Cardiomyopathy Associated with Systemic Disease: The Case of a 31-Year-Old Female with Left Ventricular Thickening

Document Type

Conference Proceeding

Publication Date


Publication Title

J Heart Lung Transplant


Introduction: Cardiologists should be aware of rare diseases that can impact cardiac function. Our case involves a woman with cardiomyopathy and left ventricular (LV) thickening which was mistakenly diagnosed.

Case Report: Our patient presented at age 27 in 2018 with palpitations and dyspnea, eventually being diagnosed with multiple pathologies including non-ischemic cardiomyopathy. In 2022, she was referred to our Advanced Heart Failure Clinic with pertinent findings outlined in figure 1. Genetic testing revealed a LAMP2 mutation consistent with Danon disease. She is presently undergoing evaluation for cardiac transplant. Danon disease is a systemic disorder of glycogen storage due to a lysosome-associated membrane protein 2 (LAMP2) deficiency. It can manifest with LV thickening due to myocyte vacuolization (not true cell hypertrophy), systolic dysfunction and Wolf-Parkinson-White (WPW), with or without associated skeletal myopathy (elevated creatine kinase, aspartate aminotransferase), retinal pigmentation, neuropsychiatric, gastrointestinal or respiratory abnormalities. An X-linked dominant disorder, the cardiomyopathy in males tends to be more severe and earlier in onset than women, with intellectual disability being more frequent. Detection of a mutation in the LAMP2 gene confirms the diagnosis. While CRISPR technologies are under study for gene editing, approved disease-specific treatments for reversing or slowing Danon are lacking. Cardiac transplantation is the common management choice for those eligible, but pulmonary hypertension and neurocognitive deficiencies may limit candidacy. Danon disease is an uncommon genetic disorder with varying phenotypic presentation. Cardiologists should consider it in young patients with a WPW EKG pattern and LV thickening with reduced systolic function, with or without neurocognitive or muscular dysfunction. Referral to an advanced heart failure center for genetic counseling and management is recommended.





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