarily in small samples or cases.However,with the development of cardiac magnetic resonance imaging and genetic technology in recent years,the number of reports has increased.CASE SUMMARY We report a case of DD in an adolescent male patient,confirmed by genetic testing.The patient was admitted to our hospital with complaints of a three-year history of chest tightness and shortness of breath.His preliminary clinical diagnosis is hypertrophic cardiomyopathy.Our report includes the patient’s clinical course from hospital admission to death,step-by-step diagnosis,treatment course,and noninvasive imaging features.We highlight how a noninvasive diagnostic approach,based solely on clinical and imaging“red flags”for DD,can be used to achieve a diagnosis of DD with a high degree of confidence.CONCLUSION DD is a very dangerous cardiomyopathy,and it is necessary to achieve early diagnosis and treatment.展开更多
文摘BACKGROUND Danon disease(DD),in which mutations in the X-linked lysosome-associated membrane protein-2(LAMP-2)gene result in hypertrophic cardiomyopathy,is a rare disease,reported primarily in small samples or cases.However,with the development of cardiac magnetic resonance imaging and genetic technology in recent years,the number of reports has increased.CASE SUMMARY We report a case of DD in an adolescent male patient,confirmed by genetic testing.The patient was admitted to our hospital with complaints of a three-year history of chest tightness and shortness of breath.His preliminary clinical diagnosis is hypertrophic cardiomyopathy.Our report includes the patient’s clinical course from hospital admission to death,step-by-step diagnosis,treatment course,and noninvasive imaging features.We highlight how a noninvasive diagnostic approach,based solely on clinical and imaging“red flags”for DD,can be used to achieve a diagnosis of DD with a high degree of confidence.CONCLUSION DD is a very dangerous cardiomyopathy,and it is necessary to achieve early diagnosis and treatment.
