Dilated Cardiomyopathy and Systolic Heart Failure in a Female Patient With Danon Disease.

Danon disease commonly manifests as isolated hypertrophic cardiomyopathy in female patients. The diagnosis is easily missed as it is rare and its pathophysiology is poorly understood. Without early diagnosis and treatment with heart transplantation, cardiomyopathy may progress to heart failure. We present the case of an adolescent female with Danon disease who presented with heart failure with reduced ejection fraction secondary to dilated cardiomyopathy. Her original presentation included a six-month history of shortness of breath, vomiting, and abdominal pain. Further workup revealed pelvic ascites and dilated cardiomyopathy with signs of heart failure. Genetic testing confirmed the diagnosis, revealing a previously undocumented amino acid substitution in the lysosomal-associated membrane protein-2 (LAMP2) gene. The patient received a heart transplant which led to an improvement in her symptoms. The patient's unique symptomatology illustrates the importance of early cardiac monitoring and transplantation if Danon disease is suspected. This uncommon presentation of dilated cardiomyopathy followed by psychiatric impairment, developmental disability, and unique LAMP2 genetic substitution provides a rare phenotype of Danon disease.