Comprehensive guideline-directed medical therapy and oral anticoagulation following diagnosis of Danon disease in a 27-year-old woman reversed stroke-like symptoms and managed cardiomyopathy with persistent NYHA class III symptoms at 18 months.
Case Report (n=1)
No
Danon disease in female carriers can present atypically with cardioembolic stroke secondary to severe dilated cardiomyopathy, highlighting the importance of multimodality imaging and genetic testing.
Background Danon disease is a rare X-linked dominant lysosomal storage disorder caused by lysosome-associated membrane protein 2 (LAMP2) deficiency. Female carriers demonstrate highly variable penetrance, and neurological manifestations are under-recognized, which delays diagnosis and targeted management. Case presentation A 27-year-old woman presented with sudden-onset left-sided weakness that resolved within three weeks. Initial magnetic resonance imaging demonstrated a right basal ganglia infarction with distal right middle cerebral artery narrowing, and she received dual antiplatelet therapy and statins. When she was referred for etiologic evaluation, physical and neurological examinations were unremarkable, yet N-terminal pro-B-type natriuretic peptide and cardiac troponin I levels were elevated. Transthoracic echocardiography revealed left ventricular dilation with global hypokinesia (ejection fraction 30%). Right heart contrast echocardiography excluded patent foramen ovale, whereas 24 h Holter monitoring captured frequent atrial and ventricular ectopy with short ventricular tachycardia runs. Cardiac magnetic resonance showed markedly reduced systolic function (left ventricular ejection fraction 21%) and mid-wall late gadolinium enhancement, while myocardial perfusion imaging confirmed global hypoperfusion. Whole-exome sequencing identified a heterozygous LAMP2 frameshift variant (c. 1079₁083delGAAAG; p. Gly360Valfs*11), which was validated by Sanger sequencing. Cascade testing revealed a hemizygous carrier son and wild-type parents. She was treated with contemporary heart failure therapy, oral dabigatran for presumed cardioembolic stroke, and listed for heart transplantation. Conclusion This case underscores that Danon disease in women may initially mimic cryptogenic stroke. Multimodality cardiac imaging combined with genetic analysis is crucial for recognizing atypical presentations and guiding anticipatory heart failure management.
Wang et al. (Tue,) conducted a case report in Danon disease with transient stroke-like episode and cardiomyopathy (n=1). Guideline-directed medical therapy for heart failure including sacubitril/valsartan, metoprolol succinate, spironolactone, dapagliflozin, torsemide, vericiguat plus oral dabigatran 110 mg twice daily vs. dual antiplatelet therapy (aspirin 100 mg daily plus clopidogrel 75 mg daily) and atorvastatin 20 mg nightly was evaluated on Resolution of neurological deficits and management of heart failure symptoms. Comprehensive guideline-directed medical therapy and oral anticoagulation following diagnosis of Danon disease in a 27-year-old woman reversed stroke-like symptoms and managed cardiomyopathy with persistent NYHA class III symptoms at 18 months.