Possible Creutzfeldt-Jakob disease in a patient with a transplanted heart valve: case report, correlations and literature review

Possivel doença de Creutzfeldt-Jakob em paciente com válvula cardíaca biológica: relato de caso, correlações e revisão da literatura

Resumen

INTRODUCTION: Creutzfeldt-Jakob Disease (CJD) is a rare neurodegenerative disorder caused by the accumulation of abnormal prion proteins. It is characterized by rapidly progressive dementia, with an annual incidence of approximately 1 case per 1 million people. Most cases are sporadic, with an unclear pathophysiology. Around 5–15% are genetic, and less than 1% occur iatrogenically, including after procedures such as valve graft implantation. Diagnosis is complex and relies on clinical presentation supported by neuroimaging and electroencephalogram (EEG).

CASE REPORT: A 74-year-old woman with heart failure and a history of biological mitral valve replacement in January 2024 presented with a 3-month history of cognitive decline, behavioral changes, visual hallucinations, dysarthria, and ataxia, with worsening symptoms over the prior week. Brain MRI showed cortical diffusion restriction, and EEG revealed triphasic periodic complexes, both highly suggestive of CJD. Other potential diagnoses were excluded. Due to age, comorbidities, and rapid clinical decline, a brain biopsy was not performed. The patient was discharged with comprehensive palliative care and nutritional support via gastrostomy.

DISCUSSION: CJD presents with rapidly progressive dementia and can occurs iatrogenically after procedures. MRI and EEG findings are critical for diagnosis. While cerebrospinal fluid biomarkers such as RT-QuIC may aid in confirmation, definitive diagnosis requires histopathology. No curative treatment is currently available.

CONCLUSION: CJD should be considered in cases of rapidly progressive dementia. It can be occurred in iatrogenic way in patients who undergo procedures involving biological grafts. Early diagnostic evaluation and timely palliative care involvement are essential due to the disease’s invariably fatal course